Linked Data
dbSNP Id:
rs1287822854
gnomAD v2:
3-52021196-G-A
gnomAD v3:
3-51987180-G-A
gnomAD v4:
3-51987180-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.51987180G>A , CM000665.2:g.51987180G>A | GRCh38 |
| NC_000003.11:g.52021196G>A , CM000665.1:g.52021196G>A | GRCh37 |
| NC_000003.10:g.51996236G>A | NCBI36 |
| NG_012036.1:g.8634G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404366.7:c.691G>A (ACY1) | ENSP00000384296.2:p.Glu231Lys | |
| ENST00000464587.2:n.377G>A (ACY1) | ||
| ENST00000486081.6:c.*537G>A (ABHD14A-ACY1) | ENSP00000420395.1:n.*537G>A | |
| ENST00000635785.1:c.887+119G>A (ABHD14A-ACY1) | ||
| ENST00000635797.1:c.586G>A (ACY1) | ENSP00000490007.1:p.Glu196Lys | |
| ENST00000635937.1:c.*948G>A (ABHD14A-ACY1) | ENSP00000489887.1:n.*948G>A | |
| ENST00000635941.1:c.965G>A (ACY1) | ENSP00000490309.1:n.965G>A | |
| ENST00000635946.1:c.*1048G>A (ABHD14A-ACY1) | ENSP00000490284.1:n.*1048G>A | |
| ENST00000635951.1:c.*963G>A (ABHD14A-ACY1) | ENSP00000490649.1:n.*963G>A | |
| ENST00000635952.1:c.778G>A (ABHD14A-ACY1) | ENSP00000490434.1:p.Glu260Lys | |
| ENST00000636089.1:c.*1028G>A (ABHD14A-ACY1) | ENSP00000490657.1:n.*1028G>A | |
| ENST00000636358.2:c.691G>A (ACY1) MANE Select | ENSP00000490149.1:p.Glu231Lys | |
| ENST00000636490.1:c.*1028G>A (ABHD14A-ACY1) | ENSP00000490575.1:n.*1028G>A | |
| ENST00000636556.1:c.*636G>A (ACY1) | ENSP00000490500.1:n.*636G>A | |
| ENST00000636646.1:c.*928G>A (ABHD14A-ACY1) | ENSP00000490688.1:n.*928G>A | |
| ENST00000636660.1:c.654G>A (ABHD14A-ACY1) | ||
| ENST00000636718.1:c.*1303G>A (ABHD14A-ACY1) | ENSP00000490429.1:n.*1303G>A | |
| ENST00000636826.1:c.*622G>A (ABHD14A-ACY1) | ENSP00000489721.1:n.*622G>A | |
| ENST00000636880.1:c.*401G>A (ACY1) | ENSP00000489947.1:n.*401G>A | |
| ENST00000636942.1:c.*572G>A (ABHD14A-ACY1) | ENSP00000490848.1:n.*572G>A | |
| ENST00000637025.1:c.*812G>A (ABHD14A-ACY1) | ENSP00000490236.1:n.*812G>A | |
| ENST00000637034.1:n.124G>A (ACY1) | ||
| ENST00000637130.1:c.*912G>A (ABHD14A-ACY1) | ENSP00000490887.1:n.*912G>A | |
| ENST00000637199.1:n.164G>A (ACY1) | ||
| ENST00000637222.1:c.691G>A (ABHD14A-ACY1) | ENSP00000490353.1:p.Glu231Lys | |
| ENST00000637349.1:c.*220+119G>A (ACY1) | ENSP00000489688.1:n.*220+119G>A | |
| ENST00000637460.1:n.725G>A (ACY1) | ||
| ENST00000637512.1:c.941G>A (ABHD14A-ACY1) | ||
| ENST00000637563.1:c.*1439G>A (ABHD14A-ACY1) | ENSP00000490319.1:n.*1439G>A | |
| ENST00000637696.1:c.*1048G>A (ABHD14A-ACY1) | ENSP00000490554.1:n.*1048G>A | |
| ENST00000637730.1:c.1224G>A (ABHD14A-ACY1) | ||
| ENST00000637778.1:c.*1439G>A (ABHD14A-ACY1) | ENSP00000490052.1:n.*1439G>A | |
| ENST00000637978.1:c.1260G>A (ABHD14A-ACY1) | ||
| ENST00000638096.1:n.582G>A (ACY1) | ||
| ENST00000638136.1:n.1107G>A (ACY1) | ||
| ENST00000404366.6:c.691G>A (ACY1) | ENSP00000384296.2:p.Glu231Lys | |
| ENST00000463721.5:c.*602G>A (ABHD14A-ACY1) | ENSP00000417688.1:n.*602G>A | |
| ENST00000463937.1:c.994G>A (ABHD14A-ACY1) | ENSP00000420487.1:p.Glu332Lys | |
| ENST00000464587.1:n.377G>A (ACY1) | ||
| ENST00000465121.5:n.764G>A (ACY1) | ||
| ENST00000476351.5:c.586G>A (ACY1) | ENSP00000417056.1:p.Glu196Lys | |
| ENST00000476854.5:c.657+119G>A (ACY1) | ENSP00000419262.1:n.657+119G>A | |
| ENST00000491318.5:c.584-129G>A (ACY1) | ENSP00000418683.1:n.584-129G>A | |
| ENST00000494103.5:c.475G>A (ACY1) | ENSP00000417618.1:p.Glu159Lys | |
| NM_000666.2:c.691G>A (ACY1) | NP_000657.1:p.Glu231Lys | |
| NM_001198895.1:c.691G>A (ACY1) | NP_001185824.1:p.Glu231Lys | |
| NM_001198896.1:c.475G>A (ACY1) | NP_001185825.1:p.Glu159Lys | |
| NM_001198897.1:c.657+119G>A (ACY1) | NP_001185826.1:n.657+119G>A | |
| NM_001198898.1:c.586G>A (ACY1) | NP_001185827.1:p.Glu196Lys | |
| NM_001316331.1:c.961G>A (ABHD14A-ACY1) | NP_001303260.1:p.Glu321Lys | |
| NM_000666.3:c.691G>A (ACY1) MANE Select | NP_000657.1:p.Glu231Lys | |
| NM_001198895.2:c.691G>A (ACY1) | NP_001185824.1:p.Glu231Lys | |
| NM_001198896.2:c.475G>A (ACY1) | NP_001185825.1:p.Glu159Lys | |
| NM_001198897.2:c.657+119G>A (ACY1) | NP_001185826.1:n.657+119G>A | |
| NM_001198898.2:c.586G>A (ACY1) | NP_001185827.1:p.Glu196Lys | |
| NM_001316331.2:c.961G>A (ABHD14A-ACY1) | NP_001303260.1:p.Glu321Lys |