Linked Data
dbSNP Id:
rs755790575
ExAC:
3:52020977 C / T
gnomAD v2:
3-52020977-C-T
gnomAD v3:
3-51986961-C-T
gnomAD v4:
3-51986961-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.51986961C>T , CM000665.2:g.51986961C>T | GRCh38 |
| NC_000003.11:g.52020977C>T , CM000665.1:g.52020977C>T | GRCh37 |
| NC_000003.10:g.51996017C>T | NCBI36 |
| NG_012036.1:g.8415C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404366.7:c.584-27C>T (ACY1) | ENSP00000384296.2:n.584-27C>T | |
| ENST00000464587.2:n.270-27C>T (ACY1) | ||
| ENST00000486081.6:c.*430-27C>T (ABHD14A-ACY1) | ENSP00000420395.1:n.*430-27C>T | |
| ENST00000635785.1:c.814-27C>T (ABHD14A-ACY1) | ||
| ENST00000635797.1:c.479-27C>T (ACY1) | ENSP00000490007.1:n.479-27C>T | |
| ENST00000635937.1:c.*729C>T (ABHD14A-ACY1) | ENSP00000489887.1:n.*729C>T | |
| ENST00000635941.1:c.746C>T (ACY1) | ENSP00000490309.1:n.746C>T | |
| ENST00000635946.1:c.*829C>T (ABHD14A-ACY1) | ENSP00000490284.1:n.*829C>T | |
| ENST00000635951.1:c.*829C>T (ABHD14A-ACY1) | ENSP00000490649.1:n.*829C>T | |
| ENST00000635952.1:c.671-27C>T (ABHD14A-ACY1) | ENSP00000490434.1:n.671-27C>T | |
| ENST00000636047.1:n.577C>T (ACY1) | ||
| ENST00000636085.1:c.*430-27C>T (ABHD14A-ACY1) | ENSP00000489981.1:n.*430-27C>T | |
| ENST00000636089.1:c.*894C>T (ABHD14A-ACY1) | ENSP00000490657.1:n.*894C>T | |
| ENST00000636358.2:c.584-27C>T (ACY1) MANE Select | ENSP00000490149.1:n.584-27C>T | |
| ENST00000636490.1:c.*894C>T (ABHD14A-ACY1) | ENSP00000490575.1:n.*894C>T | |
| ENST00000636556.1:c.*529-27C>T (ACY1) | ENSP00000490500.1:n.*529-27C>T | |
| ENST00000636646.1:c.*794C>T (ABHD14A-ACY1) | ENSP00000490688.1:n.*794C>T | |
| ENST00000636660.1:c.462-27C>T (ABHD14A-ACY1) | ||
| ENST00000636718.1:c.*1084C>T (ABHD14A-ACY1) | ENSP00000490429.1:n.*1084C>T | |
| ENST00000636826.1:c.*430-27C>T (ABHD14A-ACY1) | ENSP00000489721.1:n.*430-27C>T | |
| ENST00000636880.1:c.*294-27C>T (ACY1) | ENSP00000489947.1:n.*294-27C>T | |
| ENST00000636942.1:c.*438C>T (ABHD14A-ACY1) | ENSP00000490848.1:n.*438C>T | |
| ENST00000637025.1:c.*593C>T (ABHD14A-ACY1) | ENSP00000490236.1:n.*593C>T | |
| ENST00000637130.1:c.*693C>T (ABHD14A-ACY1) | ENSP00000490887.1:n.*693C>T | |
| ENST00000637199.1:n.30C>T (ACY1) | ||
| ENST00000637209.1:c.*294-27C>T (ACY1) | ENSP00000490708.1:n.*294-27C>T | |
| ENST00000637222.1:c.584-27C>T (ABHD14A-ACY1) | ENSP00000490353.1:n.584-27C>T | |
| ENST00000637251.1:n.1630C>T (ACY1) | ||
| ENST00000637349.1:c.*147-27C>T (ACY1) | ENSP00000489688.1:n.*147-27C>T | |
| ENST00000637460.1:n.591C>T (ACY1) | ||
| ENST00000637461.1:c.431-27C>T (ABHD14A-ACY1) | ||
| ENST00000637512.1:c.749-27C>T (ABHD14A-ACY1) | ||
| ENST00000637563.1:c.*1220C>T (ABHD14A-ACY1) | ENSP00000490319.1:n.*1220C>T | |
| ENST00000637696.1:c.*829C>T (ABHD14A-ACY1) | ENSP00000490554.1:n.*829C>T | |
| ENST00000637730.1:c.1090C>T (ABHD14A-ACY1) | ||
| ENST00000637778.1:c.*1220C>T (ABHD14A-ACY1) | ENSP00000490052.1:n.*1220C>T | |
| ENST00000637978.1:c.1153-27C>T (ABHD14A-ACY1) | ||
| ENST00000638096.1:n.363C>T (ACY1) | ||
| ENST00000638136.1:n.915-27C>T (ACY1) | ||
| ENST00000404366.6:c.584-27C>T (ACY1) | ENSP00000384296.2:n.584-27C>T | |
| ENST00000463721.5:c.*495-27C>T (ABHD14A-ACY1) | ENSP00000417688.1:n.*495-27C>T | |
| ENST00000463937.1:c.887-27C>T (ABHD14A-ACY1) | ENSP00000420487.1:n.887-27C>T | |
| ENST00000464587.1:n.270-27C>T (ACY1) | ||
| ENST00000465121.5:n.657-27C>T (ACY1) | ||
| ENST00000469863.1:c.611-27C>T (ACY1) | ENSP00000419830.1:n.611-27C>T | |
| ENST00000476351.5:c.479-27C>T (ACY1) | ENSP00000417056.1:n.479-27C>T | |
| ENST00000476854.5:c.584-27C>T (ACY1) | ENSP00000419262.1:n.584-27C>T | |
| ENST00000491318.5:c.583+300C>T (ACY1) | ENSP00000418683.1:n.583+300C>T | |
| ENST00000494103.5:c.368-27C>T (ACY1) | ENSP00000417618.1:n.368-27C>T | |
| NM_000666.2:c.584-27C>T (ACY1) | NP_000657.1:n.584-27C>T | |
| NM_001198895.1:c.584-27C>T (ACY1) | NP_001185824.1:n.584-27C>T | |
| NM_001198896.1:c.368-27C>T (ACY1) | NP_001185825.1:n.368-27C>T | |
| NM_001198897.1:c.584-27C>T (ACY1) | NP_001185826.1:n.584-27C>T | |
| NM_001198898.1:c.479-27C>T (ACY1) | NP_001185827.1:n.479-27C>T | |
| NM_001316331.1:c.854-27C>T (ABHD14A-ACY1) | NP_001303260.1:n.854-27C>T | |
| NM_000666.3:c.584-27C>T (ACY1) MANE Select | NP_000657.1:n.584-27C>T | |
| NM_001198895.2:c.584-27C>T (ACY1) | NP_001185824.1:n.584-27C>T | |
| NM_001198896.2:c.368-27C>T (ACY1) | NP_001185825.1:n.368-27C>T | |
| NM_001198897.2:c.584-27C>T (ACY1) | NP_001185826.1:n.584-27C>T | |
| NM_001198898.2:c.479-27C>T (ACY1) | NP_001185827.1:n.479-27C>T | |
| NM_001316331.2:c.854-27C>T (ABHD14A-ACY1) | NP_001303260.1:n.854-27C>T |