Canonical Allele Identifier: CA353091112

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021208C>A (hg19) ; chr3:g.51987192C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987192C>A , CM000665.2:g.51987192C>A	GRCh38
NC_000003.11:g.52021208C>A , CM000665.1:g.52021208C>A	GRCh37
NC_000003.10:g.51996248C>A	NCBI36
NG_012036.1:g.8646C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.703C>A (ACY1)	ENSP00000384296.2:p.Gln235Lys
ENST00000464587.2:n.389C>A (ACY1)
ENST00000635785.1:c.887+131C>A (ABHD14A-ACY1)
ENST00000635797.1:c.598C>A (ACY1)	ENSP00000490007.1:p.Gln200Lys
ENST00000635937.1:c.*960C>A (ABHD14A-ACY1)	ENSP00000489887.1:n.*960C>A
ENST00000635941.1:c.977C>A (ACY1)	ENSP00000490309.1:n.977C>A
ENST00000635946.1:c.*1060C>A (ABHD14A-ACY1)	ENSP00000490284.1:n.*1060C>A
ENST00000635951.1:c.*975C>A (ABHD14A-ACY1)	ENSP00000490649.1:n.*975C>A
ENST00000635952.1:c.790C>A (ABHD14A-ACY1)	ENSP00000490434.1:p.Gln264Lys
ENST00000636089.1:c.*1040C>A (ABHD14A-ACY1)	ENSP00000490657.1:n.*1040C>A
ENST00000636358.2:c.703C>A (ACY1) MANE Select	ENSP00000490149.1:p.Gln235Lys
ENST00000636490.1:c.*1040C>A (ABHD14A-ACY1)	ENSP00000490575.1:n.*1040C>A
ENST00000636556.1:c.*648C>A (ACY1)	ENSP00000490500.1:n.*648C>A
ENST00000636646.1:c.*940C>A (ABHD14A-ACY1)	ENSP00000490688.1:n.*940C>A
ENST00000636660.1:c.666C>A (ABHD14A-ACY1)
ENST00000636718.1:c.*1315C>A (ABHD14A-ACY1)	ENSP00000490429.1:n.*1315C>A
ENST00000636826.1:c.*634C>A (ABHD14A-ACY1)	ENSP00000489721.1:n.*634C>A
ENST00000636880.1:c.*413C>A (ACY1)	ENSP00000489947.1:n.*413C>A
ENST00000636942.1:c.*584C>A (ABHD14A-ACY1)	ENSP00000490848.1:n.*584C>A
ENST00000637025.1:c.*824C>A (ABHD14A-ACY1)	ENSP00000490236.1:n.*824C>A
ENST00000637034.1:n.136C>A (ACY1)
ENST00000637130.1:c.*924C>A (ABHD14A-ACY1)	ENSP00000490887.1:n.*924C>A
ENST00000637199.1:n.176C>A (ACY1)
ENST00000637222.1:c.703C>A (ABHD14A-ACY1)	ENSP00000490353.1:p.Gln235Lys
ENST00000637349.1:c.*220+131C>A (ACY1)	ENSP00000489688.1:n.*220+131C>A
ENST00000637460.1:n.737C>A (ACY1)
ENST00000637512.1:c.953C>A (ABHD14A-ACY1)
ENST00000637563.1:c.*1451C>A (ABHD14A-ACY1)	ENSP00000490319.1:n.*1451C>A
ENST00000637696.1:c.*1060C>A (ABHD14A-ACY1)	ENSP00000490554.1:n.*1060C>A
ENST00000637730.1:c.1236C>A (ABHD14A-ACY1)
ENST00000637778.1:c.*1451C>A (ABHD14A-ACY1)	ENSP00000490052.1:n.*1451C>A
ENST00000637978.1:c.1272C>A (ABHD14A-ACY1)
ENST00000638096.1:n.594C>A (ACY1)
ENST00000638136.1:n.1119C>A (ACY1)
ENST00000404366.6:c.703C>A (ACY1)	ENSP00000384296.2:p.Gln235Lys
ENST00000463721.5:c.*614C>A (ABHD14A-ACY1)	ENSP00000417688.1:n.*614C>A
ENST00000463937.1:c.1006C>A (ABHD14A-ACY1)	ENSP00000420487.1:p.Gln336Lys
ENST00000464587.1:n.389C>A (ACY1)
ENST00000465121.5:n.776C>A (ACY1)
ENST00000476351.5:c.598C>A (ACY1)	ENSP00000417056.1:p.Gln200Lys
ENST00000476854.5:c.657+131C>A (ACY1)	ENSP00000419262.1:n.657+131C>A
ENST00000491318.5:c.584-117C>A (ACY1)	ENSP00000418683.1:n.584-117C>A
ENST00000494103.5:c.487C>A (ACY1)	ENSP00000417618.1:p.Gln163Lys
NM_000666.2:c.703C>A (ACY1)	NP_000657.1:p.Gln235Lys
NM_001198895.1:c.703C>A (ACY1)	NP_001185824.1:p.Gln235Lys
NM_001198896.1:c.487C>A (ACY1)	NP_001185825.1:p.Gln163Lys
NM_001198897.1:c.657+131C>A (ACY1)	NP_001185826.1:n.657+131C>A
NM_001198898.1:c.598C>A (ACY1)	NP_001185827.1:p.Gln200Lys
NM_001316331.1:c.973C>A (ABHD14A-ACY1)	NP_001303260.1:p.Gln325Lys
NM_000666.3:c.703C>A (ACY1) MANE Select	NP_000657.1:p.Gln235Lys
NM_001198895.2:c.703C>A (ACY1)	NP_001185824.1:p.Gln235Lys
NM_001198896.2:c.487C>A (ACY1)	NP_001185825.1:p.Gln163Lys
NM_001198897.2:c.657+131C>A (ACY1)	NP_001185826.1:n.657+131C>A
NM_001198898.2:c.598C>A (ACY1)	NP_001185827.1:p.Gln200Lys
NM_001316331.2:c.973C>A (ABHD14A-ACY1)	NP_001303260.1:p.Gln325Lys