Linked Data
ClinVar Variation Id:
377348
dbSNP Id:
rs887540
ExAC:
3:52020630 A / G
gnomAD v2:
3-52020630-A-G
gnomAD v3:
3-51986614-A-G
gnomAD v4:
3-51986614-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.51986614A>G , CM000665.2:g.51986614A>G | GRCh38 |
| NC_000003.11:g.52020630A>G , CM000665.1:g.52020630A>G | GRCh37 |
| NC_000003.10:g.51995670A>G | NCBI36 |
| NG_012036.1:g.8068A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404366.7:c.536A>G (ACY1) | ENSP00000384296.2:p.Asn179Ser | |
| ENST00000464587.2:n.222A>G (ACY1) | ||
| ENST00000486081.6:c.*382A>G (ABHD14A-ACY1) | ENSP00000420395.1:n.*382A>G | |
| ENST00000635785.1:c.766A>G (ABHD14A-ACY1) | ||
| ENST00000635797.1:c.431A>G (ACY1) | ENSP00000490007.1:p.Asn144Ser | |
| ENST00000635937.1:c.*382A>G (ABHD14A-ACY1) | ENSP00000489887.1:n.*382A>G | |
| ENST00000635941.1:c.399A>G (ACY1) | ENSP00000490309.1:n.399A>G | |
| ENST00000635946.1:c.*482A>G (ABHD14A-ACY1) | ENSP00000490284.1:n.*482A>G | |
| ENST00000635951.1:c.*482A>G (ABHD14A-ACY1) | ENSP00000490649.1:n.*482A>G | |
| ENST00000635952.1:c.623A>G (ABHD14A-ACY1) | ENSP00000490434.1:p.Asn208Ser | |
| ENST00000636047.1:n.513A>G (ACY1) | ||
| ENST00000636085.1:c.*382A>G (ABHD14A-ACY1) | ENSP00000489981.1:n.*382A>G | |
| ENST00000636089.1:c.*547A>G (ABHD14A-ACY1) | ENSP00000490657.1:n.*547A>G | |
| ENST00000636358.2:c.536A>G (ACY1) MANE Select | ENSP00000490149.1:p.Asn179Ser | |
| ENST00000636490.1:c.*547A>G (ABHD14A-ACY1) | ENSP00000490575.1:n.*547A>G | |
| ENST00000636556.1:c.*481A>G (ACY1) | ENSP00000490500.1:n.*481A>G | |
| ENST00000636646.1:c.*447A>G (ABHD14A-ACY1) | ENSP00000490688.1:n.*447A>G | |
| ENST00000636660.1:c.414A>G (ABHD14A-ACY1) | ||
| ENST00000636718.1:c.*737A>G (ABHD14A-ACY1) | ENSP00000490429.1:n.*737A>G | |
| ENST00000636826.1:c.*382A>G (ABHD14A-ACY1) | ENSP00000489721.1:n.*382A>G | |
| ENST00000636880.1:c.*246A>G (ACY1) | ENSP00000489947.1:n.*246A>G | |
| ENST00000636942.1:c.*382A>G (ABHD14A-ACY1) | ENSP00000490848.1:n.*382A>G | |
| ENST00000637025.1:c.*246A>G (ABHD14A-ACY1) | ENSP00000490236.1:n.*246A>G | |
| ENST00000637130.1:c.*346A>G (ABHD14A-ACY1) | ENSP00000490887.1:n.*346A>G | |
| ENST00000637209.1:c.*246A>G (ACY1) | ENSP00000490708.1:n.*246A>G | |
| ENST00000637222.1:c.536A>G (ABHD14A-ACY1) | ENSP00000490353.1:p.Asn179Ser | |
| ENST00000637251.1:n.1283A>G (ACY1) | ||
| ENST00000637349.1:c.*99A>G (ACY1) | ENSP00000489688.1:n.*99A>G | |
| ENST00000637460.1:n.527A>G (ACY1) | ||
| ENST00000637461.1:c.383A>G (ABHD14A-ACY1) | ||
| ENST00000637512.1:c.701A>G (ABHD14A-ACY1) | ||
| ENST00000637563.1:c.*873A>G (ABHD14A-ACY1) | ENSP00000490319.1:n.*873A>G | |
| ENST00000637696.1:c.*482A>G (ABHD14A-ACY1) | ENSP00000490554.1:n.*482A>G | |
| ENST00000637730.1:c.743A>G (ABHD14A-ACY1) | ||
| ENST00000637778.1:c.*873A>G (ABHD14A-ACY1) | ENSP00000490052.1:n.*873A>G | |
| ENST00000637978.1:c.1105A>G (ABHD14A-ACY1) | ||
| ENST00000638096.1:n.16A>G (ACY1) | ||
| ENST00000638136.1:n.867A>G (ACY1) | ||
| ENST00000404366.6:c.536A>G (ACY1) | ENSP00000384296.2:p.Asn179Ser | |
| ENST00000463721.5:c.*447A>G (ABHD14A-ACY1) | ENSP00000417688.1:n.*447A>G | |
| ENST00000463937.1:c.839A>G (ABHD14A-ACY1) | ENSP00000420487.1:p.Asn280Ser | |
| ENST00000464587.1:n.222A>G (ACY1) | ||
| ENST00000465121.5:n.609A>G (ACY1) | ||
| ENST00000469863.1:c.563A>G (ACY1) | ENSP00000419830.1:p.Asn188Ser | |
| ENST00000476351.5:c.431A>G (ACY1) | ENSP00000417056.1:p.Asn144Ser | |
| ENST00000476854.5:c.536A>G (ACY1) | ENSP00000419262.1:p.Asn179Ser | |
| ENST00000486081.5:c.*382A>G (ABHD14A-ACY1) | ENSP00000420395.1:n.*382A>G | |
| ENST00000491318.5:c.536A>G (ACY1) | ENSP00000418683.1:p.Asn179Ser | |
| ENST00000494103.5:c.320A>G (ACY1) | ENSP00000417618.1:p.Asn107Ser | |
| ENST00000497128.1:n.639A>G (ABHD14A-ACY1) | ||
| NM_000666.2:c.536A>G (ACY1) | NP_000657.1:p.Asn179Ser | |
| NM_001198895.1:c.536A>G (ACY1) | NP_001185824.1:p.Asn179Ser | |
| NM_001198896.1:c.320A>G (ACY1) | NP_001185825.1:p.Asn107Ser | |
| NM_001198897.1:c.536A>G (ACY1) | NP_001185826.1:p.Asn179Ser | |
| NM_001198898.1:c.431A>G (ACY1) | NP_001185827.1:p.Asn144Ser | |
| NM_001316331.1:c.806A>G (ABHD14A-ACY1) | NP_001303260.1:p.Asn269Ser | |
| NM_000666.3:c.536A>G (ACY1) MANE Select | NP_000657.1:p.Asn179Ser | |
| NM_001198895.2:c.536A>G (ACY1) | NP_001185824.1:p.Asn179Ser | |
| NM_001198896.2:c.320A>G (ACY1) | NP_001185825.1:p.Asn107Ser | |
| NM_001198897.2:c.536A>G (ACY1) | NP_001185826.1:p.Asn179Ser | |
| NM_001198898.2:c.431A>G (ACY1) | NP_001185827.1:p.Asn144Ser | |
| NM_001316331.2:c.806A>G (ABHD14A-ACY1) | NP_001303260.1:p.Asn269Ser |