Linked Data
dbSNP Id:
rs759194658
ExAC:
3:52021125 C / A
gnomAD v2:
3-52021125-C-A
gnomAD v4:
3-51987109-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.51987109C>A , CM000665.2:g.51987109C>A | GRCh38 |
| NC_000003.11:g.52021125C>A , CM000665.1:g.52021125C>A | GRCh37 |
| NC_000003.10:g.51996165C>A | NCBI36 |
| NG_012036.1:g.8563C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404366.7:c.658-38C>A (ACY1) | ENSP00000384296.2:n.658-38C>A | |
| ENST00000464587.2:n.344-38C>A (ACY1) | ||
| ENST00000486081.6:c.*504-38C>A (ABHD14A-ACY1) | ENSP00000420395.1:n.*504-38C>A | |
| ENST00000635785.1:c.887+48C>A (ABHD14A-ACY1) | ||
| ENST00000635797.1:c.553-38C>A (ACY1) | ENSP00000490007.1:n.553-38C>A | |
| ENST00000635937.1:c.*877C>A (ABHD14A-ACY1) | ENSP00000489887.1:n.*877C>A | |
| ENST00000635941.1:c.894C>A (ACY1) | ENSP00000490309.1:n.894C>A | |
| ENST00000635946.1:c.*977C>A (ABHD14A-ACY1) | ENSP00000490284.1:n.*977C>A | |
| ENST00000635951.1:c.*930-38C>A (ABHD14A-ACY1) | ENSP00000490649.1:n.*930-38C>A | |
| ENST00000635952.1:c.745-38C>A (ABHD14A-ACY1) | ENSP00000490434.1:n.745-38C>A | |
| ENST00000636085.1:c.*551C>A (ABHD14A-ACY1) | ENSP00000489981.1:n.*551C>A | |
| ENST00000636089.1:c.*995-38C>A (ABHD14A-ACY1) | ENSP00000490657.1:n.*995-38C>A | |
| ENST00000636358.2:c.658-38C>A (ACY1) MANE Select | ENSP00000490149.1:n.658-38C>A | |
| ENST00000636490.1:c.*995-38C>A (ABHD14A-ACY1) | ENSP00000490575.1:n.*995-38C>A | |
| ENST00000636556.1:c.*603-38C>A (ACY1) | ENSP00000490500.1:n.*603-38C>A | |
| ENST00000636646.1:c.*895-38C>A (ABHD14A-ACY1) | ENSP00000490688.1:n.*895-38C>A | |
| ENST00000636660.1:c.583C>A (ABHD14A-ACY1) | ||
| ENST00000636718.1:c.*1232C>A (ABHD14A-ACY1) | ENSP00000490429.1:n.*1232C>A | |
| ENST00000636826.1:c.*551C>A (ABHD14A-ACY1) | ENSP00000489721.1:n.*551C>A | |
| ENST00000636880.1:c.*368-38C>A (ACY1) | ENSP00000489947.1:n.*368-38C>A | |
| ENST00000636942.1:c.*539-38C>A (ABHD14A-ACY1) | ENSP00000490848.1:n.*539-38C>A | |
| ENST00000637025.1:c.*741C>A (ABHD14A-ACY1) | ENSP00000490236.1:n.*741C>A | |
| ENST00000637034.1:n.53C>A (ACY1) | ||
| ENST00000637130.1:c.*841C>A (ABHD14A-ACY1) | ENSP00000490887.1:n.*841C>A | |
| ENST00000637199.1:n.131-38C>A (ACY1) | ||
| ENST00000637209.1:c.*368-38C>A (ACY1) | ENSP00000490708.1:n.*368-38C>A | |
| ENST00000637222.1:c.658-38C>A (ABHD14A-ACY1) | ENSP00000490353.1:n.658-38C>A | |
| ENST00000637349.1:c.*220+48C>A (ACY1) | ENSP00000489688.1:n.*220+48C>A | |
| ENST00000637460.1:n.692-38C>A (ACY1) | ||
| ENST00000637461.1:c.552C>A (ABHD14A-ACY1) | ||
| ENST00000637512.1:c.870C>A (ABHD14A-ACY1) | ||
| ENST00000637563.1:c.*1368C>A (ABHD14A-ACY1) | ENSP00000490319.1:n.*1368C>A | |
| ENST00000637696.1:c.*977C>A (ABHD14A-ACY1) | ENSP00000490554.1:n.*977C>A | |
| ENST00000637730.1:c.1191-38C>A (ABHD14A-ACY1) | ||
| ENST00000637778.1:c.*1368C>A (ABHD14A-ACY1) | ENSP00000490052.1:n.*1368C>A | |
| ENST00000637978.1:c.1227-38C>A (ABHD14A-ACY1) | ||
| ENST00000638096.1:n.511C>A (ACY1) | ||
| ENST00000638136.1:n.1036C>A (ACY1) | ||
| ENST00000404366.6:c.658-38C>A (ACY1) | ENSP00000384296.2:n.658-38C>A | |
| ENST00000463721.5:c.*569-38C>A (ABHD14A-ACY1) | ENSP00000417688.1:n.*569-38C>A | |
| ENST00000463937.1:c.961-38C>A (ABHD14A-ACY1) | ENSP00000420487.1:n.961-38C>A | |
| ENST00000464587.1:n.344-38C>A (ACY1) | ||
| ENST00000465121.5:n.731-38C>A (ACY1) | ||
| ENST00000476351.5:c.553-38C>A (ACY1) | ENSP00000417056.1:n.553-38C>A | |
| ENST00000476854.5:c.657+48C>A (ACY1) | ENSP00000419262.1:n.657+48C>A | |
| ENST00000491318.5:c.584-200C>A (ACY1) | ENSP00000418683.1:n.584-200C>A | |
| ENST00000494103.5:c.442-38C>A (ACY1) | ENSP00000417618.1:n.442-38C>A | |
| NM_000666.2:c.658-38C>A (ACY1) | NP_000657.1:n.658-38C>A | |
| NM_001198895.1:c.658-38C>A (ACY1) | NP_001185824.1:n.658-38C>A | |
| NM_001198896.1:c.442-38C>A (ACY1) | NP_001185825.1:n.442-38C>A | |
| NM_001198897.1:c.657+48C>A (ACY1) | NP_001185826.1:n.657+48C>A | |
| NM_001198898.1:c.553-38C>A (ACY1) | NP_001185827.1:n.553-38C>A | |
| NM_001316331.1:c.928-38C>A (ABHD14A-ACY1) | NP_001303260.1:n.928-38C>A | |
| NM_000666.3:c.658-38C>A (ACY1) MANE Select | NP_000657.1:n.658-38C>A | |
| NM_001198895.2:c.658-38C>A (ACY1) | NP_001185824.1:n.658-38C>A | |
| NM_001198896.2:c.442-38C>A (ACY1) | NP_001185825.1:n.442-38C>A | |
| NM_001198897.2:c.657+48C>A (ACY1) | NP_001185826.1:n.657+48C>A | |
| NM_001198898.2:c.553-38C>A (ACY1) | NP_001185827.1:n.553-38C>A | |
| NM_001316331.2:c.928-38C>A (ABHD14A-ACY1) | NP_001303260.1:n.928-38C>A |