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- Gene Symbol
- AMY1A
- Assay Reference Genome
Location
Chr.1:103655744 on build GRCh38- Cytoband
Genomic Map
Back To TopAssay Details
Target Gene Details
Entrez Gene ID: | 276 |
Gene Name: | amylase alpha 1A |
Gene Aliases: |
AMY1 |
Location: |
Chr.1:103655519-103664554 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 1 - Exon 2 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| AMY1A | NM_001008221.1 | NP_001008222.1 | ||
| NM_004038.4 | NP_004029.2 | |||
| AK292341.1 | BAF85030.1 | |||
| AK313275.1 | ||||
| BC063129.1 | AAH63129.1 | |||
| BC070302.1 | AAH70302.1 | |||
| BC092444.1 | AAH92444.1 | |||
| BX487266.1 | ||||
| CB956272.1 | 1 | 68 |
Target Gene Details
Entrez Gene ID: | 277 |
Gene Name: | amylase alpha 1B |
Gene Aliases: |
AMY1 |
Location: |
Chr.1:103687415-103696453 on Build GRCh38 |
Assay Gene Location: |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| AMY1B |
Target Gene Details
Entrez Gene ID: | 278 |
Gene Name: | amylase alpha 1C |
Gene Aliases: |
AMY1 |
Location: |
Chr.1:103749654-103758692 on Build GRCh38 |
Assay Gene Location: |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| AMY1C |
Target Copy Number Variation Details
DGV Version: |
Release date: 2025-12-01, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv483008 | Chr.1:103611912 - 103769127 on Build GRCh38 | Gain+Loss |
 AMY1B
AMY1A
AMY1C
AMY2A
|
| esv1003868 | Chr.1:103594092 - 103760776 on Build GRCh38 | Gain |
AMY1B
AMY1A
AMY1C
AMY2A
|
| dgv2e203 | Chr.1:103556030 - 103761017 on Build GRCh38 | Gain+Loss |
AMY1B
AMY1A
ACTG1P4
AMY1C
AMY2A
AMY2B
|
| nsv1161046 | Chr.1:103725600 - 103801365 on Build GRCh38 | Deletion |
AMY1C
|
| nsv546976 | Chr.1:103567100 - 103877208 on Build GRCh38 | Gain |
AMY1B
AMY1A
ACTG1P4
AMY1C
AMY2A
AMY2B
|
| dgv220n100 | Chr.1:103589725 - 103766545 on Build GRCh38 | Gain+Loss |
AMY1B
AMY1A
AMY1C
AMY2A
|
| dgv225n100 | Chr.1:103613168 - 103771419 on Build GRCh38 | Gain |
AMY1B
AMY1A
AMY1C
AMY2A
|
| dgv431n54 | Chr.1:103613322 - 103766047 on Build GRCh38 | Gain |
AMY1B
AMY1A
AMY1C
AMY2A
|
| esv2715585 | Chr.1:103594409 - 103761140 on Build GRCh38 | Deletion |
AMY1B
AMY1A
AMY1C
AMY2A
|
| dgv392n54 | Chr.1:103555093 - 103763694 on Build GRCh38 | Gain |
AMY1B
RNPC3
AMY1A
ACTG1P4
AMY1C
AMY2A
AMY2B
|
| dgv351n152 | Chr.1:103637357 - 103761523 on Build GRCh38 | Insertion |
AMY1B
AMY1A
AMY1C
|
| nsv471346 | Chr.1:103749818 - 103758688 on Build GRCh38 | Gain |
AMY1C
|
| esv2758954 | Chr.1:103447737 - 103909380 on Build GRCh38 | Gain+Loss |
AMY1B
RNPC3
AMY1A
ACTG1P4
AMY1C
RNPC3-DT
AMY2A
AMY2B
|
| nsv4518378 | Chr.1:103648378 - 103760578 on Build GRCh38 | Duplication |
AMY1B
AMY1A
AMY1C
|
| nsv830915 | Chr.1:103482208 - 103750660 on Build GRCh38 | Gain+Loss |
AMY1B
RNPC3
AMY1A
ACTG1P4
AMY1C
RNPC3-DT
AMY2A
AMY2B
|
| nsv469513 | Chr.1:103635372 - 103750710 on Build GRCh38 | Gain |
AMY1B
AMY1A
AMY1C
|
| nsv1139485 | Chr.1:103748878 - 103754678 on Build GRCh38 | Duplication |
AMY1C
|
| esv3363699 | Chr.1:103747907 - 103751405 on Build GRCh38 | Duplication |
AMY1C
|
| dgv445n54 | Chr.1:103687506 - 103755245 on Build GRCh38 | Loss |
AMY1B
AMY1C
|
| nsv517215 | Chr.1:103563013 - 103800276 on Build GRCh38 | Gain+Loss |
AMY1B
AMY1A
ACTG1P4
AMY1C
AMY2A
AMY2B
|
| dgv68e212 | Chr.1:103560182 - 103764609 on Build GRCh38 | Gain |
AMY1B
AMY1A
ACTG1P4
AMY1C
AMY2A
AMY2B
|
| nsv1012949 | Chr.1:103556018 - 103766545 on Build GRCh38 | Gain |
AMY1B
AMY1A
ACTG1P4
AMY1C
AMY2A
AMY2B
|
| nsv1118436 | Chr.1:103718178 - 103760878 on Build GRCh38 | Duplication |
AMY1C
|
| nsv3214857 | Chr.1:103731499 - 103761523 on Build GRCh38 | Insertion |
AMY1C
|
| dgv412n54 | Chr.1:103610478 - 103755245 on Build GRCh38 | Gain+Loss |
AMY1B
AMY1A
AMY1C
AMY2A
|
| dgv401n54 | Chr.1:103583972 - 103760817 on Build GRCh38 | Loss |
AMY1B
AMY1A
AMY1C
AMY2A
|
| nsv6138078 | Chr.1:103594000 - 103760200 on Build GRCh38 | Duplication |
AMY1B
AMY1A
AMY1C
AMY2A
|
| nsv471677 | Chr.1:103635373 - 103750710 on Build GRCh38 | Gain+Loss |
AMY1B
AMY1A
AMY1C
|
| dgv435n54 | Chr.1:103627698 - 103755245 on Build GRCh38 | Loss |
AMY1B
AMY1A
AMY1C
|
| nsv526367 | Chr.1:103477009 - 103787255 on Build GRCh38 | Gain |
AMY1B
RNPC3
AMY1A
ACTG1P4
AMY1C
RNPC3-DT
AMY2A
AMY2B
|
| dgv438n54 | Chr.1:103660666 - 103756622 on Build GRCh38 | Loss |
AMY1B
AMY1A
AMY1C
|
| nsv1156100 | Chr.1:103616762 - 103760781 on Build GRCh38 | Duplication |
AMY1B
AMY1A
AMY1C
AMY2A
|
| nsv547016 | Chr.1:103597390 - 103763694 on Build GRCh38 | Gain+Loss |
AMY1B
AMY1A
AMY1C
AMY2A
|
| esv3325833 | Chr.1:103747807 - 103754105 on Build GRCh38 | Duplication |
AMY1C
|
| nsv950527 | Chr.1:103684479 - 103758178 on Build GRCh38 | Duplication |
AMY1B
AMY1C
|
| nsv471437 | Chr.1:103670045 - 103764397 on Build GRCh38 | Gain |
AMY1B
AMY1C
|
| nsv547200 | Chr.1:103681656 - 103766047 on Build GRCh38 | Gain |
AMY1B
AMY1C
|
| nsv3319678 | Chr.1:103619201 - 103760300 on Build GRCh38 | Duplication |
AMY1B
AMY1A
AMY1C
AMY2A
|
| nsv547204 | Chr.1:103719086 - 103808155 on Build GRCh38 | Loss |
AMY1C
|
| nsv6138520 | Chr.1:103593835 - 103957835 on Build GRCh38 | Duplication |
AMY1B
AMY1A
AMY1C
AMY2A
|
| nsv1007406 | Chr.1:103714246 - 103783855 on Build GRCh38 | Gain |
AMY1C
|
| dgv433n54 | Chr.1:103622603 - 103750309 on Build GRCh38 | Gain |
AMY1B
AMY1A
AMY1C
AMY2A
|
| esv23292 | Chr.1:103561064 - 103774396 on Build GRCh38 | Gain+Loss |
AMY1B
AMY1A
ACTG1P4
AMY1C
AMY2A
AMY2B
|
| nsv1008015 | Chr.1:103678897 - 103764624 on Build GRCh38 | Gain+Loss |
AMY1B
AMY1C
|
| nsv1150659 | Chr.1:103697577 - 103760878 on Build GRCh38 | Duplication |
AMY1C
|
| nsv547205 | Chr.1:103721864 - 103756622 on Build GRCh38 | Loss |
AMY1C
|
| dgv13n111 | Chr.1:103621165 - 103801365 on Build GRCh38 | Duplication |
AMY1B
AMY1A
AMY1C
AMY2A
|
| nsv3206669 | Chr.1:103594616 - 103767378 on Build GRCh38 | Duplication |
AMY1B
AMY1A
AMY1C
AMY2A
|
| nsv547185 | Chr.1:103669454 - 103755245 on Build GRCh38 | Gain+Loss |
AMY1B
AMY1C
|
| dgv3n14 | Chr.1:103589135 - 103760817 on Build GRCh38 | Loss |
AMY1B
AMY1A
AMY1C
AMY2A
|
| nsv5567747 | Chr.1:103667851 - 103762001 on Build GRCh38 | Deletion |
AMY1B
AMY1C
|
| nsv946112 | Chr.1:103740039 - 103766743 on Build GRCh38 | Duplication |
AMY1C
|
| nsv10428 | Chr.1:103560606 - 103764036 on Build GRCh38 | Gain+Loss |
AMY1B
AMY1A
ACTG1P4
AMY1C
AMY2A
AMY2B
|
| dgv226n100 | Chr.1:103614527 - 103766510 on Build GRCh38 | Loss |
AMY1B
AMY1A
AMY1C
AMY2A
|
Back To TopMore Information
Important Information
Hs07226362_cn detects the highly copy number variant AMY1 gene encoding salivary alpha-amylase. AMY1 can be present in 2 to 15 or more copies per human genome. While qPCR has been used to estimate AMY1 gene CNV (e.g. Falchi et. al. Nat Genet. 2014 46:492-7), digital PCR is the more accurate method for detection of high copy numbers (e.g. Ooi et. al. 2017 PLoS ONE 12: e0170767).Additional Information:
This assay has 3 genomic targets in NCBI build GRCh38
Set Membership: |
Intragenic
Non-exonic
DGV Variation
Validated
|
Gene Ontology Categories:
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