Canonical Allele Identifier: CA353090359

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021028G>T (hg19) ; chr3:g.51987012G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987012G>T , CM000665.2:g.51987012G>T	GRCh38
NC_000003.11:g.52021028G>T , CM000665.1:g.52021028G>T	GRCh37
NC_000003.10:g.51996068G>T	NCBI36
NG_012036.1:g.8466G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.608G>T (ACY1)	ENSP00000384296.2:p.Arg203Met
ENST00000464587.2:n.294G>T (ACY1)
ENST00000486081.6:c.*454G>T (ABHD14A-ACY1)	ENSP00000420395.1:n.*454G>T
ENST00000635785.1:c.838G>T (ABHD14A-ACY1)
ENST00000635797.1:c.503G>T (ACY1)	ENSP00000490007.1:p.Arg168Met
ENST00000635937.1:c.*780G>T (ABHD14A-ACY1)	ENSP00000489887.1:n.*780G>T
ENST00000635941.1:c.797G>T (ACY1)	ENSP00000490309.1:n.797G>T
ENST00000635946.1:c.*880G>T (ABHD14A-ACY1)	ENSP00000490284.1:n.*880G>T
ENST00000635951.1:c.*880G>T (ABHD14A-ACY1)	ENSP00000490649.1:n.*880G>T
ENST00000635952.1:c.695G>T (ABHD14A-ACY1)	ENSP00000490434.1:p.Arg232Met
ENST00000636085.1:c.*454G>T (ABHD14A-ACY1)	ENSP00000489981.1:n.*454G>T
ENST00000636089.1:c.*945G>T (ABHD14A-ACY1)	ENSP00000490657.1:n.*945G>T
ENST00000636358.2:c.608G>T (ACY1) MANE Select	ENSP00000490149.1:p.Arg203Met
ENST00000636490.1:c.*945G>T (ABHD14A-ACY1)	ENSP00000490575.1:n.*945G>T
ENST00000636556.1:c.*553G>T (ACY1)	ENSP00000490500.1:n.*553G>T
ENST00000636646.1:c.*845G>T (ABHD14A-ACY1)	ENSP00000490688.1:n.*845G>T
ENST00000636660.1:c.486G>T (ABHD14A-ACY1)
ENST00000636718.1:c.*1135G>T (ABHD14A-ACY1)	ENSP00000490429.1:n.*1135G>T
ENST00000636826.1:c.*454G>T (ABHD14A-ACY1)	ENSP00000489721.1:n.*454G>T
ENST00000636880.1:c.*318G>T (ACY1)	ENSP00000489947.1:n.*318G>T
ENST00000636942.1:c.*489G>T (ABHD14A-ACY1)	ENSP00000490848.1:n.*489G>T
ENST00000637025.1:c.*644G>T (ABHD14A-ACY1)	ENSP00000490236.1:n.*644G>T
ENST00000637130.1:c.*744G>T (ABHD14A-ACY1)	ENSP00000490887.1:n.*744G>T
ENST00000637199.1:n.81G>T (ACY1)
ENST00000637209.1:c.*318G>T (ACY1)	ENSP00000490708.1:n.*318G>T
ENST00000637222.1:c.608G>T (ABHD14A-ACY1)	ENSP00000490353.1:p.Arg203Met
ENST00000637251.1:n.1681G>T (ACY1)
ENST00000637349.1:c.*171G>T (ACY1)	ENSP00000489688.1:n.*171G>T
ENST00000637460.1:n.642G>T (ACY1)
ENST00000637461.1:c.455G>T (ABHD14A-ACY1)
ENST00000637512.1:c.773G>T (ABHD14A-ACY1)
ENST00000637563.1:c.*1271G>T (ABHD14A-ACY1)	ENSP00000490319.1:n.*1271G>T
ENST00000637696.1:c.*880G>T (ABHD14A-ACY1)	ENSP00000490554.1:n.*880G>T
ENST00000637730.1:c.1141G>T (ABHD14A-ACY1)
ENST00000637778.1:c.*1271G>T (ABHD14A-ACY1)	ENSP00000490052.1:n.*1271G>T
ENST00000637978.1:c.1177G>T (ABHD14A-ACY1)
ENST00000638096.1:n.414G>T (ACY1)
ENST00000638136.1:n.939G>T (ACY1)
ENST00000404366.6:c.608G>T (ACY1)	ENSP00000384296.2:p.Arg203Met
ENST00000463721.5:c.*519G>T (ABHD14A-ACY1)	ENSP00000417688.1:n.*519G>T
ENST00000463937.1:c.911G>T (ABHD14A-ACY1)	ENSP00000420487.1:p.Arg304Met
ENST00000464587.1:n.294G>T (ACY1)
ENST00000465121.5:n.681G>T (ACY1)
ENST00000469863.1:c.635G>T (ACY1)	ENSP00000419830.1:p.Arg212Met
ENST00000476351.5:c.503G>T (ACY1)	ENSP00000417056.1:p.Arg168Met
ENST00000476854.5:c.608G>T (ACY1)	ENSP00000419262.1:p.Arg203Met
ENST00000491318.5:c.584-297G>T (ACY1)	ENSP00000418683.1:n.584-297G>T
ENST00000494103.5:c.392G>T (ACY1)	ENSP00000417618.1:p.Arg131Met
NM_000666.2:c.608G>T (ACY1)	NP_000657.1:p.Arg203Met
NM_001198895.1:c.608G>T (ACY1)	NP_001185824.1:p.Arg203Met
NM_001198896.1:c.392G>T (ACY1)	NP_001185825.1:p.Arg131Met
NM_001198897.1:c.608G>T (ACY1)	NP_001185826.1:p.Arg203Met
NM_001198898.1:c.503G>T (ACY1)	NP_001185827.1:p.Arg168Met
NM_001316331.1:c.878G>T (ABHD14A-ACY1)	NP_001303260.1:p.Arg293Met
NM_000666.3:c.608G>T (ACY1) MANE Select	NP_000657.1:p.Arg203Met
NM_001198895.2:c.608G>T (ACY1)	NP_001185824.1:p.Arg203Met
NM_001198896.2:c.392G>T (ACY1)	NP_001185825.1:p.Arg131Met
NM_001198897.2:c.608G>T (ACY1)	NP_001185826.1:p.Arg203Met
NM_001198898.2:c.503G>T (ACY1)	NP_001185827.1:p.Arg168Met
NM_001316331.2:c.878G>T (ABHD14A-ACY1)	NP_001303260.1:p.Arg293Met