Linked Data
dbSNP Id:
rs758418338
ExAC:
3:52021004 G / A
gnomAD v2:
3-52021004-G-A
gnomAD v3:
3-51986988-G-A
gnomAD v4:
3-51986988-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.51986988G>A , CM000665.2:g.51986988G>A | GRCh38 |
| NC_000003.11:g.52021004G>A , CM000665.1:g.52021004G>A | GRCh37 |
| NC_000003.10:g.51996044G>A | NCBI36 |
| NG_012036.1:g.8442G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404366.7:c.584G>A (ACY1) | ENSP00000384296.2:p.Trp195Ter | |
| ENST00000464587.2:n.270G>A (ACY1) | ||
| ENST00000486081.6:c.*430G>A (ABHD14A-ACY1) | ENSP00000420395.1:n.*430G>A | |
| ENST00000635785.1:c.814G>A (ABHD14A-ACY1) | ||
| ENST00000635797.1:c.479G>A (ACY1) | ENSP00000490007.1:p.Trp160Ter | |
| ENST00000635937.1:c.*756G>A (ABHD14A-ACY1) | ENSP00000489887.1:n.*756G>A | |
| ENST00000635941.1:c.773G>A (ACY1) | ENSP00000490309.1:n.773G>A | |
| ENST00000635946.1:c.*856G>A (ABHD14A-ACY1) | ENSP00000490284.1:n.*856G>A | |
| ENST00000635951.1:c.*856G>A (ABHD14A-ACY1) | ENSP00000490649.1:n.*856G>A | |
| ENST00000635952.1:c.671G>A (ABHD14A-ACY1) | ENSP00000490434.1:p.Trp224Ter | |
| ENST00000636085.1:c.*430G>A (ABHD14A-ACY1) | ENSP00000489981.1:n.*430G>A | |
| ENST00000636089.1:c.*921G>A (ABHD14A-ACY1) | ENSP00000490657.1:n.*921G>A | |
| ENST00000636358.2:c.584G>A (ACY1) MANE Select | ENSP00000490149.1:p.Trp195Ter | |
| ENST00000636490.1:c.*921G>A (ABHD14A-ACY1) | ENSP00000490575.1:n.*921G>A | |
| ENST00000636556.1:c.*529G>A (ACY1) | ENSP00000490500.1:n.*529G>A | |
| ENST00000636646.1:c.*821G>A (ABHD14A-ACY1) | ENSP00000490688.1:n.*821G>A | |
| ENST00000636660.1:c.462G>A (ABHD14A-ACY1) | ||
| ENST00000636718.1:c.*1111G>A (ABHD14A-ACY1) | ENSP00000490429.1:n.*1111G>A | |
| ENST00000636826.1:c.*430G>A (ABHD14A-ACY1) | ENSP00000489721.1:n.*430G>A | |
| ENST00000636880.1:c.*294G>A (ACY1) | ENSP00000489947.1:n.*294G>A | |
| ENST00000636942.1:c.*465G>A (ABHD14A-ACY1) | ENSP00000490848.1:n.*465G>A | |
| ENST00000637025.1:c.*620G>A (ABHD14A-ACY1) | ENSP00000490236.1:n.*620G>A | |
| ENST00000637130.1:c.*720G>A (ABHD14A-ACY1) | ENSP00000490887.1:n.*720G>A | |
| ENST00000637199.1:n.57G>A (ACY1) | ||
| ENST00000637209.1:c.*294G>A (ACY1) | ENSP00000490708.1:n.*294G>A | |
| ENST00000637222.1:c.584G>A (ABHD14A-ACY1) | ENSP00000490353.1:p.Trp195Ter | |
| ENST00000637251.1:n.1657G>A (ACY1) | ||
| ENST00000637349.1:c.*147G>A (ACY1) | ENSP00000489688.1:n.*147G>A | |
| ENST00000637460.1:n.618G>A (ACY1) | ||
| ENST00000637461.1:c.431G>A (ABHD14A-ACY1) | ||
| ENST00000637512.1:c.749G>A (ABHD14A-ACY1) | ||
| ENST00000637563.1:c.*1247G>A (ABHD14A-ACY1) | ENSP00000490319.1:n.*1247G>A | |
| ENST00000637696.1:c.*856G>A (ABHD14A-ACY1) | ENSP00000490554.1:n.*856G>A | |
| ENST00000637730.1:c.1117G>A (ABHD14A-ACY1) | ||
| ENST00000637778.1:c.*1247G>A (ABHD14A-ACY1) | ENSP00000490052.1:n.*1247G>A | |
| ENST00000637978.1:c.1153G>A (ABHD14A-ACY1) | ||
| ENST00000638096.1:n.390G>A (ACY1) | ||
| ENST00000638136.1:n.915G>A (ACY1) | ||
| ENST00000404366.6:c.584G>A (ACY1) | ENSP00000384296.2:p.Trp195Ter | |
| ENST00000463721.5:c.*495G>A (ABHD14A-ACY1) | ENSP00000417688.1:n.*495G>A | |
| ENST00000463937.1:c.887G>A (ABHD14A-ACY1) | ENSP00000420487.1:p.Trp296Ter | |
| ENST00000464587.1:n.270G>A (ACY1) | ||
| ENST00000465121.5:n.657G>A (ACY1) | ||
| ENST00000469863.1:c.611G>A (ACY1) | ENSP00000419830.1:p.Trp204Ter | |
| ENST00000476351.5:c.479G>A (ACY1) | ENSP00000417056.1:p.Trp160Ter | |
| ENST00000476854.5:c.584G>A (ACY1) | ENSP00000419262.1:p.Trp195Ter | |
| ENST00000491318.5:c.584-321G>A (ACY1) | ENSP00000418683.1:n.584-321G>A | |
| ENST00000494103.5:c.368G>A (ACY1) | ENSP00000417618.1:p.Trp123Ter | |
| NM_000666.2:c.584G>A (ACY1) | NP_000657.1:p.Trp195Ter | |
| NM_001198895.1:c.584G>A (ACY1) | NP_001185824.1:p.Trp195Ter | |
| NM_001198896.1:c.368G>A (ACY1) | NP_001185825.1:p.Trp123Ter | |
| NM_001198897.1:c.584G>A (ACY1) | NP_001185826.1:p.Trp195Ter | |
| NM_001198898.1:c.479G>A (ACY1) | NP_001185827.1:p.Trp160Ter | |
| NM_001316331.1:c.854G>A (ABHD14A-ACY1) | NP_001303260.1:p.Trp285Ter | |
| NM_000666.3:c.584G>A (ACY1) MANE Select | NP_000657.1:p.Trp195Ter | |
| NM_001198895.2:c.584G>A (ACY1) | NP_001185824.1:p.Trp195Ter | |
| NM_001198896.2:c.368G>A (ACY1) | NP_001185825.1:p.Trp123Ter | |
| NM_001198897.2:c.584G>A (ACY1) | NP_001185826.1:p.Trp195Ter | |
| NM_001198898.2:c.479G>A (ACY1) | NP_001185827.1:p.Trp160Ter | |
| NM_001316331.2:c.854G>A (ABHD14A-ACY1) | NP_001303260.1:p.Trp285Ter |