Canonical Allele Identifier: CA353090874

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021173T>A (hg19) ; chr3:g.51987157T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987157T>A , CM000665.2:g.51987157T>A	GRCh38
NC_000003.11:g.52021173T>A , CM000665.1:g.52021173T>A	GRCh37
NC_000003.10:g.51996213T>A	NCBI36
NG_012036.1:g.8611T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.668T>A (ACY1)	ENSP00000384296.2:p.Val223Glu
ENST00000464587.2:n.354T>A (ACY1)
ENST00000486081.6:c.*514T>A (ABHD14A-ACY1)	ENSP00000420395.1:n.*514T>A
ENST00000635785.1:c.887+96T>A (ABHD14A-ACY1)
ENST00000635797.1:c.563T>A (ACY1)	ENSP00000490007.1:p.Val188Glu
ENST00000635937.1:c.*925T>A (ABHD14A-ACY1)	ENSP00000489887.1:n.*925T>A
ENST00000635941.1:c.942T>A (ACY1)	ENSP00000490309.1:n.942T>A
ENST00000635946.1:c.*1025T>A (ABHD14A-ACY1)	ENSP00000490284.1:n.*1025T>A
ENST00000635951.1:c.*940T>A (ABHD14A-ACY1)	ENSP00000490649.1:n.*940T>A
ENST00000635952.1:c.755T>A (ABHD14A-ACY1)	ENSP00000490434.1:p.Val252Glu
ENST00000636085.1:c.*599T>A (ABHD14A-ACY1)	ENSP00000489981.1:n.*599T>A
ENST00000636089.1:c.*1005T>A (ABHD14A-ACY1)	ENSP00000490657.1:n.*1005T>A
ENST00000636358.2:c.668T>A (ACY1) MANE Select	ENSP00000490149.1:p.Val223Glu
ENST00000636490.1:c.*1005T>A (ABHD14A-ACY1)	ENSP00000490575.1:n.*1005T>A
ENST00000636556.1:c.*613T>A (ACY1)	ENSP00000490500.1:n.*613T>A
ENST00000636646.1:c.*905T>A (ABHD14A-ACY1)	ENSP00000490688.1:n.*905T>A
ENST00000636660.1:c.631T>A (ABHD14A-ACY1)
ENST00000636718.1:c.*1280T>A (ABHD14A-ACY1)	ENSP00000490429.1:n.*1280T>A
ENST00000636826.1:c.*599T>A (ABHD14A-ACY1)	ENSP00000489721.1:n.*599T>A
ENST00000636880.1:c.*378T>A (ACY1)	ENSP00000489947.1:n.*378T>A
ENST00000636942.1:c.*549T>A (ABHD14A-ACY1)	ENSP00000490848.1:n.*549T>A
ENST00000637025.1:c.*789T>A (ABHD14A-ACY1)	ENSP00000490236.1:n.*789T>A
ENST00000637034.1:n.101T>A (ACY1)
ENST00000637130.1:c.*889T>A (ABHD14A-ACY1)	ENSP00000490887.1:n.*889T>A
ENST00000637199.1:n.141T>A (ACY1)
ENST00000637222.1:c.668T>A (ABHD14A-ACY1)	ENSP00000490353.1:p.Val223Glu
ENST00000637349.1:c.*220+96T>A (ACY1)	ENSP00000489688.1:n.*220+96T>A
ENST00000637460.1:n.702T>A (ACY1)
ENST00000637512.1:c.918T>A (ABHD14A-ACY1)
ENST00000637563.1:c.*1416T>A (ABHD14A-ACY1)	ENSP00000490319.1:n.*1416T>A
ENST00000637696.1:c.*1025T>A (ABHD14A-ACY1)	ENSP00000490554.1:n.*1025T>A
ENST00000637730.1:c.1201T>A (ABHD14A-ACY1)
ENST00000637778.1:c.*1416T>A (ABHD14A-ACY1)	ENSP00000490052.1:n.*1416T>A
ENST00000637978.1:c.1237T>A (ABHD14A-ACY1)
ENST00000638096.1:n.559T>A (ACY1)
ENST00000638136.1:n.1084T>A (ACY1)
ENST00000404366.6:c.668T>A (ACY1)	ENSP00000384296.2:p.Val223Glu
ENST00000463721.5:c.*579T>A (ABHD14A-ACY1)	ENSP00000417688.1:n.*579T>A
ENST00000463937.1:c.971T>A (ABHD14A-ACY1)	ENSP00000420487.1:p.Val324Glu
ENST00000464587.1:n.354T>A (ACY1)
ENST00000465121.5:n.741T>A (ACY1)
ENST00000476351.5:c.563T>A (ACY1)	ENSP00000417056.1:p.Val188Glu
ENST00000476854.5:c.657+96T>A (ACY1)	ENSP00000419262.1:n.657+96T>A
ENST00000491318.5:c.584-152T>A (ACY1)	ENSP00000418683.1:n.584-152T>A
ENST00000494103.5:c.452T>A (ACY1)	ENSP00000417618.1:p.Val151Glu
NM_000666.2:c.668T>A (ACY1)	NP_000657.1:p.Val223Glu
NM_001198895.1:c.668T>A (ACY1)	NP_001185824.1:p.Val223Glu
NM_001198896.1:c.452T>A (ACY1)	NP_001185825.1:p.Val151Glu
NM_001198897.1:c.657+96T>A (ACY1)	NP_001185826.1:n.657+96T>A
NM_001198898.1:c.563T>A (ACY1)	NP_001185827.1:p.Val188Glu
NM_001316331.1:c.938T>A (ABHD14A-ACY1)	NP_001303260.1:p.Val313Glu
NM_000666.3:c.668T>A (ACY1) MANE Select	NP_000657.1:p.Val223Glu
NM_001198895.2:c.668T>A (ACY1)	NP_001185824.1:p.Val223Glu
NM_001198896.2:c.452T>A (ACY1)	NP_001185825.1:p.Val151Glu
NM_001198897.2:c.657+96T>A (ACY1)	NP_001185826.1:n.657+96T>A
NM_001198898.2:c.563T>A (ACY1)	NP_001185827.1:p.Val188Glu
NM_001316331.2:c.938T>A (ABHD14A-ACY1)	NP_001303260.1:p.Val313Glu