Canonical Allele Identifier: CA353090941
Gene: ACY1 HGNC NCBI
ABHD14A-ACY1 HGNC NCBI

Linked Data

dbSNP Id: rs1464624939
gnomAD v2: 3-52021182-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51987166T>C , CM000665.2:g.51987166T>C GRCh38
NC_000003.11:g.52021182T>C , CM000665.1:g.52021182T>C GRCh37
NC_000003.10:g.51996222T>C NCBI36
NG_012036.1:g.8620T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000404366.7:c.677T>C (ACY1) ENSP00000384296.2:p.Ile226Thr
ENST00000464587.2:n.363T>C (ACY1)
ENST00000486081.6:c.*523T>C (ABHD14A-ACY1) ENSP00000420395.1:n.*523T>C
ENST00000635785.1:c.887+105T>C (ABHD14A-ACY1)
ENST00000635797.1:c.572T>C (ACY1) ENSP00000490007.1:p.Ile191Thr
ENST00000635937.1:c.*934T>C (ABHD14A-ACY1) ENSP00000489887.1:n.*934T>C
ENST00000635941.1:c.951T>C (ACY1) ENSP00000490309.1:n.951T>C
ENST00000635946.1:c.*1034T>C (ABHD14A-ACY1) ENSP00000490284.1:n.*1034T>C
ENST00000635951.1:c.*949T>C (ABHD14A-ACY1) ENSP00000490649.1:n.*949T>C
ENST00000635952.1:c.764T>C (ABHD14A-ACY1) ENSP00000490434.1:p.Ile255Thr
ENST00000636085.1:c.*608T>C (ABHD14A-ACY1) ENSP00000489981.1:n.*608T>C
ENST00000636089.1:c.*1014T>C (ABHD14A-ACY1) ENSP00000490657.1:n.*1014T>C
ENST00000636358.2:c.677T>C (ACY1) MANE Select ENSP00000490149.1:p.Ile226Thr
ENST00000636490.1:c.*1014T>C (ABHD14A-ACY1) ENSP00000490575.1:n.*1014T>C
ENST00000636556.1:c.*622T>C (ACY1) ENSP00000490500.1:n.*622T>C
ENST00000636646.1:c.*914T>C (ABHD14A-ACY1) ENSP00000490688.1:n.*914T>C
ENST00000636660.1:c.640T>C (ABHD14A-ACY1)
ENST00000636718.1:c.*1289T>C (ABHD14A-ACY1) ENSP00000490429.1:n.*1289T>C
ENST00000636826.1:c.*608T>C (ABHD14A-ACY1) ENSP00000489721.1:n.*608T>C
ENST00000636880.1:c.*387T>C (ACY1) ENSP00000489947.1:n.*387T>C
ENST00000636942.1:c.*558T>C (ABHD14A-ACY1) ENSP00000490848.1:n.*558T>C
ENST00000637025.1:c.*798T>C (ABHD14A-ACY1) ENSP00000490236.1:n.*798T>C
ENST00000637034.1:n.110T>C (ACY1)
ENST00000637130.1:c.*898T>C (ABHD14A-ACY1) ENSP00000490887.1:n.*898T>C
ENST00000637199.1:n.150T>C (ACY1)
ENST00000637222.1:c.677T>C (ABHD14A-ACY1) ENSP00000490353.1:p.Ile226Thr
ENST00000637349.1:c.*220+105T>C (ACY1) ENSP00000489688.1:n.*220+105T>C
ENST00000637460.1:n.711T>C (ACY1)
ENST00000637512.1:c.927T>C (ABHD14A-ACY1)
ENST00000637563.1:c.*1425T>C (ABHD14A-ACY1) ENSP00000490319.1:n.*1425T>C
ENST00000637696.1:c.*1034T>C (ABHD14A-ACY1) ENSP00000490554.1:n.*1034T>C
ENST00000637730.1:c.1210T>C (ABHD14A-ACY1)
ENST00000637778.1:c.*1425T>C (ABHD14A-ACY1) ENSP00000490052.1:n.*1425T>C
ENST00000637978.1:c.1246T>C (ABHD14A-ACY1)
ENST00000638096.1:n.568T>C (ACY1)
ENST00000638136.1:n.1093T>C (ACY1)
ENST00000404366.6:c.677T>C (ACY1) ENSP00000384296.2:p.Ile226Thr
ENST00000463721.5:c.*588T>C (ABHD14A-ACY1) ENSP00000417688.1:n.*588T>C
ENST00000463937.1:c.980T>C (ABHD14A-ACY1) ENSP00000420487.1:p.Ile327Thr
ENST00000464587.1:n.363T>C (ACY1)
ENST00000465121.5:n.750T>C (ACY1)
ENST00000476351.5:c.572T>C (ACY1) ENSP00000417056.1:p.Ile191Thr
ENST00000476854.5:c.657+105T>C (ACY1) ENSP00000419262.1:n.657+105T>C
ENST00000491318.5:c.584-143T>C (ACY1) ENSP00000418683.1:n.584-143T>C
ENST00000494103.5:c.461T>C (ACY1) ENSP00000417618.1:p.Ile154Thr
NM_000666.2:c.677T>C (ACY1) NP_000657.1:p.Ile226Thr
NM_001198895.1:c.677T>C (ACY1) NP_001185824.1:p.Ile226Thr
NM_001198896.1:c.461T>C (ACY1) NP_001185825.1:p.Ile154Thr
NM_001198897.1:c.657+105T>C (ACY1) NP_001185826.1:n.657+105T>C
NM_001198898.1:c.572T>C (ACY1) NP_001185827.1:p.Ile191Thr
NM_001316331.1:c.947T>C (ABHD14A-ACY1) NP_001303260.1:p.Ile316Thr
NM_000666.3:c.677T>C (ACY1) MANE Select NP_000657.1:p.Ile226Thr
NM_001198895.2:c.677T>C (ACY1) NP_001185824.1:p.Ile226Thr
NM_001198896.2:c.461T>C (ACY1) NP_001185825.1:p.Ile154Thr
NM_001198897.2:c.657+105T>C (ACY1) NP_001185826.1:n.657+105T>C
NM_001198898.2:c.572T>C (ACY1) NP_001185827.1:p.Ile191Thr
NM_001316331.2:c.947T>C (ABHD14A-ACY1) NP_001303260.1:p.Ile316Thr