Linked Data
dbSNP Id:
rs992725621
gnomAD v2:
3-52020838-G-A
gnomAD v3:
3-51986822-G-A
gnomAD v4:
3-51986822-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.51986822G>A , CM000665.2:g.51986822G>A | GRCh38 |
| NC_000003.11:g.52020838G>A , CM000665.1:g.52020838G>A | GRCh37 |
| NC_000003.10:g.51995878G>A | NCBI36 |
| NG_012036.1:g.8276G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404366.7:c.583+161G>A (ACY1) | ENSP00000384296.2:n.583+161G>A | |
| ENST00000464587.2:n.269+161G>A (ACY1) | ||
| ENST00000486081.6:c.*429+161G>A (ABHD14A-ACY1) | ENSP00000420395.1:n.*429+161G>A | |
| ENST00000635785.1:c.813+161G>A (ABHD14A-ACY1) | ||
| ENST00000635797.1:c.478+161G>A (ACY1) | ENSP00000490007.1:n.478+161G>A | |
| ENST00000635937.1:c.*590G>A (ABHD14A-ACY1) | ENSP00000489887.1:n.*590G>A | |
| ENST00000635941.1:c.607G>A (ACY1) | ENSP00000490309.1:n.607G>A | |
| ENST00000635946.1:c.*690G>A (ABHD14A-ACY1) | ENSP00000490284.1:n.*690G>A | |
| ENST00000635951.1:c.*690G>A (ABHD14A-ACY1) | ENSP00000490649.1:n.*690G>A | |
| ENST00000635952.1:c.670+161G>A (ABHD14A-ACY1) | ENSP00000490434.1:n.670+161G>A | |
| ENST00000636047.1:n.561-123G>A (ACY1) | ||
| ENST00000636085.1:c.*429+161G>A (ABHD14A-ACY1) | ENSP00000489981.1:n.*429+161G>A | |
| ENST00000636089.1:c.*755G>A (ABHD14A-ACY1) | ENSP00000490657.1:n.*755G>A | |
| ENST00000636358.2:c.583+161G>A (ACY1) MANE Select | ENSP00000490149.1:n.583+161G>A | |
| ENST00000636490.1:c.*755G>A (ABHD14A-ACY1) | ENSP00000490575.1:n.*755G>A | |
| ENST00000636556.1:c.*528+161G>A (ACY1) | ENSP00000490500.1:n.*528+161G>A | |
| ENST00000636646.1:c.*655G>A (ABHD14A-ACY1) | ENSP00000490688.1:n.*655G>A | |
| ENST00000636660.1:c.461+161G>A (ABHD14A-ACY1) | ||
| ENST00000636718.1:c.*945G>A (ABHD14A-ACY1) | ENSP00000490429.1:n.*945G>A | |
| ENST00000636826.1:c.*429+161G>A (ABHD14A-ACY1) | ENSP00000489721.1:n.*429+161G>A | |
| ENST00000636880.1:c.*293+161G>A (ACY1) | ENSP00000489947.1:n.*293+161G>A | |
| ENST00000636942.1:c.*430-131G>A (ABHD14A-ACY1) | ENSP00000490848.1:n.*430-131G>A | |
| ENST00000637025.1:c.*454G>A (ABHD14A-ACY1) | ENSP00000490236.1:n.*454G>A | |
| ENST00000637130.1:c.*554G>A (ABHD14A-ACY1) | ENSP00000490887.1:n.*554G>A | |
| ENST00000637209.1:c.*293+161G>A (ACY1) | ENSP00000490708.1:n.*293+161G>A | |
| ENST00000637222.1:c.583+161G>A (ABHD14A-ACY1) | ENSP00000490353.1:n.583+161G>A | |
| ENST00000637251.1:n.1491G>A (ACY1) | ||
| ENST00000637349.1:c.*146+161G>A (ACY1) | ENSP00000489688.1:n.*146+161G>A | |
| ENST00000637460.1:n.575-123G>A (ACY1) | ||
| ENST00000637461.1:c.430+161G>A (ABHD14A-ACY1) | ||
| ENST00000637512.1:c.748+161G>A (ABHD14A-ACY1) | ||
| ENST00000637563.1:c.*1081G>A (ABHD14A-ACY1) | ENSP00000490319.1:n.*1081G>A | |
| ENST00000637696.1:c.*690G>A (ABHD14A-ACY1) | ENSP00000490554.1:n.*690G>A | |
| ENST00000637730.1:c.951G>A (ABHD14A-ACY1) | ||
| ENST00000637778.1:c.*1081G>A (ABHD14A-ACY1) | ENSP00000490052.1:n.*1081G>A | |
| ENST00000637978.1:c.1152+161G>A (ABHD14A-ACY1) | ||
| ENST00000638096.1:n.224G>A (ACY1) | ||
| ENST00000638136.1:n.914+161G>A (ACY1) | ||
| ENST00000404366.6:c.583+161G>A (ACY1) | ENSP00000384296.2:n.583+161G>A | |
| ENST00000463721.5:c.*494+161G>A (ABHD14A-ACY1) | ENSP00000417688.1:n.*494+161G>A | |
| ENST00000463937.1:c.886+161G>A (ABHD14A-ACY1) | ENSP00000420487.1:n.886+161G>A | |
| ENST00000464587.1:n.269+161G>A (ACY1) | ||
| ENST00000465121.5:n.656+161G>A (ACY1) | ||
| ENST00000469863.1:c.610+161G>A (ACY1) | ENSP00000419830.1:n.610+161G>A | |
| ENST00000476351.5:c.478+161G>A (ACY1) | ENSP00000417056.1:n.478+161G>A | |
| ENST00000476854.5:c.583+161G>A (ACY1) | ENSP00000419262.1:n.583+161G>A | |
| ENST00000491318.5:c.583+161G>A (ACY1) | ENSP00000418683.1:n.583+161G>A | |
| ENST00000494103.5:c.367+161G>A (ACY1) | ENSP00000417618.1:n.367+161G>A | |
| ENST00000497128.1:n.847G>A (ABHD14A-ACY1) | ||
| NM_000666.2:c.583+161G>A (ACY1) | NP_000657.1:n.583+161G>A | |
| NM_001198895.1:c.583+161G>A (ACY1) | NP_001185824.1:n.583+161G>A | |
| NM_001198896.1:c.367+161G>A (ACY1) | NP_001185825.1:n.367+161G>A | |
| NM_001198897.1:c.583+161G>A (ACY1) | NP_001185826.1:n.583+161G>A | |
| NM_001198898.1:c.478+161G>A (ACY1) | NP_001185827.1:n.478+161G>A | |
| NM_001316331.1:c.853+161G>A (ABHD14A-ACY1) | NP_001303260.1:n.853+161G>A | |
| NM_000666.3:c.583+161G>A (ACY1) MANE Select | NP_000657.1:n.583+161G>A | |
| NM_001198895.2:c.583+161G>A (ACY1) | NP_001185824.1:n.583+161G>A | |
| NM_001198896.2:c.367+161G>A (ACY1) | NP_001185825.1:n.367+161G>A | |
| NM_001198897.2:c.583+161G>A (ACY1) | NP_001185826.1:n.583+161G>A | |
| NM_001198898.2:c.478+161G>A (ACY1) | NP_001185827.1:n.478+161G>A | |
| NM_001316331.2:c.853+161G>A (ABHD14A-ACY1) | NP_001303260.1:n.853+161G>A |