Canonical Allele Identifier: CA353090286

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021012G>C (hg19) ; chr3:g.51986996G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51986996G>C , CM000665.2:g.51986996G>C	GRCh38
NC_000003.11:g.52021012G>C , CM000665.1:g.52021012G>C	GRCh37
NC_000003.10:g.51996052G>C	NCBI36
NG_012036.1:g.8450G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.592G>C (ACY1)	ENSP00000384296.2:p.Val198Leu
ENST00000464587.2:n.278G>C (ACY1)
ENST00000486081.6:c.*438G>C (ABHD14A-ACY1)	ENSP00000420395.1:n.*438G>C
ENST00000635785.1:c.822G>C (ABHD14A-ACY1)
ENST00000635797.1:c.487G>C (ACY1)	ENSP00000490007.1:p.Val163Leu
ENST00000635937.1:c.*764G>C (ABHD14A-ACY1)	ENSP00000489887.1:n.*764G>C
ENST00000635941.1:c.781G>C (ACY1)	ENSP00000490309.1:n.781G>C
ENST00000635946.1:c.*864G>C (ABHD14A-ACY1)	ENSP00000490284.1:n.*864G>C
ENST00000635951.1:c.*864G>C (ABHD14A-ACY1)	ENSP00000490649.1:n.*864G>C
ENST00000635952.1:c.679G>C (ABHD14A-ACY1)	ENSP00000490434.1:p.Val227Leu
ENST00000636085.1:c.*438G>C (ABHD14A-ACY1)	ENSP00000489981.1:n.*438G>C
ENST00000636089.1:c.*929G>C (ABHD14A-ACY1)	ENSP00000490657.1:n.*929G>C
ENST00000636358.2:c.592G>C (ACY1) MANE Select	ENSP00000490149.1:p.Val198Leu
ENST00000636490.1:c.*929G>C (ABHD14A-ACY1)	ENSP00000490575.1:n.*929G>C
ENST00000636556.1:c.*537G>C (ACY1)	ENSP00000490500.1:n.*537G>C
ENST00000636646.1:c.*829G>C (ABHD14A-ACY1)	ENSP00000490688.1:n.*829G>C
ENST00000636660.1:c.470G>C (ABHD14A-ACY1)
ENST00000636718.1:c.*1119G>C (ABHD14A-ACY1)	ENSP00000490429.1:n.*1119G>C
ENST00000636826.1:c.*438G>C (ABHD14A-ACY1)	ENSP00000489721.1:n.*438G>C
ENST00000636880.1:c.*302G>C (ACY1)	ENSP00000489947.1:n.*302G>C
ENST00000636942.1:c.*473G>C (ABHD14A-ACY1)	ENSP00000490848.1:n.*473G>C
ENST00000637025.1:c.*628G>C (ABHD14A-ACY1)	ENSP00000490236.1:n.*628G>C
ENST00000637130.1:c.*728G>C (ABHD14A-ACY1)	ENSP00000490887.1:n.*728G>C
ENST00000637199.1:n.65G>C (ACY1)
ENST00000637209.1:c.*302G>C (ACY1)	ENSP00000490708.1:n.*302G>C
ENST00000637222.1:c.592G>C (ABHD14A-ACY1)	ENSP00000490353.1:p.Val198Leu
ENST00000637251.1:n.1665G>C (ACY1)
ENST00000637349.1:c.*155G>C (ACY1)	ENSP00000489688.1:n.*155G>C
ENST00000637460.1:n.626G>C (ACY1)
ENST00000637461.1:c.439G>C (ABHD14A-ACY1)
ENST00000637512.1:c.757G>C (ABHD14A-ACY1)
ENST00000637563.1:c.*1255G>C (ABHD14A-ACY1)	ENSP00000490319.1:n.*1255G>C
ENST00000637696.1:c.*864G>C (ABHD14A-ACY1)	ENSP00000490554.1:n.*864G>C
ENST00000637730.1:c.1125G>C (ABHD14A-ACY1)
ENST00000637778.1:c.*1255G>C (ABHD14A-ACY1)	ENSP00000490052.1:n.*1255G>C
ENST00000637978.1:c.1161G>C (ABHD14A-ACY1)
ENST00000638096.1:n.398G>C (ACY1)
ENST00000638136.1:n.923G>C (ACY1)
ENST00000404366.6:c.592G>C (ACY1)	ENSP00000384296.2:p.Val198Leu
ENST00000463721.5:c.*503G>C (ABHD14A-ACY1)	ENSP00000417688.1:n.*503G>C
ENST00000463937.1:c.895G>C (ABHD14A-ACY1)	ENSP00000420487.1:p.Val299Leu
ENST00000464587.1:n.278G>C (ACY1)
ENST00000465121.5:n.665G>C (ACY1)
ENST00000469863.1:c.619G>C (ACY1)	ENSP00000419830.1:p.Val207Leu
ENST00000476351.5:c.487G>C (ACY1)	ENSP00000417056.1:p.Val163Leu
ENST00000476854.5:c.592G>C (ACY1)	ENSP00000419262.1:p.Val198Leu
ENST00000491318.5:c.584-313G>C (ACY1)	ENSP00000418683.1:n.584-313G>C
ENST00000494103.5:c.376G>C (ACY1)	ENSP00000417618.1:p.Val126Leu
NM_000666.2:c.592G>C (ACY1)	NP_000657.1:p.Val198Leu
NM_001198895.1:c.592G>C (ACY1)	NP_001185824.1:p.Val198Leu
NM_001198896.1:c.376G>C (ACY1)	NP_001185825.1:p.Val126Leu
NM_001198897.1:c.592G>C (ACY1)	NP_001185826.1:p.Val198Leu
NM_001198898.1:c.487G>C (ACY1)	NP_001185827.1:p.Val163Leu
NM_001316331.1:c.862G>C (ABHD14A-ACY1)	NP_001303260.1:p.Val288Leu
NM_000666.3:c.592G>C (ACY1) MANE Select	NP_000657.1:p.Val198Leu
NM_001198895.2:c.592G>C (ACY1)	NP_001185824.1:p.Val198Leu
NM_001198896.2:c.376G>C (ACY1)	NP_001185825.1:p.Val126Leu
NM_001198897.2:c.592G>C (ACY1)	NP_001185826.1:p.Val198Leu
NM_001198898.2:c.487G>C (ACY1)	NP_001185827.1:p.Val163Leu
NM_001316331.2:c.862G>C (ABHD14A-ACY1)	NP_001303260.1:p.Val288Leu