Canonical Allele Identifier: CA2665956459
Gene: ACY1 HGNC NCBI
ABHD14A-ACY1 HGNC NCBI

Linked Data

gnomAD v4: 3-51986791-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51986791C>A , CM000665.2:g.51986791C>A GRCh38
NC_000003.11:g.52020807C>A , CM000665.1:g.52020807C>A GRCh37
NC_000003.10:g.51995847C>A NCBI36
NG_012036.1:g.8245C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000404366.7:c.583+130C>A (ACY1) ENSP00000384296.2:n.583+130C>A
ENST00000464587.2:n.269+130C>A (ACY1)
ENST00000486081.6:c.*429+130C>A (ABHD14A-ACY1) ENSP00000420395.1:n.*429+130C>A
ENST00000635785.1:c.813+130C>A (ABHD14A-ACY1)
ENST00000635797.1:c.478+130C>A (ACY1) ENSP00000490007.1:n.478+130C>A
ENST00000635937.1:c.*559C>A (ABHD14A-ACY1) ENSP00000489887.1:n.*559C>A
ENST00000635941.1:c.576C>A (ACY1) ENSP00000490309.1:n.576C>A
ENST00000635946.1:c.*659C>A (ABHD14A-ACY1) ENSP00000490284.1:n.*659C>A
ENST00000635951.1:c.*659C>A (ABHD14A-ACY1) ENSP00000490649.1:n.*659C>A
ENST00000635952.1:c.670+130C>A (ABHD14A-ACY1) ENSP00000490434.1:n.670+130C>A
ENST00000636047.1:n.560+130C>A (ACY1)
ENST00000636085.1:c.*429+130C>A (ABHD14A-ACY1) ENSP00000489981.1:n.*429+130C>A
ENST00000636089.1:c.*724C>A (ABHD14A-ACY1) ENSP00000490657.1:n.*724C>A
ENST00000636358.2:c.583+130C>A (ACY1) MANE Select ENSP00000490149.1:n.583+130C>A
ENST00000636490.1:c.*724C>A (ABHD14A-ACY1) ENSP00000490575.1:n.*724C>A
ENST00000636556.1:c.*528+130C>A (ACY1) ENSP00000490500.1:n.*528+130C>A
ENST00000636646.1:c.*624C>A (ABHD14A-ACY1) ENSP00000490688.1:n.*624C>A
ENST00000636660.1:c.461+130C>A (ABHD14A-ACY1)
ENST00000636718.1:c.*914C>A (ABHD14A-ACY1) ENSP00000490429.1:n.*914C>A
ENST00000636826.1:c.*429+130C>A (ABHD14A-ACY1) ENSP00000489721.1:n.*429+130C>A
ENST00000636880.1:c.*293+130C>A (ACY1) ENSP00000489947.1:n.*293+130C>A
ENST00000636942.1:c.*429+130C>A (ABHD14A-ACY1) ENSP00000490848.1:n.*429+130C>A
ENST00000637025.1:c.*423C>A (ABHD14A-ACY1) ENSP00000490236.1:n.*423C>A
ENST00000637130.1:c.*523C>A (ABHD14A-ACY1) ENSP00000490887.1:n.*523C>A
ENST00000637209.1:c.*293+130C>A (ACY1) ENSP00000490708.1:n.*293+130C>A
ENST00000637222.1:c.583+130C>A (ABHD14A-ACY1) ENSP00000490353.1:n.583+130C>A
ENST00000637251.1:n.1460C>A (ACY1)
ENST00000637349.1:c.*146+130C>A (ACY1) ENSP00000489688.1:n.*146+130C>A
ENST00000637460.1:n.574+130C>A (ACY1)
ENST00000637461.1:c.430+130C>A (ABHD14A-ACY1)
ENST00000637512.1:c.748+130C>A (ABHD14A-ACY1)
ENST00000637563.1:c.*1050C>A (ABHD14A-ACY1) ENSP00000490319.1:n.*1050C>A
ENST00000637696.1:c.*659C>A (ABHD14A-ACY1) ENSP00000490554.1:n.*659C>A
ENST00000637730.1:c.920C>A (ABHD14A-ACY1)
ENST00000637778.1:c.*1050C>A (ABHD14A-ACY1) ENSP00000490052.1:n.*1050C>A
ENST00000637978.1:c.1152+130C>A (ABHD14A-ACY1)
ENST00000638096.1:n.193C>A (ACY1)
ENST00000638136.1:n.914+130C>A (ACY1)
ENST00000404366.6:c.583+130C>A (ACY1) ENSP00000384296.2:n.583+130C>A
ENST00000463721.5:c.*494+130C>A (ABHD14A-ACY1) ENSP00000417688.1:n.*494+130C>A
ENST00000463937.1:c.886+130C>A (ABHD14A-ACY1) ENSP00000420487.1:n.886+130C>A
ENST00000464587.1:n.269+130C>A (ACY1)
ENST00000465121.5:n.656+130C>A (ACY1)
ENST00000469863.1:c.610+130C>A (ACY1) ENSP00000419830.1:n.610+130C>A
ENST00000476351.5:c.478+130C>A (ACY1) ENSP00000417056.1:n.478+130C>A
ENST00000476854.5:c.583+130C>A (ACY1) ENSP00000419262.1:n.583+130C>A
ENST00000491318.5:c.583+130C>A (ACY1) ENSP00000418683.1:n.583+130C>A
ENST00000494103.5:c.367+130C>A (ACY1) ENSP00000417618.1:n.367+130C>A
ENST00000497128.1:n.816C>A (ABHD14A-ACY1)
NM_000666.2:c.583+130C>A (ACY1) NP_000657.1:n.583+130C>A
NM_001198895.1:c.583+130C>A (ACY1) NP_001185824.1:n.583+130C>A
NM_001198896.1:c.367+130C>A (ACY1) NP_001185825.1:n.367+130C>A
NM_001198897.1:c.583+130C>A (ACY1) NP_001185826.1:n.583+130C>A
NM_001198898.1:c.478+130C>A (ACY1) NP_001185827.1:n.478+130C>A
NM_001316331.1:c.853+130C>A (ABHD14A-ACY1) NP_001303260.1:n.853+130C>A
NM_000666.3:c.583+130C>A (ACY1) MANE Select NP_000657.1:n.583+130C>A
NM_001198895.2:c.583+130C>A (ACY1) NP_001185824.1:n.583+130C>A
NM_001198896.2:c.367+130C>A (ACY1) NP_001185825.1:n.367+130C>A
NM_001198897.2:c.583+130C>A (ACY1) NP_001185826.1:n.583+130C>A
NM_001198898.2:c.478+130C>A (ACY1) NP_001185827.1:n.478+130C>A
NM_001316331.2:c.853+130C>A (ABHD14A-ACY1) NP_001303260.1:n.853+130C>A