Canonical Allele Identifier: CA353091120

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021209A>T (hg19) ; chr3:g.51987193A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987193A>T , CM000665.2:g.51987193A>T	GRCh38
NC_000003.11:g.52021209A>T , CM000665.1:g.52021209A>T	GRCh37
NC_000003.10:g.51996249A>T	NCBI36
NG_012036.1:g.8647A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.704A>T (ACY1)	ENSP00000384296.2:p.Gln235Leu
ENST00000464587.2:n.390A>T (ACY1)
ENST00000635785.1:c.887+132A>T (ABHD14A-ACY1)
ENST00000635797.1:c.599A>T (ACY1)	ENSP00000490007.1:p.Gln200Leu
ENST00000635937.1:c.*961A>T (ABHD14A-ACY1)	ENSP00000489887.1:n.*961A>T
ENST00000635941.1:c.978A>T (ACY1)	ENSP00000490309.1:n.978A>T
ENST00000635946.1:c.*1061A>T (ABHD14A-ACY1)	ENSP00000490284.1:n.*1061A>T
ENST00000635951.1:c.*976A>T (ABHD14A-ACY1)	ENSP00000490649.1:n.*976A>T
ENST00000635952.1:c.791A>T (ABHD14A-ACY1)	ENSP00000490434.1:p.Gln264Leu
ENST00000636089.1:c.*1041A>T (ABHD14A-ACY1)	ENSP00000490657.1:n.*1041A>T
ENST00000636358.2:c.704A>T (ACY1) MANE Select	ENSP00000490149.1:p.Gln235Leu
ENST00000636490.1:c.*1041A>T (ABHD14A-ACY1)	ENSP00000490575.1:n.*1041A>T
ENST00000636556.1:c.*649A>T (ACY1)	ENSP00000490500.1:n.*649A>T
ENST00000636646.1:c.*941A>T (ABHD14A-ACY1)	ENSP00000490688.1:n.*941A>T
ENST00000636660.1:c.667A>T (ABHD14A-ACY1)
ENST00000636718.1:c.*1316A>T (ABHD14A-ACY1)	ENSP00000490429.1:n.*1316A>T
ENST00000636826.1:c.*635A>T (ABHD14A-ACY1)	ENSP00000489721.1:n.*635A>T
ENST00000636880.1:c.*414A>T (ACY1)	ENSP00000489947.1:n.*414A>T
ENST00000636942.1:c.*585A>T (ABHD14A-ACY1)	ENSP00000490848.1:n.*585A>T
ENST00000637025.1:c.*825A>T (ABHD14A-ACY1)	ENSP00000490236.1:n.*825A>T
ENST00000637034.1:n.137A>T (ACY1)
ENST00000637130.1:c.*925A>T (ABHD14A-ACY1)	ENSP00000490887.1:n.*925A>T
ENST00000637199.1:n.177A>T (ACY1)
ENST00000637222.1:c.704A>T (ABHD14A-ACY1)	ENSP00000490353.1:p.Gln235Leu
ENST00000637349.1:c.*220+132A>T (ACY1)	ENSP00000489688.1:n.*220+132A>T
ENST00000637460.1:n.738A>T (ACY1)
ENST00000637512.1:c.954A>T (ABHD14A-ACY1)
ENST00000637563.1:c.*1452A>T (ABHD14A-ACY1)	ENSP00000490319.1:n.*1452A>T
ENST00000637696.1:c.*1061A>T (ABHD14A-ACY1)	ENSP00000490554.1:n.*1061A>T
ENST00000637730.1:c.1237A>T (ABHD14A-ACY1)
ENST00000637778.1:c.*1452A>T (ABHD14A-ACY1)	ENSP00000490052.1:n.*1452A>T
ENST00000637978.1:c.1273A>T (ABHD14A-ACY1)
ENST00000638096.1:n.595A>T (ACY1)
ENST00000638136.1:n.1120A>T (ACY1)
ENST00000404366.6:c.704A>T (ACY1)	ENSP00000384296.2:p.Gln235Leu
ENST00000463721.5:c.*615A>T (ABHD14A-ACY1)	ENSP00000417688.1:n.*615A>T
ENST00000463937.1:c.1007A>T (ABHD14A-ACY1)	ENSP00000420487.1:p.Gln336Leu
ENST00000464587.1:n.390A>T (ACY1)
ENST00000465121.5:n.777A>T (ACY1)
ENST00000476351.5:c.599A>T (ACY1)	ENSP00000417056.1:p.Gln200Leu
ENST00000476854.5:c.657+132A>T (ACY1)	ENSP00000419262.1:n.657+132A>T
ENST00000491318.5:c.584-116A>T (ACY1)	ENSP00000418683.1:n.584-116A>T
ENST00000494103.5:c.488A>T (ACY1)	ENSP00000417618.1:p.Gln163Leu
NM_000666.2:c.704A>T (ACY1)	NP_000657.1:p.Gln235Leu
NM_001198895.1:c.704A>T (ACY1)	NP_001185824.1:p.Gln235Leu
NM_001198896.1:c.488A>T (ACY1)	NP_001185825.1:p.Gln163Leu
NM_001198897.1:c.657+132A>T (ACY1)	NP_001185826.1:n.657+132A>T
NM_001198898.1:c.599A>T (ACY1)	NP_001185827.1:p.Gln200Leu
NM_001316331.1:c.974A>T (ABHD14A-ACY1)	NP_001303260.1:p.Gln325Leu
NM_000666.3:c.704A>T (ACY1) MANE Select	NP_000657.1:p.Gln235Leu
NM_001198895.2:c.704A>T (ACY1)	NP_001185824.1:p.Gln235Leu
NM_001198896.2:c.488A>T (ACY1)	NP_001185825.1:p.Gln163Leu
NM_001198897.2:c.657+132A>T (ACY1)	NP_001185826.1:n.657+132A>T
NM_001198898.2:c.599A>T (ACY1)	NP_001185827.1:p.Gln200Leu
NM_001316331.2:c.974A>T (ABHD14A-ACY1)	NP_001303260.1:p.Gln325Leu