Linked Data
dbSNP Id:
rs1157429383
gnomAD v2:
3-52021020-C-T
gnomAD v3:
3-51987004-C-T
gnomAD v4:
3-51987004-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.51987004C>T , CM000665.2:g.51987004C>T | GRCh38 |
| NC_000003.11:g.52021020C>T , CM000665.1:g.52021020C>T | GRCh37 |
| NC_000003.10:g.51996060C>T | NCBI36 |
| NG_012036.1:g.8458C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404366.7:c.600C>T (ACY1) | ENSP00000384296.2:p.Ser200= | |
| ENST00000464587.2:n.286C>T (ACY1) | ||
| ENST00000486081.6:c.*446C>T (ABHD14A-ACY1) | ENSP00000420395.1:n.*446C>T | |
| ENST00000635785.1:c.830C>T (ABHD14A-ACY1) | ||
| ENST00000635797.1:c.495C>T (ACY1) | ENSP00000490007.1:p.Ser165= | |
| ENST00000635937.1:c.*772C>T (ABHD14A-ACY1) | ENSP00000489887.1:n.*772C>T | |
| ENST00000635941.1:c.789C>T (ACY1) | ENSP00000490309.1:n.789C>T | |
| ENST00000635946.1:c.*872C>T (ABHD14A-ACY1) | ENSP00000490284.1:n.*872C>T | |
| ENST00000635951.1:c.*872C>T (ABHD14A-ACY1) | ENSP00000490649.1:n.*872C>T | |
| ENST00000635952.1:c.687C>T (ABHD14A-ACY1) | ENSP00000490434.1:p.Ser229= | |
| ENST00000636085.1:c.*446C>T (ABHD14A-ACY1) | ENSP00000489981.1:n.*446C>T | |
| ENST00000636089.1:c.*937C>T (ABHD14A-ACY1) | ENSP00000490657.1:n.*937C>T | |
| ENST00000636358.2:c.600C>T (ACY1) MANE Select | ENSP00000490149.1:p.Ser200= | |
| ENST00000636490.1:c.*937C>T (ABHD14A-ACY1) | ENSP00000490575.1:n.*937C>T | |
| ENST00000636556.1:c.*545C>T (ACY1) | ENSP00000490500.1:n.*545C>T | |
| ENST00000636646.1:c.*837C>T (ABHD14A-ACY1) | ENSP00000490688.1:n.*837C>T | |
| ENST00000636660.1:c.478C>T (ABHD14A-ACY1) | ||
| ENST00000636718.1:c.*1127C>T (ABHD14A-ACY1) | ENSP00000490429.1:n.*1127C>T | |
| ENST00000636826.1:c.*446C>T (ABHD14A-ACY1) | ENSP00000489721.1:n.*446C>T | |
| ENST00000636880.1:c.*310C>T (ACY1) | ENSP00000489947.1:n.*310C>T | |
| ENST00000636942.1:c.*481C>T (ABHD14A-ACY1) | ENSP00000490848.1:n.*481C>T | |
| ENST00000637025.1:c.*636C>T (ABHD14A-ACY1) | ENSP00000490236.1:n.*636C>T | |
| ENST00000637130.1:c.*736C>T (ABHD14A-ACY1) | ENSP00000490887.1:n.*736C>T | |
| ENST00000637199.1:n.73C>T (ACY1) | ||
| ENST00000637209.1:c.*310C>T (ACY1) | ENSP00000490708.1:n.*310C>T | |
| ENST00000637222.1:c.600C>T (ABHD14A-ACY1) | ENSP00000490353.1:p.Ser200= | |
| ENST00000637251.1:n.1673C>T (ACY1) | ||
| ENST00000637349.1:c.*163C>T (ACY1) | ENSP00000489688.1:n.*163C>T | |
| ENST00000637460.1:n.634C>T (ACY1) | ||
| ENST00000637461.1:c.447C>T (ABHD14A-ACY1) | ||
| ENST00000637512.1:c.765C>T (ABHD14A-ACY1) | ||
| ENST00000637563.1:c.*1263C>T (ABHD14A-ACY1) | ENSP00000490319.1:n.*1263C>T | |
| ENST00000637696.1:c.*872C>T (ABHD14A-ACY1) | ENSP00000490554.1:n.*872C>T | |
| ENST00000637730.1:c.1133C>T (ABHD14A-ACY1) | ||
| ENST00000637778.1:c.*1263C>T (ABHD14A-ACY1) | ENSP00000490052.1:n.*1263C>T | |
| ENST00000637978.1:c.1169C>T (ABHD14A-ACY1) | ||
| ENST00000638096.1:n.406C>T (ACY1) | ||
| ENST00000638136.1:n.931C>T (ACY1) | ||
| ENST00000404366.6:c.600C>T (ACY1) | ENSP00000384296.2:p.Ser200= | |
| ENST00000463721.5:c.*511C>T (ABHD14A-ACY1) | ENSP00000417688.1:n.*511C>T | |
| ENST00000463937.1:c.903C>T (ABHD14A-ACY1) | ENSP00000420487.1:p.Ser301= | |
| ENST00000464587.1:n.286C>T (ACY1) | ||
| ENST00000465121.5:n.673C>T (ACY1) | ||
| ENST00000469863.1:c.627C>T (ACY1) | ENSP00000419830.1:p.Ser209= | |
| ENST00000476351.5:c.495C>T (ACY1) | ENSP00000417056.1:p.Ser165= | |
| ENST00000476854.5:c.600C>T (ACY1) | ENSP00000419262.1:p.Ser200= | |
| ENST00000491318.5:c.584-305C>T (ACY1) | ENSP00000418683.1:n.584-305C>T | |
| ENST00000494103.5:c.384C>T (ACY1) | ENSP00000417618.1:p.Ser128= | |
| NM_000666.2:c.600C>T (ACY1) | NP_000657.1:p.Ser200= | |
| NM_001198895.1:c.600C>T (ACY1) | NP_001185824.1:p.Ser200= | |
| NM_001198896.1:c.384C>T (ACY1) | NP_001185825.1:p.Ser128= | |
| NM_001198897.1:c.600C>T (ACY1) | NP_001185826.1:p.Ser200= | |
| NM_001198898.1:c.495C>T (ACY1) | NP_001185827.1:p.Ser165= | |
| NM_001316331.1:c.870C>T (ABHD14A-ACY1) | NP_001303260.1:p.Ser290= | |
| NM_000666.3:c.600C>T (ACY1) MANE Select | NP_000657.1:p.Ser200= | |
| NM_001198895.2:c.600C>T (ACY1) | NP_001185824.1:p.Ser200= | |
| NM_001198896.2:c.384C>T (ACY1) | NP_001185825.1:p.Ser128= | |
| NM_001198897.2:c.600C>T (ACY1) | NP_001185826.1:p.Ser200= | |
| NM_001198898.2:c.495C>T (ACY1) | NP_001185827.1:p.Ser165= | |
| NM_001316331.2:c.870C>T (ABHD14A-ACY1) | NP_001303260.1:p.Ser290= |