Canonical Allele Identifier: CA353091069
Gene: ACY1 HGNC NCBI
ABHD14A-ACY1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51987184A>G , CM000665.2:g.51987184A>G GRCh38
NC_000003.11:g.52021200A>G , CM000665.1:g.52021200A>G GRCh37
NC_000003.10:g.51996240A>G NCBI36
NG_012036.1:g.8638A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000404366.7:c.695A>G (ACY1) ENSP00000384296.2:p.Lys232Arg
ENST00000464587.2:n.381A>G (ACY1)
ENST00000486081.6:c.*541A>G (ABHD14A-ACY1) ENSP00000420395.1:n.*541A>G
ENST00000635785.1:c.887+123A>G (ABHD14A-ACY1)
ENST00000635797.1:c.590A>G (ACY1) ENSP00000490007.1:p.Lys197Arg
ENST00000635937.1:c.*952A>G (ABHD14A-ACY1) ENSP00000489887.1:n.*952A>G
ENST00000635941.1:c.969A>G (ACY1) ENSP00000490309.1:n.969A>G
ENST00000635946.1:c.*1052A>G (ABHD14A-ACY1) ENSP00000490284.1:n.*1052A>G
ENST00000635951.1:c.*967A>G (ABHD14A-ACY1) ENSP00000490649.1:n.*967A>G
ENST00000635952.1:c.782A>G (ABHD14A-ACY1) ENSP00000490434.1:p.Lys261Arg
ENST00000636089.1:c.*1032A>G (ABHD14A-ACY1) ENSP00000490657.1:n.*1032A>G
ENST00000636358.2:c.695A>G (ACY1) MANE Select ENSP00000490149.1:p.Lys232Arg
ENST00000636490.1:c.*1032A>G (ABHD14A-ACY1) ENSP00000490575.1:n.*1032A>G
ENST00000636556.1:c.*640A>G (ACY1) ENSP00000490500.1:n.*640A>G
ENST00000636646.1:c.*932A>G (ABHD14A-ACY1) ENSP00000490688.1:n.*932A>G
ENST00000636660.1:c.658A>G (ABHD14A-ACY1)
ENST00000636718.1:c.*1307A>G (ABHD14A-ACY1) ENSP00000490429.1:n.*1307A>G
ENST00000636826.1:c.*626A>G (ABHD14A-ACY1) ENSP00000489721.1:n.*626A>G
ENST00000636880.1:c.*405A>G (ACY1) ENSP00000489947.1:n.*405A>G
ENST00000636942.1:c.*576A>G (ABHD14A-ACY1) ENSP00000490848.1:n.*576A>G
ENST00000637025.1:c.*816A>G (ABHD14A-ACY1) ENSP00000490236.1:n.*816A>G
ENST00000637034.1:n.128A>G (ACY1)
ENST00000637130.1:c.*916A>G (ABHD14A-ACY1) ENSP00000490887.1:n.*916A>G
ENST00000637199.1:n.168A>G (ACY1)
ENST00000637222.1:c.695A>G (ABHD14A-ACY1) ENSP00000490353.1:p.Lys232Arg
ENST00000637349.1:c.*220+123A>G (ACY1) ENSP00000489688.1:n.*220+123A>G
ENST00000637460.1:n.729A>G (ACY1)
ENST00000637512.1:c.945A>G (ABHD14A-ACY1)
ENST00000637563.1:c.*1443A>G (ABHD14A-ACY1) ENSP00000490319.1:n.*1443A>G
ENST00000637696.1:c.*1052A>G (ABHD14A-ACY1) ENSP00000490554.1:n.*1052A>G
ENST00000637730.1:c.1228A>G (ABHD14A-ACY1)
ENST00000637778.1:c.*1443A>G (ABHD14A-ACY1) ENSP00000490052.1:n.*1443A>G
ENST00000637978.1:c.1264A>G (ABHD14A-ACY1)
ENST00000638096.1:n.586A>G (ACY1)
ENST00000638136.1:n.1111A>G (ACY1)
ENST00000404366.6:c.695A>G (ACY1) ENSP00000384296.2:p.Lys232Arg
ENST00000463721.5:c.*606A>G (ABHD14A-ACY1) ENSP00000417688.1:n.*606A>G
ENST00000463937.1:c.998A>G (ABHD14A-ACY1) ENSP00000420487.1:p.Lys333Arg
ENST00000464587.1:n.381A>G (ACY1)
ENST00000465121.5:n.768A>G (ACY1)
ENST00000476351.5:c.590A>G (ACY1) ENSP00000417056.1:p.Lys197Arg
ENST00000476854.5:c.657+123A>G (ACY1) ENSP00000419262.1:n.657+123A>G
ENST00000491318.5:c.584-125A>G (ACY1) ENSP00000418683.1:n.584-125A>G
ENST00000494103.5:c.479A>G (ACY1) ENSP00000417618.1:p.Lys160Arg
NM_000666.2:c.695A>G (ACY1) NP_000657.1:p.Lys232Arg
NM_001198895.1:c.695A>G (ACY1) NP_001185824.1:p.Lys232Arg
NM_001198896.1:c.479A>G (ACY1) NP_001185825.1:p.Lys160Arg
NM_001198897.1:c.657+123A>G (ACY1) NP_001185826.1:n.657+123A>G
NM_001198898.1:c.590A>G (ACY1) NP_001185827.1:p.Lys197Arg
NM_001316331.1:c.965A>G (ABHD14A-ACY1) NP_001303260.1:p.Lys322Arg
NM_000666.3:c.695A>G (ACY1) MANE Select NP_000657.1:p.Lys232Arg
NM_001198895.2:c.695A>G (ACY1) NP_001185824.1:p.Lys232Arg
NM_001198896.2:c.479A>G (ACY1) NP_001185825.1:p.Lys160Arg
NM_001198897.2:c.657+123A>G (ACY1) NP_001185826.1:n.657+123A>G
NM_001198898.2:c.590A>G (ACY1) NP_001185827.1:p.Lys197Arg
NM_001316331.2:c.965A>G (ABHD14A-ACY1) NP_001303260.1:p.Lys322Arg