Canonical Allele Identifier: CA74716642

Gene: ACY1 ABHD14A-ACY1

Linked Data

• dbSNP Id: rs529152973
• gnomAD v3: 3-51986804-A-G
• gnomAD v4: 3-51986804-A-G
• MyVariant Identifiers: chr3:g.52020820A>G (hg19) ; chr3:g.51986804A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51986804A>G , CM000665.2:g.51986804A>G	GRCh38
NC_000003.11:g.52020820A>G , CM000665.1:g.52020820A>G	GRCh37
NC_000003.10:g.51995860A>G	NCBI36
NG_012036.1:g.8258A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.583+143A>G (ACY1)	ENSP00000384296.2:n.583+143A>G
ENST00000464587.2:n.269+143A>G (ACY1)
ENST00000486081.6:c.*429+143A>G (ABHD14A-ACY1)	ENSP00000420395.1:n.*429+143A>G
ENST00000635785.1:c.813+143A>G (ABHD14A-ACY1)
ENST00000635797.1:c.478+143A>G (ACY1)	ENSP00000490007.1:n.478+143A>G
ENST00000635937.1:c.*572A>G (ABHD14A-ACY1)	ENSP00000489887.1:n.*572A>G
ENST00000635941.1:c.589A>G (ACY1)	ENSP00000490309.1:n.589A>G
ENST00000635946.1:c.*672A>G (ABHD14A-ACY1)	ENSP00000490284.1:n.*672A>G
ENST00000635951.1:c.*672A>G (ABHD14A-ACY1)	ENSP00000490649.1:n.*672A>G
ENST00000635952.1:c.670+143A>G (ABHD14A-ACY1)	ENSP00000490434.1:n.670+143A>G
ENST00000636047.1:n.561-141A>G (ACY1)
ENST00000636085.1:c.*429+143A>G (ABHD14A-ACY1)	ENSP00000489981.1:n.*429+143A>G
ENST00000636089.1:c.*737A>G (ABHD14A-ACY1)	ENSP00000490657.1:n.*737A>G
ENST00000636358.2:c.583+143A>G (ACY1) MANE Select	ENSP00000490149.1:n.583+143A>G
ENST00000636490.1:c.*737A>G (ABHD14A-ACY1)	ENSP00000490575.1:n.*737A>G
ENST00000636556.1:c.*528+143A>G (ACY1)	ENSP00000490500.1:n.*528+143A>G
ENST00000636646.1:c.*637A>G (ABHD14A-ACY1)	ENSP00000490688.1:n.*637A>G
ENST00000636660.1:c.461+143A>G (ABHD14A-ACY1)
ENST00000636718.1:c.*927A>G (ABHD14A-ACY1)	ENSP00000490429.1:n.*927A>G
ENST00000636826.1:c.*429+143A>G (ABHD14A-ACY1)	ENSP00000489721.1:n.*429+143A>G
ENST00000636880.1:c.*293+143A>G (ACY1)	ENSP00000489947.1:n.*293+143A>G
ENST00000636942.1:c.*429+143A>G (ABHD14A-ACY1)	ENSP00000490848.1:n.*429+143A>G
ENST00000637025.1:c.*436A>G (ABHD14A-ACY1)	ENSP00000490236.1:n.*436A>G
ENST00000637130.1:c.*536A>G (ABHD14A-ACY1)	ENSP00000490887.1:n.*536A>G
ENST00000637209.1:c.*293+143A>G (ACY1)	ENSP00000490708.1:n.*293+143A>G
ENST00000637222.1:c.583+143A>G (ABHD14A-ACY1)	ENSP00000490353.1:n.583+143A>G
ENST00000637251.1:n.1473A>G (ACY1)
ENST00000637349.1:c.*146+143A>G (ACY1)	ENSP00000489688.1:n.*146+143A>G
ENST00000637460.1:n.575-141A>G (ACY1)
ENST00000637461.1:c.430+143A>G (ABHD14A-ACY1)
ENST00000637512.1:c.748+143A>G (ABHD14A-ACY1)
ENST00000637563.1:c.*1063A>G (ABHD14A-ACY1)	ENSP00000490319.1:n.*1063A>G
ENST00000637696.1:c.*672A>G (ABHD14A-ACY1)	ENSP00000490554.1:n.*672A>G
ENST00000637730.1:c.933A>G (ABHD14A-ACY1)
ENST00000637778.1:c.*1063A>G (ABHD14A-ACY1)	ENSP00000490052.1:n.*1063A>G
ENST00000637978.1:c.1152+143A>G (ABHD14A-ACY1)
ENST00000638096.1:n.206A>G (ACY1)
ENST00000638136.1:n.914+143A>G (ACY1)
ENST00000404366.6:c.583+143A>G (ACY1)	ENSP00000384296.2:n.583+143A>G
ENST00000463721.5:c.*494+143A>G (ABHD14A-ACY1)	ENSP00000417688.1:n.*494+143A>G
ENST00000463937.1:c.886+143A>G (ABHD14A-ACY1)	ENSP00000420487.1:n.886+143A>G
ENST00000464587.1:n.269+143A>G (ACY1)
ENST00000465121.5:n.656+143A>G (ACY1)
ENST00000469863.1:c.610+143A>G (ACY1)	ENSP00000419830.1:n.610+143A>G
ENST00000476351.5:c.478+143A>G (ACY1)	ENSP00000417056.1:n.478+143A>G
ENST00000476854.5:c.583+143A>G (ACY1)	ENSP00000419262.1:n.583+143A>G
ENST00000491318.5:c.583+143A>G (ACY1)	ENSP00000418683.1:n.583+143A>G
ENST00000494103.5:c.367+143A>G (ACY1)	ENSP00000417618.1:n.367+143A>G
ENST00000497128.1:n.829A>G (ABHD14A-ACY1)
NM_000666.2:c.583+143A>G (ACY1)	NP_000657.1:n.583+143A>G
NM_001198895.1:c.583+143A>G (ACY1)	NP_001185824.1:n.583+143A>G
NM_001198896.1:c.367+143A>G (ACY1)	NP_001185825.1:n.367+143A>G
NM_001198897.1:c.583+143A>G (ACY1)	NP_001185826.1:n.583+143A>G
NM_001198898.1:c.478+143A>G (ACY1)	NP_001185827.1:n.478+143A>G
NM_001316331.1:c.853+143A>G (ABHD14A-ACY1)	NP_001303260.1:n.853+143A>G
NM_000666.3:c.583+143A>G (ACY1) MANE Select	NP_000657.1:n.583+143A>G
NM_001198895.2:c.583+143A>G (ACY1)	NP_001185824.1:n.583+143A>G
NM_001198896.2:c.367+143A>G (ACY1)	NP_001185825.1:n.367+143A>G
NM_001198897.2:c.583+143A>G (ACY1)	NP_001185826.1:n.583+143A>G
NM_001198898.2:c.478+143A>G (ACY1)	NP_001185827.1:n.478+143A>G
NM_001316331.2:c.853+143A>G (ABHD14A-ACY1)	NP_001303260.1:n.853+143A>G