Linked Data
dbSNP Id:
rs375319041
gnomAD v2:
3-52021133-A-G
gnomAD v3:
3-51987117-A-G
gnomAD v4:
3-51987117-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.51987117A>G , CM000665.2:g.51987117A>G | GRCh38 |
| NC_000003.11:g.52021133A>G , CM000665.1:g.52021133A>G | GRCh37 |
| NC_000003.10:g.51996173A>G | NCBI36 |
| NG_012036.1:g.8571A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404366.7:c.658-30A>G (ACY1) | ENSP00000384296.2:n.658-30A>G | |
| ENST00000464587.2:n.344-30A>G (ACY1) | ||
| ENST00000486081.6:c.*504-30A>G (ABHD14A-ACY1) | ENSP00000420395.1:n.*504-30A>G | |
| ENST00000635785.1:c.887+56A>G (ABHD14A-ACY1) | ||
| ENST00000635797.1:c.553-30A>G (ACY1) | ENSP00000490007.1:n.553-30A>G | |
| ENST00000635937.1:c.*885A>G (ABHD14A-ACY1) | ENSP00000489887.1:n.*885A>G | |
| ENST00000635941.1:c.902A>G (ACY1) | ENSP00000490309.1:n.902A>G | |
| ENST00000635946.1:c.*985A>G (ABHD14A-ACY1) | ENSP00000490284.1:n.*985A>G | |
| ENST00000635951.1:c.*930-30A>G (ABHD14A-ACY1) | ENSP00000490649.1:n.*930-30A>G | |
| ENST00000635952.1:c.745-30A>G (ABHD14A-ACY1) | ENSP00000490434.1:n.745-30A>G | |
| ENST00000636085.1:c.*559A>G (ABHD14A-ACY1) | ENSP00000489981.1:n.*559A>G | |
| ENST00000636089.1:c.*995-30A>G (ABHD14A-ACY1) | ENSP00000490657.1:n.*995-30A>G | |
| ENST00000636358.2:c.658-30A>G (ACY1) MANE Select | ENSP00000490149.1:n.658-30A>G | |
| ENST00000636490.1:c.*995-30A>G (ABHD14A-ACY1) | ENSP00000490575.1:n.*995-30A>G | |
| ENST00000636556.1:c.*603-30A>G (ACY1) | ENSP00000490500.1:n.*603-30A>G | |
| ENST00000636646.1:c.*895-30A>G (ABHD14A-ACY1) | ENSP00000490688.1:n.*895-30A>G | |
| ENST00000636660.1:c.591A>G (ABHD14A-ACY1) | ||
| ENST00000636718.1:c.*1240A>G (ABHD14A-ACY1) | ENSP00000490429.1:n.*1240A>G | |
| ENST00000636826.1:c.*559A>G (ABHD14A-ACY1) | ENSP00000489721.1:n.*559A>G | |
| ENST00000636880.1:c.*368-30A>G (ACY1) | ENSP00000489947.1:n.*368-30A>G | |
| ENST00000636942.1:c.*539-30A>G (ABHD14A-ACY1) | ENSP00000490848.1:n.*539-30A>G | |
| ENST00000637025.1:c.*749A>G (ABHD14A-ACY1) | ENSP00000490236.1:n.*749A>G | |
| ENST00000637034.1:n.61A>G (ACY1) | ||
| ENST00000637130.1:c.*849A>G (ABHD14A-ACY1) | ENSP00000490887.1:n.*849A>G | |
| ENST00000637199.1:n.131-30A>G (ACY1) | ||
| ENST00000637209.1:c.*368-30A>G (ACY1) | ENSP00000490708.1:n.*368-30A>G | |
| ENST00000637222.1:c.658-30A>G (ABHD14A-ACY1) | ENSP00000490353.1:n.658-30A>G | |
| ENST00000637349.1:c.*220+56A>G (ACY1) | ENSP00000489688.1:n.*220+56A>G | |
| ENST00000637460.1:n.692-30A>G (ACY1) | ||
| ENST00000637461.1:c.560A>G (ABHD14A-ACY1) | ||
| ENST00000637512.1:c.878A>G (ABHD14A-ACY1) | ||
| ENST00000637563.1:c.*1376A>G (ABHD14A-ACY1) | ENSP00000490319.1:n.*1376A>G | |
| ENST00000637696.1:c.*985A>G (ABHD14A-ACY1) | ENSP00000490554.1:n.*985A>G | |
| ENST00000637730.1:c.1191-30A>G (ABHD14A-ACY1) | ||
| ENST00000637778.1:c.*1376A>G (ABHD14A-ACY1) | ENSP00000490052.1:n.*1376A>G | |
| ENST00000637978.1:c.1227-30A>G (ABHD14A-ACY1) | ||
| ENST00000638096.1:n.519A>G (ACY1) | ||
| ENST00000638136.1:n.1044A>G (ACY1) | ||
| ENST00000404366.6:c.658-30A>G (ACY1) | ENSP00000384296.2:n.658-30A>G | |
| ENST00000463721.5:c.*569-30A>G (ABHD14A-ACY1) | ENSP00000417688.1:n.*569-30A>G | |
| ENST00000463937.1:c.961-30A>G (ABHD14A-ACY1) | ENSP00000420487.1:n.961-30A>G | |
| ENST00000464587.1:n.344-30A>G (ACY1) | ||
| ENST00000465121.5:n.731-30A>G (ACY1) | ||
| ENST00000476351.5:c.553-30A>G (ACY1) | ENSP00000417056.1:n.553-30A>G | |
| ENST00000476854.5:c.657+56A>G (ACY1) | ENSP00000419262.1:n.657+56A>G | |
| ENST00000491318.5:c.584-192A>G (ACY1) | ENSP00000418683.1:n.584-192A>G | |
| ENST00000494103.5:c.442-30A>G (ACY1) | ENSP00000417618.1:n.442-30A>G | |
| NM_000666.2:c.658-30A>G (ACY1) | NP_000657.1:n.658-30A>G | |
| NM_001198895.1:c.658-30A>G (ACY1) | NP_001185824.1:n.658-30A>G | |
| NM_001198896.1:c.442-30A>G (ACY1) | NP_001185825.1:n.442-30A>G | |
| NM_001198897.1:c.657+56A>G (ACY1) | NP_001185826.1:n.657+56A>G | |
| NM_001198898.1:c.553-30A>G (ACY1) | NP_001185827.1:n.553-30A>G | |
| NM_001316331.1:c.928-30A>G (ABHD14A-ACY1) | NP_001303260.1:n.928-30A>G | |
| NM_000666.3:c.658-30A>G (ACY1) MANE Select | NP_000657.1:n.658-30A>G | |
| NM_001198895.2:c.658-30A>G (ACY1) | NP_001185824.1:n.658-30A>G | |
| NM_001198896.2:c.442-30A>G (ACY1) | NP_001185825.1:n.442-30A>G | |
| NM_001198897.2:c.657+56A>G (ACY1) | NP_001185826.1:n.657+56A>G | |
| NM_001198898.2:c.553-30A>G (ACY1) | NP_001185827.1:n.553-30A>G | |
| NM_001316331.2:c.928-30A>G (ABHD14A-ACY1) | NP_001303260.1:n.928-30A>G |