Linked Data
ClinVar Variation Id:
18114
dbSNP Id:
rs121912701
ExAC:
3:52023042 G / A
gnomAD v2:
3-52023042-G-A
gnomAD v3:
3-51989026-G-A
gnomAD v4:
3-51989026-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.51989026G>A , CM000665.2:g.51989026G>A | GRCh38 |
| NC_000003.11:g.52023042G>A , CM000665.1:g.52023042G>A | GRCh37 |
| NC_000003.10:g.51998082G>A | NCBI36 |
| NG_012036.1:g.10480G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000404366.7:c.1178G>A (ACY1) | ENSP00000384296.2:p.Arg393His | |
| ENST00000490244.2:n.641G>A (ACY1) | ||
| ENST00000635797.1:c.1073G>A (ACY1) | ENSP00000490007.1:p.Arg358His | |
| ENST00000635937.1:c.*2446G>A (ABHD14A-ACY1) | ENSP00000489887.1:n.*2446G>A | |
| ENST00000635941.1:c.1564G>A (ACY1) | ENSP00000490309.1:n.1564G>A | |
| ENST00000635946.1:c.*1749G>A (ABHD14A-ACY1) | ENSP00000490284.1:n.*1749G>A | |
| ENST00000635951.1:c.*1450G>A (ABHD14A-ACY1) | ENSP00000490649.1:n.*1450G>A | |
| ENST00000636089.1:c.*1515G>A (ABHD14A-ACY1) | ENSP00000490657.1:n.*1515G>A | |
| ENST00000636358.2:c.1178G>A (ACY1) MANE Select | ENSP00000490149.1:p.Arg393His | |
| ENST00000636490.1:c.*2414G>A (ABHD14A-ACY1) | ENSP00000490575.1:n.*2414G>A | |
| ENST00000636646.1:c.*1415G>A (ABHD14A-ACY1) | ENSP00000490688.1:n.*1415G>A | |
| ENST00000636718.1:c.*1790G>A (ABHD14A-ACY1) | ENSP00000490429.1:n.*1790G>A | |
| ENST00000636826.1:c.*2222G>A (ABHD14A-ACY1) | ENSP00000489721.1:n.*2222G>A | |
| ENST00000636880.1:c.*888G>A (ACY1) | ENSP00000489947.1:n.*888G>A | |
| ENST00000636942.1:c.*1059G>A (ABHD14A-ACY1) | ENSP00000490848.1:n.*1059G>A | |
| ENST00000637025.1:c.*2412G>A (ABHD14A-ACY1) | ENSP00000490236.1:n.*2412G>A | |
| ENST00000637034.1:n.611G>A (ACY1) | ||
| ENST00000637130.1:c.*2410G>A (ABHD14A-ACY1) | ENSP00000490887.1:n.*2410G>A | |
| ENST00000637149.1:c.269G>A (ACY1) | ||
| ENST00000637199.1:n.651G>A (ACY1) | ||
| ENST00000637512.1:c.1428G>A (ABHD14A-ACY1) | ||
| ENST00000637563.1:c.*2038G>A (ABHD14A-ACY1) | ENSP00000490319.1:n.*2038G>A | |
| ENST00000637696.1:c.*1647G>A (ABHD14A-ACY1) | ENSP00000490554.1:n.*1647G>A | |
| ENST00000637730.1:c.2610G>A (ABHD14A-ACY1) | ||
| ENST00000637746.1:n.551G>A (ACY1) | ||
| ENST00000637778.1:c.*2937G>A (ABHD14A-ACY1) | ENSP00000490052.1:n.*2937G>A | |
| ENST00000637978.1:c.1747G>A (ABHD14A-ACY1) | ||
| ENST00000638077.1:n.308G>A (ACY1) | ||
| ENST00000638136.1:n.1706G>A (ACY1) | ||
| ENST00000404366.6:c.1178G>A (ACY1) | ENSP00000384296.2:p.Arg393His | |
| ENST00000463721.5:c.*1089G>A (ABHD14A-ACY1) | ENSP00000417688.1:n.*1089G>A | |
| ENST00000463937.1:c.1481G>A (ABHD14A-ACY1) | ENSP00000420487.1:p.Arg494His | |
| ENST00000476351.5:c.1073G>A (ACY1) | ENSP00000417056.1:p.Arg358His | |
| ENST00000476854.5:c.983G>A (ACY1) | ENSP00000419262.1:p.Arg328His | |
| ENST00000491318.5:c.*448G>A (ACY1) | ENSP00000418683.1:n.*448G>A | |
| ENST00000494103.5:c.962G>A (ACY1) | ENSP00000417618.1:p.Arg321His | |
| NM_000666.2:c.1178G>A (ACY1) | NP_000657.1:p.Arg393His | |
| NM_001198895.1:c.1178G>A (ACY1) | NP_001185824.1:p.Arg393His | |
| NM_001198896.1:c.962G>A (ACY1) | NP_001185825.1:p.Arg321His | |
| NM_001198897.1:c.983G>A (ACY1) | NP_001185826.1:p.Arg328His | |
| NM_001198898.1:c.1073G>A (ACY1) | NP_001185827.1:p.Arg358His | |
| NM_001316331.1:c.1448G>A (ABHD14A-ACY1) | NP_001303260.1:p.Arg483His | |
| NM_000666.3:c.1178G>A (ACY1) MANE Select | NP_000657.1:p.Arg393His | |
| NM_001198895.2:c.1178G>A (ACY1) | NP_001185824.1:p.Arg393His | |
| NM_001198896.2:c.962G>A (ACY1) | NP_001185825.1:p.Arg321His | |
| NM_001198897.2:c.983G>A (ACY1) | NP_001185826.1:p.Arg328His | |
| NM_001198898.2:c.1073G>A (ACY1) | NP_001185827.1:p.Arg358His | |
| NM_001316331.2:c.1448G>A (ABHD14A-ACY1) | NP_001303260.1:p.Arg483His |