Canonical Allele Identifier: CA353090866

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021170T>C (hg19) ; chr3:g.51987154T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987154T>C , CM000665.2:g.51987154T>C	GRCh38
NC_000003.11:g.52021170T>C , CM000665.1:g.52021170T>C	GRCh37
NC_000003.10:g.51996210T>C	NCBI36
NG_012036.1:g.8608T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.665T>C (ACY1)	ENSP00000384296.2:p.Val222Ala
ENST00000464587.2:n.351T>C (ACY1)
ENST00000486081.6:c.*511T>C (ABHD14A-ACY1)	ENSP00000420395.1:n.*511T>C
ENST00000635785.1:c.887+93T>C (ABHD14A-ACY1)
ENST00000635797.1:c.560T>C (ACY1)	ENSP00000490007.1:p.Val187Ala
ENST00000635937.1:c.*922T>C (ABHD14A-ACY1)	ENSP00000489887.1:n.*922T>C
ENST00000635941.1:c.939T>C (ACY1)	ENSP00000490309.1:n.939T>C
ENST00000635946.1:c.*1022T>C (ABHD14A-ACY1)	ENSP00000490284.1:n.*1022T>C
ENST00000635951.1:c.*937T>C (ABHD14A-ACY1)	ENSP00000490649.1:n.*937T>C
ENST00000635952.1:c.752T>C (ABHD14A-ACY1)	ENSP00000490434.1:p.Val251Ala
ENST00000636085.1:c.*596T>C (ABHD14A-ACY1)	ENSP00000489981.1:n.*596T>C
ENST00000636089.1:c.*1002T>C (ABHD14A-ACY1)	ENSP00000490657.1:n.*1002T>C
ENST00000636358.2:c.665T>C (ACY1) MANE Select	ENSP00000490149.1:p.Val222Ala
ENST00000636490.1:c.*1002T>C (ABHD14A-ACY1)	ENSP00000490575.1:n.*1002T>C
ENST00000636556.1:c.*610T>C (ACY1)	ENSP00000490500.1:n.*610T>C
ENST00000636646.1:c.*902T>C (ABHD14A-ACY1)	ENSP00000490688.1:n.*902T>C
ENST00000636660.1:c.628T>C (ABHD14A-ACY1)
ENST00000636718.1:c.*1277T>C (ABHD14A-ACY1)	ENSP00000490429.1:n.*1277T>C
ENST00000636826.1:c.*596T>C (ABHD14A-ACY1)	ENSP00000489721.1:n.*596T>C
ENST00000636880.1:c.*375T>C (ACY1)	ENSP00000489947.1:n.*375T>C
ENST00000636942.1:c.*546T>C (ABHD14A-ACY1)	ENSP00000490848.1:n.*546T>C
ENST00000637025.1:c.*786T>C (ABHD14A-ACY1)	ENSP00000490236.1:n.*786T>C
ENST00000637034.1:n.98T>C (ACY1)
ENST00000637130.1:c.*886T>C (ABHD14A-ACY1)	ENSP00000490887.1:n.*886T>C
ENST00000637199.1:n.138T>C (ACY1)
ENST00000637222.1:c.665T>C (ABHD14A-ACY1)	ENSP00000490353.1:p.Val222Ala
ENST00000637349.1:c.*220+93T>C (ACY1)	ENSP00000489688.1:n.*220+93T>C
ENST00000637460.1:n.699T>C (ACY1)
ENST00000637512.1:c.915T>C (ABHD14A-ACY1)
ENST00000637563.1:c.*1413T>C (ABHD14A-ACY1)	ENSP00000490319.1:n.*1413T>C
ENST00000637696.1:c.*1022T>C (ABHD14A-ACY1)	ENSP00000490554.1:n.*1022T>C
ENST00000637730.1:c.1198T>C (ABHD14A-ACY1)
ENST00000637778.1:c.*1413T>C (ABHD14A-ACY1)	ENSP00000490052.1:n.*1413T>C
ENST00000637978.1:c.1234T>C (ABHD14A-ACY1)
ENST00000638096.1:n.556T>C (ACY1)
ENST00000638136.1:n.1081T>C (ACY1)
ENST00000404366.6:c.665T>C (ACY1)	ENSP00000384296.2:p.Val222Ala
ENST00000463721.5:c.*576T>C (ABHD14A-ACY1)	ENSP00000417688.1:n.*576T>C
ENST00000463937.1:c.968T>C (ABHD14A-ACY1)	ENSP00000420487.1:p.Val323Ala
ENST00000464587.1:n.351T>C (ACY1)
ENST00000465121.5:n.738T>C (ACY1)
ENST00000476351.5:c.560T>C (ACY1)	ENSP00000417056.1:p.Val187Ala
ENST00000476854.5:c.657+93T>C (ACY1)	ENSP00000419262.1:n.657+93T>C
ENST00000491318.5:c.584-155T>C (ACY1)	ENSP00000418683.1:n.584-155T>C
ENST00000494103.5:c.449T>C (ACY1)	ENSP00000417618.1:p.Val150Ala
NM_000666.2:c.665T>C (ACY1)	NP_000657.1:p.Val222Ala
NM_001198895.1:c.665T>C (ACY1)	NP_001185824.1:p.Val222Ala
NM_001198896.1:c.449T>C (ACY1)	NP_001185825.1:p.Val150Ala
NM_001198897.1:c.657+93T>C (ACY1)	NP_001185826.1:n.657+93T>C
NM_001198898.1:c.560T>C (ACY1)	NP_001185827.1:p.Val187Ala
NM_001316331.1:c.935T>C (ABHD14A-ACY1)	NP_001303260.1:p.Val312Ala
NM_000666.3:c.665T>C (ACY1) MANE Select	NP_000657.1:p.Val222Ala
NM_001198895.2:c.665T>C (ACY1)	NP_001185824.1:p.Val222Ala
NM_001198896.2:c.449T>C (ACY1)	NP_001185825.1:p.Val150Ala
NM_001198897.2:c.657+93T>C (ACY1)	NP_001185826.1:n.657+93T>C
NM_001198898.2:c.560T>C (ACY1)	NP_001185827.1:p.Val187Ala
NM_001316331.2:c.935T>C (ABHD14A-ACY1)	NP_001303260.1:p.Val312Ala