Canonical Allele Identifier: CA127828
Gene: ACY1 HGNC NCBI
ABHD14A-ACY1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18113
ClinVar RCV Id: RCV000019741
dbSNP Id: rs121912700
gnomAD v2: 3-52021009-C-T
gnomAD v3: 3-51986993-C-T
gnomAD v4: 3-51986993-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51986993C>T , CM000665.2:g.51986993C>T GRCh38
NC_000003.11:g.52021009C>T , CM000665.1:g.52021009C>T GRCh37
NC_000003.10:g.51996049C>T NCBI36
NG_012036.1:g.8447C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000404366.7:c.589C>T (ACY1) ENSP00000384296.2:p.Arg197Trp
ENST00000464587.2:n.275C>T (ACY1)
ENST00000486081.6:c.*435C>T (ABHD14A-ACY1) ENSP00000420395.1:n.*435C>T
ENST00000635785.1:c.819C>T (ABHD14A-ACY1)
ENST00000635797.1:c.484C>T (ACY1) ENSP00000490007.1:p.Arg162Trp
ENST00000635937.1:c.*761C>T (ABHD14A-ACY1) ENSP00000489887.1:n.*761C>T
ENST00000635941.1:c.778C>T (ACY1) ENSP00000490309.1:n.778C>T
ENST00000635946.1:c.*861C>T (ABHD14A-ACY1) ENSP00000490284.1:n.*861C>T
ENST00000635951.1:c.*861C>T (ABHD14A-ACY1) ENSP00000490649.1:n.*861C>T
ENST00000635952.1:c.676C>T (ABHD14A-ACY1) ENSP00000490434.1:p.Arg226Trp
ENST00000636085.1:c.*435C>T (ABHD14A-ACY1) ENSP00000489981.1:n.*435C>T
ENST00000636089.1:c.*926C>T (ABHD14A-ACY1) ENSP00000490657.1:n.*926C>T
ENST00000636358.2:c.589C>T (ACY1) MANE Select ENSP00000490149.1:p.Arg197Trp
ENST00000636490.1:c.*926C>T (ABHD14A-ACY1) ENSP00000490575.1:n.*926C>T
ENST00000636556.1:c.*534C>T (ACY1) ENSP00000490500.1:n.*534C>T
ENST00000636646.1:c.*826C>T (ABHD14A-ACY1) ENSP00000490688.1:n.*826C>T
ENST00000636660.1:c.467C>T (ABHD14A-ACY1)
ENST00000636718.1:c.*1116C>T (ABHD14A-ACY1) ENSP00000490429.1:n.*1116C>T
ENST00000636826.1:c.*435C>T (ABHD14A-ACY1) ENSP00000489721.1:n.*435C>T
ENST00000636880.1:c.*299C>T (ACY1) ENSP00000489947.1:n.*299C>T
ENST00000636942.1:c.*470C>T (ABHD14A-ACY1) ENSP00000490848.1:n.*470C>T
ENST00000637025.1:c.*625C>T (ABHD14A-ACY1) ENSP00000490236.1:n.*625C>T
ENST00000637130.1:c.*725C>T (ABHD14A-ACY1) ENSP00000490887.1:n.*725C>T
ENST00000637199.1:n.62C>T (ACY1)
ENST00000637209.1:c.*299C>T (ACY1) ENSP00000490708.1:n.*299C>T
ENST00000637222.1:c.589C>T (ABHD14A-ACY1) ENSP00000490353.1:p.Arg197Trp
ENST00000637251.1:n.1662C>T (ACY1)
ENST00000637349.1:c.*152C>T (ACY1) ENSP00000489688.1:n.*152C>T
ENST00000637460.1:n.623C>T (ACY1)
ENST00000637461.1:c.436C>T (ABHD14A-ACY1)
ENST00000637512.1:c.754C>T (ABHD14A-ACY1)
ENST00000637563.1:c.*1252C>T (ABHD14A-ACY1) ENSP00000490319.1:n.*1252C>T
ENST00000637696.1:c.*861C>T (ABHD14A-ACY1) ENSP00000490554.1:n.*861C>T
ENST00000637730.1:c.1122C>T (ABHD14A-ACY1)
ENST00000637778.1:c.*1252C>T (ABHD14A-ACY1) ENSP00000490052.1:n.*1252C>T
ENST00000637978.1:c.1158C>T (ABHD14A-ACY1)
ENST00000638096.1:n.395C>T (ACY1)
ENST00000638136.1:n.920C>T (ACY1)
ENST00000404366.6:c.589C>T (ACY1) ENSP00000384296.2:p.Arg197Trp
ENST00000463721.5:c.*500C>T (ABHD14A-ACY1) ENSP00000417688.1:n.*500C>T
ENST00000463937.1:c.892C>T (ABHD14A-ACY1) ENSP00000420487.1:p.Arg298Trp
ENST00000464587.1:n.275C>T (ACY1)
ENST00000465121.5:n.662C>T (ACY1)
ENST00000469863.1:c.616C>T (ACY1) ENSP00000419830.1:p.Arg206Trp
ENST00000476351.5:c.484C>T (ACY1) ENSP00000417056.1:p.Arg162Trp
ENST00000476854.5:c.589C>T (ACY1) ENSP00000419262.1:p.Arg197Trp
ENST00000491318.5:c.584-316C>T (ACY1) ENSP00000418683.1:n.584-316C>T
ENST00000494103.5:c.373C>T (ACY1) ENSP00000417618.1:p.Arg125Trp
NM_000666.2:c.589C>T (ACY1) NP_000657.1:p.Arg197Trp
NM_001198895.1:c.589C>T (ACY1) NP_001185824.1:p.Arg197Trp
NM_001198896.1:c.373C>T (ACY1) NP_001185825.1:p.Arg125Trp
NM_001198897.1:c.589C>T (ACY1) NP_001185826.1:p.Arg197Trp
NM_001198898.1:c.484C>T (ACY1) NP_001185827.1:p.Arg162Trp
NM_001316331.1:c.859C>T (ABHD14A-ACY1) NP_001303260.1:p.Arg287Trp
NM_000666.3:c.589C>T (ACY1) MANE Select NP_000657.1:p.Arg197Trp
NM_001198895.2:c.589C>T (ACY1) NP_001185824.1:p.Arg197Trp
NM_001198896.2:c.373C>T (ACY1) NP_001185825.1:p.Arg125Trp
NM_001198897.2:c.589C>T (ACY1) NP_001185826.1:p.Arg197Trp
NM_001198898.2:c.484C>T (ACY1) NP_001185827.1:p.Arg162Trp
NM_001316331.2:c.859C>T (ABHD14A-ACY1) NP_001303260.1:p.Arg287Trp