Canonical Allele Identifier: CA353091088

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021203A>T (hg19) ; chr3:g.51987187A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987187A>T , CM000665.2:g.51987187A>T	GRCh38
NC_000003.11:g.52021203A>T , CM000665.1:g.52021203A>T	GRCh37
NC_000003.10:g.51996243A>T	NCBI36
NG_012036.1:g.8641A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.698A>T (ACY1)	ENSP00000384296.2:p.Glu233Val
ENST00000464587.2:n.384A>T (ACY1)
ENST00000486081.6:c.*544A>T (ABHD14A-ACY1)	ENSP00000420395.1:n.*544A>T
ENST00000635785.1:c.887+126A>T (ABHD14A-ACY1)
ENST00000635797.1:c.593A>T (ACY1)	ENSP00000490007.1:p.Glu198Val
ENST00000635937.1:c.*955A>T (ABHD14A-ACY1)	ENSP00000489887.1:n.*955A>T
ENST00000635941.1:c.972A>T (ACY1)	ENSP00000490309.1:n.972A>T
ENST00000635946.1:c.*1055A>T (ABHD14A-ACY1)	ENSP00000490284.1:n.*1055A>T
ENST00000635951.1:c.*970A>T (ABHD14A-ACY1)	ENSP00000490649.1:n.*970A>T
ENST00000635952.1:c.785A>T (ABHD14A-ACY1)	ENSP00000490434.1:p.Glu262Val
ENST00000636089.1:c.*1035A>T (ABHD14A-ACY1)	ENSP00000490657.1:n.*1035A>T
ENST00000636358.2:c.698A>T (ACY1) MANE Select	ENSP00000490149.1:p.Glu233Val
ENST00000636490.1:c.*1035A>T (ABHD14A-ACY1)	ENSP00000490575.1:n.*1035A>T
ENST00000636556.1:c.*643A>T (ACY1)	ENSP00000490500.1:n.*643A>T
ENST00000636646.1:c.*935A>T (ABHD14A-ACY1)	ENSP00000490688.1:n.*935A>T
ENST00000636660.1:c.661A>T (ABHD14A-ACY1)
ENST00000636718.1:c.*1310A>T (ABHD14A-ACY1)	ENSP00000490429.1:n.*1310A>T
ENST00000636826.1:c.*629A>T (ABHD14A-ACY1)	ENSP00000489721.1:n.*629A>T
ENST00000636880.1:c.*408A>T (ACY1)	ENSP00000489947.1:n.*408A>T
ENST00000636942.1:c.*579A>T (ABHD14A-ACY1)	ENSP00000490848.1:n.*579A>T
ENST00000637025.1:c.*819A>T (ABHD14A-ACY1)	ENSP00000490236.1:n.*819A>T
ENST00000637034.1:n.131A>T (ACY1)
ENST00000637130.1:c.*919A>T (ABHD14A-ACY1)	ENSP00000490887.1:n.*919A>T
ENST00000637199.1:n.171A>T (ACY1)
ENST00000637222.1:c.698A>T (ABHD14A-ACY1)	ENSP00000490353.1:p.Glu233Val
ENST00000637349.1:c.*220+126A>T (ACY1)	ENSP00000489688.1:n.*220+126A>T
ENST00000637460.1:n.732A>T (ACY1)
ENST00000637512.1:c.948A>T (ABHD14A-ACY1)
ENST00000637563.1:c.*1446A>T (ABHD14A-ACY1)	ENSP00000490319.1:n.*1446A>T
ENST00000637696.1:c.*1055A>T (ABHD14A-ACY1)	ENSP00000490554.1:n.*1055A>T
ENST00000637730.1:c.1231A>T (ABHD14A-ACY1)
ENST00000637778.1:c.*1446A>T (ABHD14A-ACY1)	ENSP00000490052.1:n.*1446A>T
ENST00000637978.1:c.1267A>T (ABHD14A-ACY1)
ENST00000638096.1:n.589A>T (ACY1)
ENST00000638136.1:n.1114A>T (ACY1)
ENST00000404366.6:c.698A>T (ACY1)	ENSP00000384296.2:p.Glu233Val
ENST00000463721.5:c.*609A>T (ABHD14A-ACY1)	ENSP00000417688.1:n.*609A>T
ENST00000463937.1:c.1001A>T (ABHD14A-ACY1)	ENSP00000420487.1:p.Glu334Val
ENST00000464587.1:n.384A>T (ACY1)
ENST00000465121.5:n.771A>T (ACY1)
ENST00000476351.5:c.593A>T (ACY1)	ENSP00000417056.1:p.Glu198Val
ENST00000476854.5:c.657+126A>T (ACY1)	ENSP00000419262.1:n.657+126A>T
ENST00000491318.5:c.584-122A>T (ACY1)	ENSP00000418683.1:n.584-122A>T
ENST00000494103.5:c.482A>T (ACY1)	ENSP00000417618.1:p.Glu161Val
NM_000666.2:c.698A>T (ACY1)	NP_000657.1:p.Glu233Val
NM_001198895.1:c.698A>T (ACY1)	NP_001185824.1:p.Glu233Val
NM_001198896.1:c.482A>T (ACY1)	NP_001185825.1:p.Glu161Val
NM_001198897.1:c.657+126A>T (ACY1)	NP_001185826.1:n.657+126A>T
NM_001198898.1:c.593A>T (ACY1)	NP_001185827.1:p.Glu198Val
NM_001316331.1:c.968A>T (ABHD14A-ACY1)	NP_001303260.1:p.Glu323Val
NM_000666.3:c.698A>T (ACY1) MANE Select	NP_000657.1:p.Glu233Val
NM_001198895.2:c.698A>T (ACY1)	NP_001185824.1:p.Glu233Val
NM_001198896.2:c.482A>T (ACY1)	NP_001185825.1:p.Glu161Val
NM_001198897.2:c.657+126A>T (ACY1)	NP_001185826.1:n.657+126A>T
NM_001198898.2:c.593A>T (ACY1)	NP_001185827.1:p.Glu198Val
NM_001316331.2:c.968A>T (ABHD14A-ACY1)	NP_001303260.1:p.Glu323Val