Canonical Allele Identifier: CA543055673

Gene: ACY1 ABHD14A-ACY1

Linked Data

• gnomAD v2: 3-52020819-T-C
• gnomAD v4: 3-51986803-T-C
• MyVariant Identifiers: chr3:g.52020819T>C (hg19) ; chr3:g.51986803T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.51986803T>C , CM000665.2:g.51986803T>C	GRCh38
NC_000003.11:g.52020819T>C , CM000665.1:g.52020819T>C	GRCh37
NC_000003.10:g.51995859T>C	NCBI36
NG_012036.1:g.8257T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404366.7:c.583+142T>C (ACY1)	ENSP00000384296.2:n.583+142T>C
ENST00000464587.2:n.269+142T>C (ACY1)
ENST00000486081.6:c.*429+142T>C (ABHD14A-ACY1)	ENSP00000420395.1:n.*429+142T>C
ENST00000635785.1:c.813+142T>C (ABHD14A-ACY1)
ENST00000635797.1:c.478+142T>C (ACY1)	ENSP00000490007.1:n.478+142T>C
ENST00000635937.1:c.*571T>C (ABHD14A-ACY1)	ENSP00000489887.1:n.*571T>C
ENST00000635941.1:c.588T>C (ACY1)	ENSP00000490309.1:n.588T>C
ENST00000635946.1:c.*671T>C (ABHD14A-ACY1)	ENSP00000490284.1:n.*671T>C
ENST00000635951.1:c.*671T>C (ABHD14A-ACY1)	ENSP00000490649.1:n.*671T>C
ENST00000635952.1:c.670+142T>C (ABHD14A-ACY1)	ENSP00000490434.1:n.670+142T>C
ENST00000636047.1:n.561-142T>C (ACY1)
ENST00000636085.1:c.*429+142T>C (ABHD14A-ACY1)	ENSP00000489981.1:n.*429+142T>C
ENST00000636089.1:c.*736T>C (ABHD14A-ACY1)	ENSP00000490657.1:n.*736T>C
ENST00000636358.2:c.583+142T>C (ACY1) MANE Select	ENSP00000490149.1:n.583+142T>C
ENST00000636490.1:c.*736T>C (ABHD14A-ACY1)	ENSP00000490575.1:n.*736T>C
ENST00000636556.1:c.*528+142T>C (ACY1)	ENSP00000490500.1:n.*528+142T>C
ENST00000636646.1:c.*636T>C (ABHD14A-ACY1)	ENSP00000490688.1:n.*636T>C
ENST00000636660.1:c.461+142T>C (ABHD14A-ACY1)
ENST00000636718.1:c.*926T>C (ABHD14A-ACY1)	ENSP00000490429.1:n.*926T>C
ENST00000636826.1:c.*429+142T>C (ABHD14A-ACY1)	ENSP00000489721.1:n.*429+142T>C
ENST00000636880.1:c.*293+142T>C (ACY1)	ENSP00000489947.1:n.*293+142T>C
ENST00000636942.1:c.*429+142T>C (ABHD14A-ACY1)	ENSP00000490848.1:n.*429+142T>C
ENST00000637025.1:c.*435T>C (ABHD14A-ACY1)	ENSP00000490236.1:n.*435T>C
ENST00000637130.1:c.*535T>C (ABHD14A-ACY1)	ENSP00000490887.1:n.*535T>C
ENST00000637209.1:c.*293+142T>C (ACY1)	ENSP00000490708.1:n.*293+142T>C
ENST00000637222.1:c.583+142T>C (ABHD14A-ACY1)	ENSP00000490353.1:n.583+142T>C
ENST00000637251.1:n.1472T>C (ACY1)
ENST00000637349.1:c.*146+142T>C (ACY1)	ENSP00000489688.1:n.*146+142T>C
ENST00000637460.1:n.575-142T>C (ACY1)
ENST00000637461.1:c.430+142T>C (ABHD14A-ACY1)
ENST00000637512.1:c.748+142T>C (ABHD14A-ACY1)
ENST00000637563.1:c.*1062T>C (ABHD14A-ACY1)	ENSP00000490319.1:n.*1062T>C
ENST00000637696.1:c.*671T>C (ABHD14A-ACY1)	ENSP00000490554.1:n.*671T>C
ENST00000637730.1:c.932T>C (ABHD14A-ACY1)
ENST00000637778.1:c.*1062T>C (ABHD14A-ACY1)	ENSP00000490052.1:n.*1062T>C
ENST00000637978.1:c.1152+142T>C (ABHD14A-ACY1)
ENST00000638096.1:n.205T>C (ACY1)
ENST00000638136.1:n.914+142T>C (ACY1)
ENST00000404366.6:c.583+142T>C (ACY1)	ENSP00000384296.2:n.583+142T>C
ENST00000463721.5:c.*494+142T>C (ABHD14A-ACY1)	ENSP00000417688.1:n.*494+142T>C
ENST00000463937.1:c.886+142T>C (ABHD14A-ACY1)	ENSP00000420487.1:n.886+142T>C
ENST00000464587.1:n.269+142T>C (ACY1)
ENST00000465121.5:n.656+142T>C (ACY1)
ENST00000469863.1:c.610+142T>C (ACY1)	ENSP00000419830.1:n.610+142T>C
ENST00000476351.5:c.478+142T>C (ACY1)	ENSP00000417056.1:n.478+142T>C
ENST00000476854.5:c.583+142T>C (ACY1)	ENSP00000419262.1:n.583+142T>C
ENST00000491318.5:c.583+142T>C (ACY1)	ENSP00000418683.1:n.583+142T>C
ENST00000494103.5:c.367+142T>C (ACY1)	ENSP00000417618.1:n.367+142T>C
ENST00000497128.1:n.828T>C (ABHD14A-ACY1)
NM_000666.2:c.583+142T>C (ACY1)	NP_000657.1:n.583+142T>C
NM_001198895.1:c.583+142T>C (ACY1)	NP_001185824.1:n.583+142T>C
NM_001198896.1:c.367+142T>C (ACY1)	NP_001185825.1:n.367+142T>C
NM_001198897.1:c.583+142T>C (ACY1)	NP_001185826.1:n.583+142T>C
NM_001198898.1:c.478+142T>C (ACY1)	NP_001185827.1:n.478+142T>C
NM_001316331.1:c.853+142T>C (ABHD14A-ACY1)	NP_001303260.1:n.853+142T>C
NM_000666.3:c.583+142T>C (ACY1) MANE Select	NP_000657.1:n.583+142T>C
NM_001198895.2:c.583+142T>C (ACY1)	NP_001185824.1:n.583+142T>C
NM_001198896.2:c.367+142T>C (ACY1)	NP_001185825.1:n.367+142T>C
NM_001198897.2:c.583+142T>C (ACY1)	NP_001185826.1:n.583+142T>C
NM_001198898.2:c.478+142T>C (ACY1)	NP_001185827.1:n.478+142T>C
NM_001316331.2:c.853+142T>C (ABHD14A-ACY1)	NP_001303260.1:n.853+142T>C