Canonical Allele Identifier: CA2428579

Gene: ACY1 ABHD14A-ACY1

Linked Data

• dbSNP Id: rs758400211
• ExAC: 3:52021068 A / G
• gnomAD v2: 3-52021068-A-G
• gnomAD v4: 3-51987052-A-G
• MyVariant Identifiers: chr3:g.52021068A>G (hg19) ; chr3:g.51987052A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987052A>G , CM000665.2:g.51987052A>G	GRCh38
NC_000003.11:g.52021068A>G , CM000665.1:g.52021068A>G	GRCh37
NC_000003.10:g.51996108A>G	NCBI36
NG_012036.1:g.8506A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.648A>G (ACY1)	ENSP00000384296.2:p.Ala216=
ENST00000464587.2:n.334A>G (ACY1)
ENST00000486081.6:c.*494A>G (ABHD14A-ACY1)	ENSP00000420395.1:n.*494A>G
ENST00000635785.1:c.878A>G (ABHD14A-ACY1)
ENST00000635797.1:c.543A>G (ACY1)	ENSP00000490007.1:p.Ala181=
ENST00000635937.1:c.*820A>G (ABHD14A-ACY1)	ENSP00000489887.1:n.*820A>G
ENST00000635941.1:c.837A>G (ACY1)	ENSP00000490309.1:n.837A>G
ENST00000635946.1:c.*920A>G (ABHD14A-ACY1)	ENSP00000490284.1:n.*920A>G
ENST00000635951.1:c.*920A>G (ABHD14A-ACY1)	ENSP00000490649.1:n.*920A>G
ENST00000635952.1:c.735A>G (ABHD14A-ACY1)	ENSP00000490434.1:p.Ala245=
ENST00000636085.1:c.*494A>G (ABHD14A-ACY1)	ENSP00000489981.1:n.*494A>G
ENST00000636089.1:c.*985A>G (ABHD14A-ACY1)	ENSP00000490657.1:n.*985A>G
ENST00000636358.2:c.648A>G (ACY1) MANE Select	ENSP00000490149.1:p.Ala216=
ENST00000636490.1:c.*985A>G (ABHD14A-ACY1)	ENSP00000490575.1:n.*985A>G
ENST00000636556.1:c.*593A>G (ACY1)	ENSP00000490500.1:n.*593A>G
ENST00000636646.1:c.*885A>G (ABHD14A-ACY1)	ENSP00000490688.1:n.*885A>G
ENST00000636660.1:c.526A>G (ABHD14A-ACY1)
ENST00000636718.1:c.*1175A>G (ABHD14A-ACY1)	ENSP00000490429.1:n.*1175A>G
ENST00000636826.1:c.*494A>G (ABHD14A-ACY1)	ENSP00000489721.1:n.*494A>G
ENST00000636880.1:c.*358A>G (ACY1)	ENSP00000489947.1:n.*358A>G
ENST00000636942.1:c.*529A>G (ABHD14A-ACY1)	ENSP00000490848.1:n.*529A>G
ENST00000637025.1:c.*684A>G (ABHD14A-ACY1)	ENSP00000490236.1:n.*684A>G
ENST00000637130.1:c.*784A>G (ABHD14A-ACY1)	ENSP00000490887.1:n.*784A>G
ENST00000637199.1:n.121A>G (ACY1)
ENST00000637209.1:c.*358A>G (ACY1)	ENSP00000490708.1:n.*358A>G
ENST00000637222.1:c.648A>G (ABHD14A-ACY1)	ENSP00000490353.1:p.Ala216=
ENST00000637251.1:n.1721A>G (ACY1)
ENST00000637349.1:c.*211A>G (ACY1)	ENSP00000489688.1:n.*211A>G
ENST00000637460.1:n.682A>G (ACY1)
ENST00000637461.1:c.495A>G (ABHD14A-ACY1)
ENST00000637512.1:c.813A>G (ABHD14A-ACY1)
ENST00000637563.1:c.*1311A>G (ABHD14A-ACY1)	ENSP00000490319.1:n.*1311A>G
ENST00000637696.1:c.*920A>G (ABHD14A-ACY1)	ENSP00000490554.1:n.*920A>G
ENST00000637730.1:c.1181A>G (ABHD14A-ACY1)
ENST00000637778.1:c.*1311A>G (ABHD14A-ACY1)	ENSP00000490052.1:n.*1311A>G
ENST00000637978.1:c.1217A>G (ABHD14A-ACY1)
ENST00000638096.1:n.454A>G (ACY1)
ENST00000638136.1:n.979A>G (ACY1)
ENST00000404366.6:c.648A>G (ACY1)	ENSP00000384296.2:p.Ala216=
ENST00000463721.5:c.*559A>G (ABHD14A-ACY1)	ENSP00000417688.1:n.*559A>G
ENST00000463937.1:c.951A>G (ABHD14A-ACY1)	ENSP00000420487.1:p.Ala317=
ENST00000464587.1:n.334A>G (ACY1)
ENST00000465121.5:n.721A>G (ACY1)
ENST00000469863.1:c.675A>G (ACY1)	ENSP00000419830.1:p.Ala225=
ENST00000476351.5:c.543A>G (ACY1)	ENSP00000417056.1:p.Ala181=
ENST00000476854.5:c.648A>G (ACY1)	ENSP00000419262.1:p.Ala216=
ENST00000491318.5:c.584-257A>G (ACY1)	ENSP00000418683.1:n.584-257A>G
ENST00000494103.5:c.432A>G (ACY1)	ENSP00000417618.1:p.Ala144=
NM_000666.2:c.648A>G (ACY1)	NP_000657.1:p.Ala216=
NM_001198895.1:c.648A>G (ACY1)	NP_001185824.1:p.Ala216=
NM_001198896.1:c.432A>G (ACY1)	NP_001185825.1:p.Ala144=
NM_001198897.1:c.648A>G (ACY1)	NP_001185826.1:p.Ala216=
NM_001198898.1:c.543A>G (ACY1)	NP_001185827.1:p.Ala181=
NM_001316331.1:c.918A>G (ABHD14A-ACY1)	NP_001303260.1:p.Ala306=
NM_000666.3:c.648A>G (ACY1) MANE Select	NP_000657.1:p.Ala216=
NM_001198895.2:c.648A>G (ACY1)	NP_001185824.1:p.Ala216=
NM_001198896.2:c.432A>G (ACY1)	NP_001185825.1:p.Ala144=
NM_001198897.2:c.648A>G (ACY1)	NP_001185826.1:p.Ala216=
NM_001198898.2:c.543A>G (ACY1)	NP_001185827.1:p.Ala181=
NM_001316331.2:c.918A>G (ABHD14A-ACY1)	NP_001303260.1:p.Ala306=