Canonical Allele Identifier: CA433748936
Gene: ACY1 HGNC NCBI
ABHD14A-ACY1 HGNC NCBI

Linked Data

gnomAD v4: 3-51987188-A-G
MyVariant Identifiers: chr3:g.52021204A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51987188A>G , CM000665.2:g.51987188A>G GRCh38
NC_000003.11:g.52021204A>G , CM000665.1:g.52021204A>G GRCh37
NC_000003.10:g.51996244A>G NCBI36
NG_012036.1:g.8642A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000404366.7:c.699A>G (ACY1) ENSP00000384296.2:p.Glu233=
ENST00000464587.2:n.385A>G (ACY1)
ENST00000486081.6:c.*545A>G (ABHD14A-ACY1) ENSP00000420395.1:n.*545A>G
ENST00000635785.1:c.887+127A>G (ABHD14A-ACY1)
ENST00000635797.1:c.594A>G (ACY1) ENSP00000490007.1:p.Glu198=
ENST00000635937.1:c.*956A>G (ABHD14A-ACY1) ENSP00000489887.1:n.*956A>G
ENST00000635941.1:c.973A>G (ACY1) ENSP00000490309.1:n.973A>G
ENST00000635946.1:c.*1056A>G (ABHD14A-ACY1) ENSP00000490284.1:n.*1056A>G
ENST00000635951.1:c.*971A>G (ABHD14A-ACY1) ENSP00000490649.1:n.*971A>G
ENST00000635952.1:c.786A>G (ABHD14A-ACY1) ENSP00000490434.1:p.Glu262=
ENST00000636089.1:c.*1036A>G (ABHD14A-ACY1) ENSP00000490657.1:n.*1036A>G
ENST00000636358.2:c.699A>G (ACY1) MANE Select ENSP00000490149.1:p.Glu233=
ENST00000636490.1:c.*1036A>G (ABHD14A-ACY1) ENSP00000490575.1:n.*1036A>G
ENST00000636556.1:c.*644A>G (ACY1) ENSP00000490500.1:n.*644A>G
ENST00000636646.1:c.*936A>G (ABHD14A-ACY1) ENSP00000490688.1:n.*936A>G
ENST00000636660.1:c.662A>G (ABHD14A-ACY1)
ENST00000636718.1:c.*1311A>G (ABHD14A-ACY1) ENSP00000490429.1:n.*1311A>G
ENST00000636826.1:c.*630A>G (ABHD14A-ACY1) ENSP00000489721.1:n.*630A>G
ENST00000636880.1:c.*409A>G (ACY1) ENSP00000489947.1:n.*409A>G
ENST00000636942.1:c.*580A>G (ABHD14A-ACY1) ENSP00000490848.1:n.*580A>G
ENST00000637025.1:c.*820A>G (ABHD14A-ACY1) ENSP00000490236.1:n.*820A>G
ENST00000637034.1:n.132A>G (ACY1)
ENST00000637130.1:c.*920A>G (ABHD14A-ACY1) ENSP00000490887.1:n.*920A>G
ENST00000637199.1:n.172A>G (ACY1)
ENST00000637222.1:c.699A>G (ABHD14A-ACY1) ENSP00000490353.1:p.Glu233=
ENST00000637349.1:c.*220+127A>G (ACY1) ENSP00000489688.1:n.*220+127A>G
ENST00000637460.1:n.733A>G (ACY1)
ENST00000637512.1:c.949A>G (ABHD14A-ACY1)
ENST00000637563.1:c.*1447A>G (ABHD14A-ACY1) ENSP00000490319.1:n.*1447A>G
ENST00000637696.1:c.*1056A>G (ABHD14A-ACY1) ENSP00000490554.1:n.*1056A>G
ENST00000637730.1:c.1232A>G (ABHD14A-ACY1)
ENST00000637778.1:c.*1447A>G (ABHD14A-ACY1) ENSP00000490052.1:n.*1447A>G
ENST00000637978.1:c.1268A>G (ABHD14A-ACY1)
ENST00000638096.1:n.590A>G (ACY1)
ENST00000638136.1:n.1115A>G (ACY1)
ENST00000404366.6:c.699A>G (ACY1) ENSP00000384296.2:p.Glu233=
ENST00000463721.5:c.*610A>G (ABHD14A-ACY1) ENSP00000417688.1:n.*610A>G
ENST00000463937.1:c.1002A>G (ABHD14A-ACY1) ENSP00000420487.1:p.Glu334=
ENST00000464587.1:n.385A>G (ACY1)
ENST00000465121.5:n.772A>G (ACY1)
ENST00000476351.5:c.594A>G (ACY1) ENSP00000417056.1:p.Glu198=
ENST00000476854.5:c.657+127A>G (ACY1) ENSP00000419262.1:n.657+127A>G
ENST00000491318.5:c.584-121A>G (ACY1) ENSP00000418683.1:n.584-121A>G
ENST00000494103.5:c.483A>G (ACY1) ENSP00000417618.1:p.Glu161=
NM_000666.2:c.699A>G (ACY1) NP_000657.1:p.Glu233=
NM_001198895.1:c.699A>G (ACY1) NP_001185824.1:p.Glu233=
NM_001198896.1:c.483A>G (ACY1) NP_001185825.1:p.Glu161=
NM_001198897.1:c.657+127A>G (ACY1) NP_001185826.1:n.657+127A>G
NM_001198898.1:c.594A>G (ACY1) NP_001185827.1:p.Glu198=
NM_001316331.1:c.969A>G (ABHD14A-ACY1) NP_001303260.1:p.Glu323=
NM_000666.3:c.699A>G (ACY1) MANE Select NP_000657.1:p.Glu233=
NM_001198895.2:c.699A>G (ACY1) NP_001185824.1:p.Glu233=
NM_001198896.2:c.483A>G (ACY1) NP_001185825.1:p.Glu161=
NM_001198897.2:c.657+127A>G (ACY1) NP_001185826.1:n.657+127A>G
NM_001198898.2:c.594A>G (ACY1) NP_001185827.1:p.Glu198=
NM_001316331.2:c.969A>G (ABHD14A-ACY1) NP_001303260.1:p.Glu323=