Canonical Allele Identifier: CA433748889
Gene: ACY1 HGNC NCBI
ABHD14A-ACY1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.52021047C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51987031C>A , CM000665.2:g.51987031C>A GRCh38
NC_000003.11:g.52021047C>A , CM000665.1:g.52021047C>A GRCh37
NC_000003.10:g.51996087C>A NCBI36
NG_012036.1:g.8485C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000404366.7:c.627C>A (ACY1) ENSP00000384296.2:p.Arg209=
ENST00000464587.2:n.313C>A (ACY1)
ENST00000486081.6:c.*473C>A (ABHD14A-ACY1) ENSP00000420395.1:n.*473C>A
ENST00000635785.1:c.857C>A (ABHD14A-ACY1)
ENST00000635797.1:c.522C>A (ACY1) ENSP00000490007.1:p.Arg174=
ENST00000635937.1:c.*799C>A (ABHD14A-ACY1) ENSP00000489887.1:n.*799C>A
ENST00000635941.1:c.816C>A (ACY1) ENSP00000490309.1:n.816C>A
ENST00000635946.1:c.*899C>A (ABHD14A-ACY1) ENSP00000490284.1:n.*899C>A
ENST00000635951.1:c.*899C>A (ABHD14A-ACY1) ENSP00000490649.1:n.*899C>A
ENST00000635952.1:c.714C>A (ABHD14A-ACY1) ENSP00000490434.1:p.Arg238=
ENST00000636085.1:c.*473C>A (ABHD14A-ACY1) ENSP00000489981.1:n.*473C>A
ENST00000636089.1:c.*964C>A (ABHD14A-ACY1) ENSP00000490657.1:n.*964C>A
ENST00000636358.2:c.627C>A (ACY1) MANE Select ENSP00000490149.1:p.Arg209=
ENST00000636490.1:c.*964C>A (ABHD14A-ACY1) ENSP00000490575.1:n.*964C>A
ENST00000636556.1:c.*572C>A (ACY1) ENSP00000490500.1:n.*572C>A
ENST00000636646.1:c.*864C>A (ABHD14A-ACY1) ENSP00000490688.1:n.*864C>A
ENST00000636660.1:c.505C>A (ABHD14A-ACY1)
ENST00000636718.1:c.*1154C>A (ABHD14A-ACY1) ENSP00000490429.1:n.*1154C>A
ENST00000636826.1:c.*473C>A (ABHD14A-ACY1) ENSP00000489721.1:n.*473C>A
ENST00000636880.1:c.*337C>A (ACY1) ENSP00000489947.1:n.*337C>A
ENST00000636942.1:c.*508C>A (ABHD14A-ACY1) ENSP00000490848.1:n.*508C>A
ENST00000637025.1:c.*663C>A (ABHD14A-ACY1) ENSP00000490236.1:n.*663C>A
ENST00000637130.1:c.*763C>A (ABHD14A-ACY1) ENSP00000490887.1:n.*763C>A
ENST00000637199.1:n.100C>A (ACY1)
ENST00000637209.1:c.*337C>A (ACY1) ENSP00000490708.1:n.*337C>A
ENST00000637222.1:c.627C>A (ABHD14A-ACY1) ENSP00000490353.1:p.Arg209=
ENST00000637251.1:n.1700C>A (ACY1)
ENST00000637349.1:c.*190C>A (ACY1) ENSP00000489688.1:n.*190C>A
ENST00000637460.1:n.661C>A (ACY1)
ENST00000637461.1:c.474C>A (ABHD14A-ACY1)
ENST00000637512.1:c.792C>A (ABHD14A-ACY1)
ENST00000637563.1:c.*1290C>A (ABHD14A-ACY1) ENSP00000490319.1:n.*1290C>A
ENST00000637696.1:c.*899C>A (ABHD14A-ACY1) ENSP00000490554.1:n.*899C>A
ENST00000637730.1:c.1160C>A (ABHD14A-ACY1)
ENST00000637778.1:c.*1290C>A (ABHD14A-ACY1) ENSP00000490052.1:n.*1290C>A
ENST00000637978.1:c.1196C>A (ABHD14A-ACY1)
ENST00000638096.1:n.433C>A (ACY1)
ENST00000638136.1:n.958C>A (ACY1)
ENST00000404366.6:c.627C>A (ACY1) ENSP00000384296.2:p.Arg209=
ENST00000463721.5:c.*538C>A (ABHD14A-ACY1) ENSP00000417688.1:n.*538C>A
ENST00000463937.1:c.930C>A (ABHD14A-ACY1) ENSP00000420487.1:p.Arg310=
ENST00000464587.1:n.313C>A (ACY1)
ENST00000465121.5:n.700C>A (ACY1)
ENST00000469863.1:c.654C>A (ACY1) ENSP00000419830.1:p.Arg218=
ENST00000476351.5:c.522C>A (ACY1) ENSP00000417056.1:p.Arg174=
ENST00000476854.5:c.627C>A (ACY1) ENSP00000419262.1:p.Arg209=
ENST00000491318.5:c.584-278C>A (ACY1) ENSP00000418683.1:n.584-278C>A
ENST00000494103.5:c.411C>A (ACY1) ENSP00000417618.1:p.Arg137=
NM_000666.2:c.627C>A (ACY1) NP_000657.1:p.Arg209=
NM_001198895.1:c.627C>A (ACY1) NP_001185824.1:p.Arg209=
NM_001198896.1:c.411C>A (ACY1) NP_001185825.1:p.Arg137=
NM_001198897.1:c.627C>A (ACY1) NP_001185826.1:p.Arg209=
NM_001198898.1:c.522C>A (ACY1) NP_001185827.1:p.Arg174=
NM_001316331.1:c.897C>A (ABHD14A-ACY1) NP_001303260.1:p.Arg299=
NM_000666.3:c.627C>A (ACY1) MANE Select NP_000657.1:p.Arg209=
NM_001198895.2:c.627C>A (ACY1) NP_001185824.1:p.Arg209=
NM_001198896.2:c.411C>A (ACY1) NP_001185825.1:p.Arg137=
NM_001198897.2:c.627C>A (ACY1) NP_001185826.1:p.Arg209=
NM_001198898.2:c.522C>A (ACY1) NP_001185827.1:p.Arg174=
NM_001316331.2:c.897C>A (ABHD14A-ACY1) NP_001303260.1:p.Arg299=