Canonical Allele Identifier: CA353091095

Gene: ACY1 ABHD14A-ACY1

Linked Data

• MyVariant Identifiers: chr3:g.52021206G>A (hg19) ; chr3:g.51987190G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51987190G>A , CM000665.2:g.51987190G>A	GRCh38
NC_000003.11:g.52021206G>A , CM000665.1:g.52021206G>A	GRCh37
NC_000003.10:g.51996246G>A	NCBI36
NG_012036.1:g.8644G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.701G>A (ACY1)	ENSP00000384296.2:p.Trp234Ter
ENST00000464587.2:n.387G>A (ACY1)
ENST00000635785.1:c.887+129G>A (ABHD14A-ACY1)
ENST00000635797.1:c.596G>A (ACY1)	ENSP00000490007.1:p.Trp199Ter
ENST00000635937.1:c.*958G>A (ABHD14A-ACY1)	ENSP00000489887.1:n.*958G>A
ENST00000635941.1:c.975G>A (ACY1)	ENSP00000490309.1:n.975G>A
ENST00000635946.1:c.*1058G>A (ABHD14A-ACY1)	ENSP00000490284.1:n.*1058G>A
ENST00000635951.1:c.*973G>A (ABHD14A-ACY1)	ENSP00000490649.1:n.*973G>A
ENST00000635952.1:c.788G>A (ABHD14A-ACY1)	ENSP00000490434.1:p.Trp263Ter
ENST00000636089.1:c.*1038G>A (ABHD14A-ACY1)	ENSP00000490657.1:n.*1038G>A
ENST00000636358.2:c.701G>A (ACY1) MANE Select	ENSP00000490149.1:p.Trp234Ter
ENST00000636490.1:c.*1038G>A (ABHD14A-ACY1)	ENSP00000490575.1:n.*1038G>A
ENST00000636556.1:c.*646G>A (ACY1)	ENSP00000490500.1:n.*646G>A
ENST00000636646.1:c.*938G>A (ABHD14A-ACY1)	ENSP00000490688.1:n.*938G>A
ENST00000636660.1:c.664G>A (ABHD14A-ACY1)
ENST00000636718.1:c.*1313G>A (ABHD14A-ACY1)	ENSP00000490429.1:n.*1313G>A
ENST00000636826.1:c.*632G>A (ABHD14A-ACY1)	ENSP00000489721.1:n.*632G>A
ENST00000636880.1:c.*411G>A (ACY1)	ENSP00000489947.1:n.*411G>A
ENST00000636942.1:c.*582G>A (ABHD14A-ACY1)	ENSP00000490848.1:n.*582G>A
ENST00000637025.1:c.*822G>A (ABHD14A-ACY1)	ENSP00000490236.1:n.*822G>A
ENST00000637034.1:n.134G>A (ACY1)
ENST00000637130.1:c.*922G>A (ABHD14A-ACY1)	ENSP00000490887.1:n.*922G>A
ENST00000637199.1:n.174G>A (ACY1)
ENST00000637222.1:c.701G>A (ABHD14A-ACY1)	ENSP00000490353.1:p.Trp234Ter
ENST00000637349.1:c.*220+129G>A (ACY1)	ENSP00000489688.1:n.*220+129G>A
ENST00000637460.1:n.735G>A (ACY1)
ENST00000637512.1:c.951G>A (ABHD14A-ACY1)
ENST00000637563.1:c.*1449G>A (ABHD14A-ACY1)	ENSP00000490319.1:n.*1449G>A
ENST00000637696.1:c.*1058G>A (ABHD14A-ACY1)	ENSP00000490554.1:n.*1058G>A
ENST00000637730.1:c.1234G>A (ABHD14A-ACY1)
ENST00000637778.1:c.*1449G>A (ABHD14A-ACY1)	ENSP00000490052.1:n.*1449G>A
ENST00000637978.1:c.1270G>A (ABHD14A-ACY1)
ENST00000638096.1:n.592G>A (ACY1)
ENST00000638136.1:n.1117G>A (ACY1)
ENST00000404366.6:c.701G>A (ACY1)	ENSP00000384296.2:p.Trp234Ter
ENST00000463721.5:c.*612G>A (ABHD14A-ACY1)	ENSP00000417688.1:n.*612G>A
ENST00000463937.1:c.1004G>A (ABHD14A-ACY1)	ENSP00000420487.1:p.Trp335Ter
ENST00000464587.1:n.387G>A (ACY1)
ENST00000465121.5:n.774G>A (ACY1)
ENST00000476351.5:c.596G>A (ACY1)	ENSP00000417056.1:p.Trp199Ter
ENST00000476854.5:c.657+129G>A (ACY1)	ENSP00000419262.1:n.657+129G>A
ENST00000491318.5:c.584-119G>A (ACY1)	ENSP00000418683.1:n.584-119G>A
ENST00000494103.5:c.485G>A (ACY1)	ENSP00000417618.1:p.Trp162Ter
NM_000666.2:c.701G>A (ACY1)	NP_000657.1:p.Trp234Ter
NM_001198895.1:c.701G>A (ACY1)	NP_001185824.1:p.Trp234Ter
NM_001198896.1:c.485G>A (ACY1)	NP_001185825.1:p.Trp162Ter
NM_001198897.1:c.657+129G>A (ACY1)	NP_001185826.1:n.657+129G>A
NM_001198898.1:c.596G>A (ACY1)	NP_001185827.1:p.Trp199Ter
NM_001316331.1:c.971G>A (ABHD14A-ACY1)	NP_001303260.1:p.Trp324Ter
NM_000666.3:c.701G>A (ACY1) MANE Select	NP_000657.1:p.Trp234Ter
NM_001198895.2:c.701G>A (ACY1)	NP_001185824.1:p.Trp234Ter
NM_001198896.2:c.485G>A (ACY1)	NP_001185825.1:p.Trp162Ter
NM_001198897.2:c.657+129G>A (ACY1)	NP_001185826.1:n.657+129G>A
NM_001198898.2:c.596G>A (ACY1)	NP_001185827.1:p.Trp199Ter
NM_001316331.2:c.971G>A (ABHD14A-ACY1)	NP_001303260.1:p.Trp324Ter