Linked Data
ClinVar Variation Id:
18111
dbSNP Id:
rs121912699
ExAC:
3:52021204 A / C
gnomAD v2:
3-52021204-A-C
gnomAD v3:
3-51987188-A-C
gnomAD v4:
3-51987188-A-C
PubMed:
PMID:16465618
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.51987188A>C , CM000665.2:g.51987188A>C | GRCh38 |
| NC_000003.11:g.52021204A>C , CM000665.1:g.52021204A>C | GRCh37 |
| NC_000003.10:g.51996244A>C | NCBI36 |
| NG_012036.1:g.8642A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000404366.7:c.699A>C (ACY1) | ENSP00000384296.2:p.Glu233Asp | |
| ENST00000464587.2:n.385A>C (ACY1) | ||
| ENST00000486081.6:c.*545A>C (ABHD14A-ACY1) | ENSP00000420395.1:n.*545A>C | |
| ENST00000635785.1:c.887+127A>C (ABHD14A-ACY1) | ||
| ENST00000635797.1:c.594A>C (ACY1) | ENSP00000490007.1:p.Glu198Asp | |
| ENST00000635937.1:c.*956A>C (ABHD14A-ACY1) | ENSP00000489887.1:n.*956A>C | |
| ENST00000635941.1:c.973A>C (ACY1) | ENSP00000490309.1:n.973A>C | |
| ENST00000635946.1:c.*1056A>C (ABHD14A-ACY1) | ENSP00000490284.1:n.*1056A>C | |
| ENST00000635951.1:c.*971A>C (ABHD14A-ACY1) | ENSP00000490649.1:n.*971A>C | |
| ENST00000635952.1:c.786A>C (ABHD14A-ACY1) | ENSP00000490434.1:p.Glu262Asp | |
| ENST00000636089.1:c.*1036A>C (ABHD14A-ACY1) | ENSP00000490657.1:n.*1036A>C | |
| ENST00000636358.2:c.699A>C (ACY1) MANE Select | ENSP00000490149.1:p.Glu233Asp | |
| ENST00000636490.1:c.*1036A>C (ABHD14A-ACY1) | ENSP00000490575.1:n.*1036A>C | |
| ENST00000636556.1:c.*644A>C (ACY1) | ENSP00000490500.1:n.*644A>C | |
| ENST00000636646.1:c.*936A>C (ABHD14A-ACY1) | ENSP00000490688.1:n.*936A>C | |
| ENST00000636660.1:c.662A>C (ABHD14A-ACY1) | ||
| ENST00000636718.1:c.*1311A>C (ABHD14A-ACY1) | ENSP00000490429.1:n.*1311A>C | |
| ENST00000636826.1:c.*630A>C (ABHD14A-ACY1) | ENSP00000489721.1:n.*630A>C | |
| ENST00000636880.1:c.*409A>C (ACY1) | ENSP00000489947.1:n.*409A>C | |
| ENST00000636942.1:c.*580A>C (ABHD14A-ACY1) | ENSP00000490848.1:n.*580A>C | |
| ENST00000637025.1:c.*820A>C (ABHD14A-ACY1) | ENSP00000490236.1:n.*820A>C | |
| ENST00000637034.1:n.132A>C (ACY1) | ||
| ENST00000637130.1:c.*920A>C (ABHD14A-ACY1) | ENSP00000490887.1:n.*920A>C | |
| ENST00000637199.1:n.172A>C (ACY1) | ||
| ENST00000637222.1:c.699A>C (ABHD14A-ACY1) | ENSP00000490353.1:p.Glu233Asp | |
| ENST00000637349.1:c.*220+127A>C (ACY1) | ENSP00000489688.1:n.*220+127A>C | |
| ENST00000637460.1:n.733A>C (ACY1) | ||
| ENST00000637512.1:c.949A>C (ABHD14A-ACY1) | ||
| ENST00000637563.1:c.*1447A>C (ABHD14A-ACY1) | ENSP00000490319.1:n.*1447A>C | |
| ENST00000637696.1:c.*1056A>C (ABHD14A-ACY1) | ENSP00000490554.1:n.*1056A>C | |
| ENST00000637730.1:c.1232A>C (ABHD14A-ACY1) | ||
| ENST00000637778.1:c.*1447A>C (ABHD14A-ACY1) | ENSP00000490052.1:n.*1447A>C | |
| ENST00000637978.1:c.1268A>C (ABHD14A-ACY1) | ||
| ENST00000638096.1:n.590A>C (ACY1) | ||
| ENST00000638136.1:n.1115A>C (ACY1) | ||
| ENST00000404366.6:c.699A>C (ACY1) | ENSP00000384296.2:p.Glu233Asp | |
| ENST00000463721.5:c.*610A>C (ABHD14A-ACY1) | ENSP00000417688.1:n.*610A>C | |
| ENST00000463937.1:c.1002A>C (ABHD14A-ACY1) | ENSP00000420487.1:p.Glu334Asp | |
| ENST00000464587.1:n.385A>C (ACY1) | ||
| ENST00000465121.5:n.772A>C (ACY1) | ||
| ENST00000476351.5:c.594A>C (ACY1) | ENSP00000417056.1:p.Glu198Asp | |
| ENST00000476854.5:c.657+127A>C (ACY1) | ENSP00000419262.1:n.657+127A>C | |
| ENST00000491318.5:c.584-121A>C (ACY1) | ENSP00000418683.1:n.584-121A>C | |
| ENST00000494103.5:c.483A>C (ACY1) | ENSP00000417618.1:p.Glu161Asp | |
| NM_000666.2:c.699A>C (ACY1) | NP_000657.1:p.Glu233Asp | |
| NM_001198895.1:c.699A>C (ACY1) | NP_001185824.1:p.Glu233Asp | |
| NM_001198896.1:c.483A>C (ACY1) | NP_001185825.1:p.Glu161Asp | |
| NM_001198897.1:c.657+127A>C (ACY1) | NP_001185826.1:n.657+127A>C | |
| NM_001198898.1:c.594A>C (ACY1) | NP_001185827.1:p.Glu198Asp | |
| NM_001316331.1:c.969A>C (ABHD14A-ACY1) | NP_001303260.1:p.Glu323Asp | |
| NM_000666.3:c.699A>C (ACY1) MANE Select | NP_000657.1:p.Glu233Asp | |
| NM_001198895.2:c.699A>C (ACY1) | NP_001185824.1:p.Glu233Asp | |
| NM_001198896.2:c.483A>C (ACY1) | NP_001185825.1:p.Glu161Asp | |
| NM_001198897.2:c.657+127A>C (ACY1) | NP_001185826.1:n.657+127A>C | |
| NM_001198898.2:c.594A>C (ACY1) | NP_001185827.1:p.Glu198Asp | |
| NM_001316331.2:c.969A>C (ABHD14A-ACY1) | NP_001303260.1:p.Glu323Asp |