Canonical Allele Identifier: CA2428564

Gene: ACY1 ABHD14A-ACY1

Linked Data

• dbSNP Id: rs777838025
• ExAC: 3:52021005 G / A
• gnomAD v2: 3-52021005-G-A
• gnomAD v3: 3-51986989-G-A
• gnomAD v4: 3-51986989-G-A
• MyVariant Identifiers: chr3:g.52021005G>A (hg19) ; chr3:g.51986989G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51986989G>A , CM000665.2:g.51986989G>A	GRCh38
NC_000003.11:g.52021005G>A , CM000665.1:g.52021005G>A	GRCh37
NC_000003.10:g.51996045G>A	NCBI36
NG_012036.1:g.8443G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.585G>A (ACY1)	ENSP00000384296.2:p.Trp195Ter
ENST00000464587.2:n.271G>A (ACY1)
ENST00000486081.6:c.*431G>A (ABHD14A-ACY1)	ENSP00000420395.1:n.*431G>A
ENST00000635785.1:c.815G>A (ABHD14A-ACY1)
ENST00000635797.1:c.480G>A (ACY1)	ENSP00000490007.1:p.Trp160Ter
ENST00000635937.1:c.*757G>A (ABHD14A-ACY1)	ENSP00000489887.1:n.*757G>A
ENST00000635941.1:c.774G>A (ACY1)	ENSP00000490309.1:n.774G>A
ENST00000635946.1:c.*857G>A (ABHD14A-ACY1)	ENSP00000490284.1:n.*857G>A
ENST00000635951.1:c.*857G>A (ABHD14A-ACY1)	ENSP00000490649.1:n.*857G>A
ENST00000635952.1:c.672G>A (ABHD14A-ACY1)	ENSP00000490434.1:p.Trp224Ter
ENST00000636085.1:c.*431G>A (ABHD14A-ACY1)	ENSP00000489981.1:n.*431G>A
ENST00000636089.1:c.*922G>A (ABHD14A-ACY1)	ENSP00000490657.1:n.*922G>A
ENST00000636358.2:c.585G>A (ACY1) MANE Select	ENSP00000490149.1:p.Trp195Ter
ENST00000636490.1:c.*922G>A (ABHD14A-ACY1)	ENSP00000490575.1:n.*922G>A
ENST00000636556.1:c.*530G>A (ACY1)	ENSP00000490500.1:n.*530G>A
ENST00000636646.1:c.*822G>A (ABHD14A-ACY1)	ENSP00000490688.1:n.*822G>A
ENST00000636660.1:c.463G>A (ABHD14A-ACY1)
ENST00000636718.1:c.*1112G>A (ABHD14A-ACY1)	ENSP00000490429.1:n.*1112G>A
ENST00000636826.1:c.*431G>A (ABHD14A-ACY1)	ENSP00000489721.1:n.*431G>A
ENST00000636880.1:c.*295G>A (ACY1)	ENSP00000489947.1:n.*295G>A
ENST00000636942.1:c.*466G>A (ABHD14A-ACY1)	ENSP00000490848.1:n.*466G>A
ENST00000637025.1:c.*621G>A (ABHD14A-ACY1)	ENSP00000490236.1:n.*621G>A
ENST00000637130.1:c.*721G>A (ABHD14A-ACY1)	ENSP00000490887.1:n.*721G>A
ENST00000637199.1:n.58G>A (ACY1)
ENST00000637209.1:c.*295G>A (ACY1)	ENSP00000490708.1:n.*295G>A
ENST00000637222.1:c.585G>A (ABHD14A-ACY1)	ENSP00000490353.1:p.Trp195Ter
ENST00000637251.1:n.1658G>A (ACY1)
ENST00000637349.1:c.*148G>A (ACY1)	ENSP00000489688.1:n.*148G>A
ENST00000637460.1:n.619G>A (ACY1)
ENST00000637461.1:c.432G>A (ABHD14A-ACY1)
ENST00000637512.1:c.750G>A (ABHD14A-ACY1)
ENST00000637563.1:c.*1248G>A (ABHD14A-ACY1)	ENSP00000490319.1:n.*1248G>A
ENST00000637696.1:c.*857G>A (ABHD14A-ACY1)	ENSP00000490554.1:n.*857G>A
ENST00000637730.1:c.1118G>A (ABHD14A-ACY1)
ENST00000637778.1:c.*1248G>A (ABHD14A-ACY1)	ENSP00000490052.1:n.*1248G>A
ENST00000637978.1:c.1154G>A (ABHD14A-ACY1)
ENST00000638096.1:n.391G>A (ACY1)
ENST00000638136.1:n.916G>A (ACY1)
ENST00000404366.6:c.585G>A (ACY1)	ENSP00000384296.2:p.Trp195Ter
ENST00000463721.5:c.*496G>A (ABHD14A-ACY1)	ENSP00000417688.1:n.*496G>A
ENST00000463937.1:c.888G>A (ABHD14A-ACY1)	ENSP00000420487.1:p.Trp296Ter
ENST00000464587.1:n.271G>A (ACY1)
ENST00000465121.5:n.658G>A (ACY1)
ENST00000469863.1:c.612G>A (ACY1)	ENSP00000419830.1:p.Trp204Ter
ENST00000476351.5:c.480G>A (ACY1)	ENSP00000417056.1:p.Trp160Ter
ENST00000476854.5:c.585G>A (ACY1)	ENSP00000419262.1:p.Trp195Ter
ENST00000491318.5:c.584-320G>A (ACY1)	ENSP00000418683.1:n.584-320G>A
ENST00000494103.5:c.369G>A (ACY1)	ENSP00000417618.1:p.Trp123Ter
NM_000666.2:c.585G>A (ACY1)	NP_000657.1:p.Trp195Ter
NM_001198895.1:c.585G>A (ACY1)	NP_001185824.1:p.Trp195Ter
NM_001198896.1:c.369G>A (ACY1)	NP_001185825.1:p.Trp123Ter
NM_001198897.1:c.585G>A (ACY1)	NP_001185826.1:p.Trp195Ter
NM_001198898.1:c.480G>A (ACY1)	NP_001185827.1:p.Trp160Ter
NM_001316331.1:c.855G>A (ABHD14A-ACY1)	NP_001303260.1:p.Trp285Ter
NM_000666.3:c.585G>A (ACY1) MANE Select	NP_000657.1:p.Trp195Ter
NM_001198895.2:c.585G>A (ACY1)	NP_001185824.1:p.Trp195Ter
NM_001198896.2:c.369G>A (ACY1)	NP_001185825.1:p.Trp123Ter
NM_001198897.2:c.585G>A (ACY1)	NP_001185826.1:p.Trp195Ter
NM_001198898.2:c.480G>A (ACY1)	NP_001185827.1:p.Trp160Ter
NM_001316331.2:c.855G>A (ABHD14A-ACY1)	NP_001303260.1:p.Trp285Ter