Linked Data
dbSNP Id:
rs371320332
ExAC:
3:52021187 G / A
gnomAD v2:
3-52021187-G-A
gnomAD v3:
3-51987171-G-A
gnomAD v4:
3-51987171-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.51987171G>A , CM000665.2:g.51987171G>A | GRCh38 |
| NC_000003.11:g.52021187G>A , CM000665.1:g.52021187G>A | GRCh37 |
| NC_000003.10:g.51996227G>A | NCBI36 |
| NG_012036.1:g.8625G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404366.7:c.682G>A (ACY1) | ENSP00000384296.2:p.Ala228Thr | |
| ENST00000464587.2:n.368G>A (ACY1) | ||
| ENST00000486081.6:c.*528G>A (ABHD14A-ACY1) | ENSP00000420395.1:n.*528G>A | |
| ENST00000635785.1:c.887+110G>A (ABHD14A-ACY1) | ||
| ENST00000635797.1:c.577G>A (ACY1) | ENSP00000490007.1:p.Ala193Thr | |
| ENST00000635937.1:c.*939G>A (ABHD14A-ACY1) | ENSP00000489887.1:n.*939G>A | |
| ENST00000635941.1:c.956G>A (ACY1) | ENSP00000490309.1:n.956G>A | |
| ENST00000635946.1:c.*1039G>A (ABHD14A-ACY1) | ENSP00000490284.1:n.*1039G>A | |
| ENST00000635951.1:c.*954G>A (ABHD14A-ACY1) | ENSP00000490649.1:n.*954G>A | |
| ENST00000635952.1:c.769G>A (ABHD14A-ACY1) | ENSP00000490434.1:p.Ala257Thr | |
| ENST00000636085.1:c.*613G>A (ABHD14A-ACY1) | ENSP00000489981.1:n.*613G>A | |
| ENST00000636089.1:c.*1019G>A (ABHD14A-ACY1) | ENSP00000490657.1:n.*1019G>A | |
| ENST00000636358.2:c.682G>A (ACY1) MANE Select | ENSP00000490149.1:p.Ala228Thr | |
| ENST00000636490.1:c.*1019G>A (ABHD14A-ACY1) | ENSP00000490575.1:n.*1019G>A | |
| ENST00000636556.1:c.*627G>A (ACY1) | ENSP00000490500.1:n.*627G>A | |
| ENST00000636646.1:c.*919G>A (ABHD14A-ACY1) | ENSP00000490688.1:n.*919G>A | |
| ENST00000636660.1:c.645G>A (ABHD14A-ACY1) | ||
| ENST00000636718.1:c.*1294G>A (ABHD14A-ACY1) | ENSP00000490429.1:n.*1294G>A | |
| ENST00000636826.1:c.*613G>A (ABHD14A-ACY1) | ENSP00000489721.1:n.*613G>A | |
| ENST00000636880.1:c.*392G>A (ACY1) | ENSP00000489947.1:n.*392G>A | |
| ENST00000636942.1:c.*563G>A (ABHD14A-ACY1) | ENSP00000490848.1:n.*563G>A | |
| ENST00000637025.1:c.*803G>A (ABHD14A-ACY1) | ENSP00000490236.1:n.*803G>A | |
| ENST00000637034.1:n.115G>A (ACY1) | ||
| ENST00000637130.1:c.*903G>A (ABHD14A-ACY1) | ENSP00000490887.1:n.*903G>A | |
| ENST00000637199.1:n.155G>A (ACY1) | ||
| ENST00000637222.1:c.682G>A (ABHD14A-ACY1) | ENSP00000490353.1:p.Ala228Thr | |
| ENST00000637349.1:c.*220+110G>A (ACY1) | ENSP00000489688.1:n.*220+110G>A | |
| ENST00000637460.1:n.716G>A (ACY1) | ||
| ENST00000637512.1:c.932G>A (ABHD14A-ACY1) | ||
| ENST00000637563.1:c.*1430G>A (ABHD14A-ACY1) | ENSP00000490319.1:n.*1430G>A | |
| ENST00000637696.1:c.*1039G>A (ABHD14A-ACY1) | ENSP00000490554.1:n.*1039G>A | |
| ENST00000637730.1:c.1215G>A (ABHD14A-ACY1) | ||
| ENST00000637778.1:c.*1430G>A (ABHD14A-ACY1) | ENSP00000490052.1:n.*1430G>A | |
| ENST00000637978.1:c.1251G>A (ABHD14A-ACY1) | ||
| ENST00000638096.1:n.573G>A (ACY1) | ||
| ENST00000638136.1:n.1098G>A (ACY1) | ||
| ENST00000404366.6:c.682G>A (ACY1) | ENSP00000384296.2:p.Ala228Thr | |
| ENST00000463721.5:c.*593G>A (ABHD14A-ACY1) | ENSP00000417688.1:n.*593G>A | |
| ENST00000463937.1:c.985G>A (ABHD14A-ACY1) | ENSP00000420487.1:p.Ala329Thr | |
| ENST00000464587.1:n.368G>A (ACY1) | ||
| ENST00000465121.5:n.755G>A (ACY1) | ||
| ENST00000476351.5:c.577G>A (ACY1) | ENSP00000417056.1:p.Ala193Thr | |
| ENST00000476854.5:c.657+110G>A (ACY1) | ENSP00000419262.1:n.657+110G>A | |
| ENST00000491318.5:c.584-138G>A (ACY1) | ENSP00000418683.1:n.584-138G>A | |
| ENST00000494103.5:c.466G>A (ACY1) | ENSP00000417618.1:p.Ala156Thr | |
| NM_000666.2:c.682G>A (ACY1) | NP_000657.1:p.Ala228Thr | |
| NM_001198895.1:c.682G>A (ACY1) | NP_001185824.1:p.Ala228Thr | |
| NM_001198896.1:c.466G>A (ACY1) | NP_001185825.1:p.Ala156Thr | |
| NM_001198897.1:c.657+110G>A (ACY1) | NP_001185826.1:n.657+110G>A | |
| NM_001198898.1:c.577G>A (ACY1) | NP_001185827.1:p.Ala193Thr | |
| NM_001316331.1:c.952G>A (ABHD14A-ACY1) | NP_001303260.1:p.Ala318Thr | |
| NM_000666.3:c.682G>A (ACY1) MANE Select | NP_000657.1:p.Ala228Thr | |
| NM_001198895.2:c.682G>A (ACY1) | NP_001185824.1:p.Ala228Thr | |
| NM_001198896.2:c.466G>A (ACY1) | NP_001185825.1:p.Ala156Thr | |
| NM_001198897.2:c.657+110G>A (ACY1) | NP_001185826.1:n.657+110G>A | |
| NM_001198898.2:c.577G>A (ACY1) | NP_001185827.1:p.Ala193Thr | |
| NM_001316331.2:c.952G>A (ABHD14A-ACY1) | NP_001303260.1:p.Ala318Thr |