Canonical Allele Identifier: CA2665956482
Gene: ACY1 HGNC NCBI
ABHD14A-ACY1 HGNC NCBI

Linked Data

gnomAD v4: 3-51986800-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51986800T>C , CM000665.2:g.51986800T>C GRCh38
NC_000003.11:g.52020816T>C , CM000665.1:g.52020816T>C GRCh37
NC_000003.10:g.51995856T>C NCBI36
NG_012036.1:g.8254T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000404366.7:c.583+139T>C (ACY1) ENSP00000384296.2:n.583+139T>C
ENST00000464587.2:n.269+139T>C (ACY1)
ENST00000486081.6:c.*429+139T>C (ABHD14A-ACY1) ENSP00000420395.1:n.*429+139T>C
ENST00000635785.1:c.813+139T>C (ABHD14A-ACY1)
ENST00000635797.1:c.478+139T>C (ACY1) ENSP00000490007.1:n.478+139T>C
ENST00000635937.1:c.*568T>C (ABHD14A-ACY1) ENSP00000489887.1:n.*568T>C
ENST00000635941.1:c.585T>C (ACY1) ENSP00000490309.1:n.585T>C
ENST00000635946.1:c.*668T>C (ABHD14A-ACY1) ENSP00000490284.1:n.*668T>C
ENST00000635951.1:c.*668T>C (ABHD14A-ACY1) ENSP00000490649.1:n.*668T>C
ENST00000635952.1:c.670+139T>C (ABHD14A-ACY1) ENSP00000490434.1:n.670+139T>C
ENST00000636047.1:n.560+139T>C (ACY1)
ENST00000636085.1:c.*429+139T>C (ABHD14A-ACY1) ENSP00000489981.1:n.*429+139T>C
ENST00000636089.1:c.*733T>C (ABHD14A-ACY1) ENSP00000490657.1:n.*733T>C
ENST00000636358.2:c.583+139T>C (ACY1) MANE Select ENSP00000490149.1:n.583+139T>C
ENST00000636490.1:c.*733T>C (ABHD14A-ACY1) ENSP00000490575.1:n.*733T>C
ENST00000636556.1:c.*528+139T>C (ACY1) ENSP00000490500.1:n.*528+139T>C
ENST00000636646.1:c.*633T>C (ABHD14A-ACY1) ENSP00000490688.1:n.*633T>C
ENST00000636660.1:c.461+139T>C (ABHD14A-ACY1)
ENST00000636718.1:c.*923T>C (ABHD14A-ACY1) ENSP00000490429.1:n.*923T>C
ENST00000636826.1:c.*429+139T>C (ABHD14A-ACY1) ENSP00000489721.1:n.*429+139T>C
ENST00000636880.1:c.*293+139T>C (ACY1) ENSP00000489947.1:n.*293+139T>C
ENST00000636942.1:c.*429+139T>C (ABHD14A-ACY1) ENSP00000490848.1:n.*429+139T>C
ENST00000637025.1:c.*432T>C (ABHD14A-ACY1) ENSP00000490236.1:n.*432T>C
ENST00000637130.1:c.*532T>C (ABHD14A-ACY1) ENSP00000490887.1:n.*532T>C
ENST00000637209.1:c.*293+139T>C (ACY1) ENSP00000490708.1:n.*293+139T>C
ENST00000637222.1:c.583+139T>C (ABHD14A-ACY1) ENSP00000490353.1:n.583+139T>C
ENST00000637251.1:n.1469T>C (ACY1)
ENST00000637349.1:c.*146+139T>C (ACY1) ENSP00000489688.1:n.*146+139T>C
ENST00000637460.1:n.574+139T>C (ACY1)
ENST00000637461.1:c.430+139T>C (ABHD14A-ACY1)
ENST00000637512.1:c.748+139T>C (ABHD14A-ACY1)
ENST00000637563.1:c.*1059T>C (ABHD14A-ACY1) ENSP00000490319.1:n.*1059T>C
ENST00000637696.1:c.*668T>C (ABHD14A-ACY1) ENSP00000490554.1:n.*668T>C
ENST00000637730.1:c.929T>C (ABHD14A-ACY1)
ENST00000637778.1:c.*1059T>C (ABHD14A-ACY1) ENSP00000490052.1:n.*1059T>C
ENST00000637978.1:c.1152+139T>C (ABHD14A-ACY1)
ENST00000638096.1:n.202T>C (ACY1)
ENST00000638136.1:n.914+139T>C (ACY1)
ENST00000404366.6:c.583+139T>C (ACY1) ENSP00000384296.2:n.583+139T>C
ENST00000463721.5:c.*494+139T>C (ABHD14A-ACY1) ENSP00000417688.1:n.*494+139T>C
ENST00000463937.1:c.886+139T>C (ABHD14A-ACY1) ENSP00000420487.1:n.886+139T>C
ENST00000464587.1:n.269+139T>C (ACY1)
ENST00000465121.5:n.656+139T>C (ACY1)
ENST00000469863.1:c.610+139T>C (ACY1) ENSP00000419830.1:n.610+139T>C
ENST00000476351.5:c.478+139T>C (ACY1) ENSP00000417056.1:n.478+139T>C
ENST00000476854.5:c.583+139T>C (ACY1) ENSP00000419262.1:n.583+139T>C
ENST00000491318.5:c.583+139T>C (ACY1) ENSP00000418683.1:n.583+139T>C
ENST00000494103.5:c.367+139T>C (ACY1) ENSP00000417618.1:n.367+139T>C
ENST00000497128.1:n.825T>C (ABHD14A-ACY1)
NM_000666.2:c.583+139T>C (ACY1) NP_000657.1:n.583+139T>C
NM_001198895.1:c.583+139T>C (ACY1) NP_001185824.1:n.583+139T>C
NM_001198896.1:c.367+139T>C (ACY1) NP_001185825.1:n.367+139T>C
NM_001198897.1:c.583+139T>C (ACY1) NP_001185826.1:n.583+139T>C
NM_001198898.1:c.478+139T>C (ACY1) NP_001185827.1:n.478+139T>C
NM_001316331.1:c.853+139T>C (ABHD14A-ACY1) NP_001303260.1:n.853+139T>C
NM_000666.3:c.583+139T>C (ACY1) MANE Select NP_000657.1:n.583+139T>C
NM_001198895.2:c.583+139T>C (ACY1) NP_001185824.1:n.583+139T>C
NM_001198896.2:c.367+139T>C (ACY1) NP_001185825.1:n.367+139T>C
NM_001198897.2:c.583+139T>C (ACY1) NP_001185826.1:n.583+139T>C
NM_001198898.2:c.478+139T>C (ACY1) NP_001185827.1:n.478+139T>C
NM_001316331.2:c.853+139T>C (ABHD14A-ACY1) NP_001303260.1:n.853+139T>C