Canonical Allele Identifier: CA353091122
Gene: ACY1 HGNC NCBI
ABHD14A-ACY1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51987193A>G , CM000665.2:g.51987193A>G GRCh38
NC_000003.11:g.52021209A>G , CM000665.1:g.52021209A>G GRCh37
NC_000003.10:g.51996249A>G NCBI36
NG_012036.1:g.8647A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000404366.7:c.704A>G (ACY1) ENSP00000384296.2:p.Gln235Arg
ENST00000464587.2:n.390A>G (ACY1)
ENST00000635785.1:c.887+132A>G (ABHD14A-ACY1)
ENST00000635797.1:c.599A>G (ACY1) ENSP00000490007.1:p.Gln200Arg
ENST00000635937.1:c.*961A>G (ABHD14A-ACY1) ENSP00000489887.1:n.*961A>G
ENST00000635941.1:c.978A>G (ACY1) ENSP00000490309.1:n.978A>G
ENST00000635946.1:c.*1061A>G (ABHD14A-ACY1) ENSP00000490284.1:n.*1061A>G
ENST00000635951.1:c.*976A>G (ABHD14A-ACY1) ENSP00000490649.1:n.*976A>G
ENST00000635952.1:c.791A>G (ABHD14A-ACY1) ENSP00000490434.1:p.Gln264Arg
ENST00000636089.1:c.*1041A>G (ABHD14A-ACY1) ENSP00000490657.1:n.*1041A>G
ENST00000636358.2:c.704A>G (ACY1) MANE Select ENSP00000490149.1:p.Gln235Arg
ENST00000636490.1:c.*1041A>G (ABHD14A-ACY1) ENSP00000490575.1:n.*1041A>G
ENST00000636556.1:c.*649A>G (ACY1) ENSP00000490500.1:n.*649A>G
ENST00000636646.1:c.*941A>G (ABHD14A-ACY1) ENSP00000490688.1:n.*941A>G
ENST00000636660.1:c.667A>G (ABHD14A-ACY1)
ENST00000636718.1:c.*1316A>G (ABHD14A-ACY1) ENSP00000490429.1:n.*1316A>G
ENST00000636826.1:c.*635A>G (ABHD14A-ACY1) ENSP00000489721.1:n.*635A>G
ENST00000636880.1:c.*414A>G (ACY1) ENSP00000489947.1:n.*414A>G
ENST00000636942.1:c.*585A>G (ABHD14A-ACY1) ENSP00000490848.1:n.*585A>G
ENST00000637025.1:c.*825A>G (ABHD14A-ACY1) ENSP00000490236.1:n.*825A>G
ENST00000637034.1:n.137A>G (ACY1)
ENST00000637130.1:c.*925A>G (ABHD14A-ACY1) ENSP00000490887.1:n.*925A>G
ENST00000637199.1:n.177A>G (ACY1)
ENST00000637222.1:c.704A>G (ABHD14A-ACY1) ENSP00000490353.1:p.Gln235Arg
ENST00000637349.1:c.*220+132A>G (ACY1) ENSP00000489688.1:n.*220+132A>G
ENST00000637460.1:n.738A>G (ACY1)
ENST00000637512.1:c.954A>G (ABHD14A-ACY1)
ENST00000637563.1:c.*1452A>G (ABHD14A-ACY1) ENSP00000490319.1:n.*1452A>G
ENST00000637696.1:c.*1061A>G (ABHD14A-ACY1) ENSP00000490554.1:n.*1061A>G
ENST00000637730.1:c.1237A>G (ABHD14A-ACY1)
ENST00000637778.1:c.*1452A>G (ABHD14A-ACY1) ENSP00000490052.1:n.*1452A>G
ENST00000637978.1:c.1273A>G (ABHD14A-ACY1)
ENST00000638096.1:n.595A>G (ACY1)
ENST00000638136.1:n.1120A>G (ACY1)
ENST00000404366.6:c.704A>G (ACY1) ENSP00000384296.2:p.Gln235Arg
ENST00000463721.5:c.*615A>G (ABHD14A-ACY1) ENSP00000417688.1:n.*615A>G
ENST00000463937.1:c.1007A>G (ABHD14A-ACY1) ENSP00000420487.1:p.Gln336Arg
ENST00000464587.1:n.390A>G (ACY1)
ENST00000465121.5:n.777A>G (ACY1)
ENST00000476351.5:c.599A>G (ACY1) ENSP00000417056.1:p.Gln200Arg
ENST00000476854.5:c.657+132A>G (ACY1) ENSP00000419262.1:n.657+132A>G
ENST00000491318.5:c.584-116A>G (ACY1) ENSP00000418683.1:n.584-116A>G
ENST00000494103.5:c.488A>G (ACY1) ENSP00000417618.1:p.Gln163Arg
NM_000666.2:c.704A>G (ACY1) NP_000657.1:p.Gln235Arg
NM_001198895.1:c.704A>G (ACY1) NP_001185824.1:p.Gln235Arg
NM_001198896.1:c.488A>G (ACY1) NP_001185825.1:p.Gln163Arg
NM_001198897.1:c.657+132A>G (ACY1) NP_001185826.1:n.657+132A>G
NM_001198898.1:c.599A>G (ACY1) NP_001185827.1:p.Gln200Arg
NM_001316331.1:c.974A>G (ABHD14A-ACY1) NP_001303260.1:p.Gln325Arg
NM_000666.3:c.704A>G (ACY1) MANE Select NP_000657.1:p.Gln235Arg
NM_001198895.2:c.704A>G (ACY1) NP_001185824.1:p.Gln235Arg
NM_001198896.2:c.488A>G (ACY1) NP_001185825.1:p.Gln163Arg
NM_001198897.2:c.657+132A>G (ACY1) NP_001185826.1:n.657+132A>G
NM_001198898.2:c.599A>G (ACY1) NP_001185827.1:p.Gln200Arg
NM_001316331.2:c.974A>G (ABHD14A-ACY1) NP_001303260.1:p.Gln325Arg