Canonical Allele Identifier: CA433748938

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021211A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987195A>C , CM000665.2:g.51987195A>C	GRCh38
NC_000003.11:g.52021211A>C , CM000665.1:g.52021211A>C	GRCh37
NC_000003.10:g.51996251A>C	NCBI36
NG_012036.1:g.8649A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.706A>C (ACY1)	ENSP00000384296.2:p.Arg236=
ENST00000464587.2:n.392A>C (ACY1)
ENST00000635785.1:c.887+134A>C (ABHD14A-ACY1)
ENST00000635797.1:c.601A>C (ACY1)	ENSP00000490007.1:p.Arg201=
ENST00000635937.1:c.*963A>C (ABHD14A-ACY1)	ENSP00000489887.1:n.*963A>C
ENST00000635941.1:c.980A>C (ACY1)	ENSP00000490309.1:n.980A>C
ENST00000635946.1:c.*1063A>C (ABHD14A-ACY1)	ENSP00000490284.1:n.*1063A>C
ENST00000635951.1:c.*978A>C (ABHD14A-ACY1)	ENSP00000490649.1:n.*978A>C
ENST00000635952.1:c.793A>C (ABHD14A-ACY1)
ENST00000636089.1:c.*1043A>C (ABHD14A-ACY1)	ENSP00000490657.1:n.*1043A>C
ENST00000636358.2:c.706A>C (ACY1) MANE Select	ENSP00000490149.1:p.Arg236=
ENST00000636490.1:c.*1043A>C (ABHD14A-ACY1)	ENSP00000490575.1:n.*1043A>C
ENST00000636556.1:c.*651A>C (ACY1)	ENSP00000490500.1:n.*651A>C
ENST00000636646.1:c.*943A>C (ABHD14A-ACY1)	ENSP00000490688.1:n.*943A>C
ENST00000636660.1:c.669A>C (ABHD14A-ACY1)
ENST00000636718.1:c.*1318A>C (ABHD14A-ACY1)	ENSP00000490429.1:n.*1318A>C
ENST00000636826.1:c.*637A>C (ABHD14A-ACY1)	ENSP00000489721.1:n.*637A>C
ENST00000636880.1:c.*416A>C (ACY1)	ENSP00000489947.1:n.*416A>C
ENST00000636942.1:c.*587A>C (ABHD14A-ACY1)	ENSP00000490848.1:n.*587A>C
ENST00000637025.1:c.*827A>C (ABHD14A-ACY1)	ENSP00000490236.1:n.*827A>C
ENST00000637034.1:n.139A>C (ACY1)
ENST00000637130.1:c.*927A>C (ABHD14A-ACY1)	ENSP00000490887.1:n.*927A>C
ENST00000637199.1:n.179A>C (ACY1)
ENST00000637222.1:c.706A>C (ABHD14A-ACY1)	ENSP00000490353.1:p.Arg236=
ENST00000637349.1:c.*220+134A>C (ACY1)	ENSP00000489688.1:n.*220+134A>C
ENST00000637460.1:n.740A>C (ACY1)
ENST00000637512.1:c.956A>C (ABHD14A-ACY1)
ENST00000637563.1:c.*1454A>C (ABHD14A-ACY1)	ENSP00000490319.1:n.*1454A>C
ENST00000637696.1:c.*1063A>C (ABHD14A-ACY1)	ENSP00000490554.1:n.*1063A>C
ENST00000637730.1:c.1239A>C (ABHD14A-ACY1)
ENST00000637778.1:c.*1454A>C (ABHD14A-ACY1)	ENSP00000490052.1:n.*1454A>C
ENST00000637978.1:c.1275A>C (ABHD14A-ACY1)
ENST00000638096.1:n.597A>C (ACY1)
ENST00000638136.1:n.1122A>C (ACY1)
ENST00000404366.6:c.706A>C (ACY1)	ENSP00000384296.2:p.Arg236=
ENST00000463721.5:c.*617A>C (ABHD14A-ACY1)	ENSP00000417688.1:n.*617A>C
ENST00000463937.1:c.1009A>C (ABHD14A-ACY1)	ENSP00000420487.1:p.Arg337=
ENST00000464587.1:n.392A>C (ACY1)
ENST00000465121.5:n.779A>C (ACY1)
ENST00000476351.5:c.601A>C (ACY1)	ENSP00000417056.1:p.Arg201=
ENST00000476854.5:c.657+134A>C (ACY1)	ENSP00000419262.1:n.657+134A>C
ENST00000491318.5:c.584-114A>C (ACY1)	ENSP00000418683.1:n.584-114A>C
ENST00000494103.5:c.490A>C (ACY1)	ENSP00000417618.1:p.Arg164=
NM_000666.2:c.706A>C (ACY1)	NP_000657.1:p.Arg236=
NM_001198895.1:c.706A>C (ACY1)	NP_001185824.1:p.Arg236=
NM_001198896.1:c.490A>C (ACY1)	NP_001185825.1:p.Arg164=
NM_001198897.1:c.657+134A>C (ACY1)	NP_001185826.1:n.657+134A>C
NM_001198898.1:c.601A>C (ACY1)	NP_001185827.1:p.Arg201=
NM_001316331.1:c.976A>C (ABHD14A-ACY1)	NP_001303260.1:p.Arg326=
NM_000666.3:c.706A>C (ACY1) MANE Select	NP_000657.1:p.Arg236=
NM_001198895.2:c.706A>C (ACY1)	NP_001185824.1:p.Arg236=
NM_001198896.2:c.490A>C (ACY1)	NP_001185825.1:p.Arg164=
NM_001198897.2:c.657+134A>C (ACY1)	NP_001185826.1:n.657+134A>C
NM_001198898.2:c.601A>C (ACY1)	NP_001185827.1:p.Arg201=
NM_001316331.2:c.976A>C (ABHD14A-ACY1)	NP_001303260.1:p.Arg326=