Canonical Allele Identifier: CA353091142
Gene: ACY1 HGNC NCBI
ABHD14A-ACY1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51987196G>T , CM000665.2:g.51987196G>T GRCh38
NC_000003.11:g.52021212G>T , CM000665.1:g.52021212G>T GRCh37
NC_000003.10:g.51996252G>T NCBI36
NG_012036.1:g.8650G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000404366.7:c.707G>T (ACY1) ENSP00000384296.2:p.Arg236Met
ENST00000464587.2:n.393G>T (ACY1)
ENST00000635785.1:c.887+135G>T (ABHD14A-ACY1)
ENST00000635797.1:c.602G>T (ACY1) ENSP00000490007.1:p.Arg201Met
ENST00000635937.1:c.*964G>T (ABHD14A-ACY1) ENSP00000489887.1:n.*964G>T
ENST00000635941.1:c.981G>T (ACY1) ENSP00000490309.1:n.981G>T
ENST00000635946.1:c.*1064G>T (ABHD14A-ACY1) ENSP00000490284.1:n.*1064G>T
ENST00000635951.1:c.*979G>T (ABHD14A-ACY1) ENSP00000490649.1:n.*979G>T
ENST00000635952.1:c.794G>T (ABHD14A-ACY1)
ENST00000636089.1:c.*1044G>T (ABHD14A-ACY1) ENSP00000490657.1:n.*1044G>T
ENST00000636358.2:c.707G>T (ACY1) MANE Select ENSP00000490149.1:p.Arg236Met
ENST00000636490.1:c.*1044G>T (ABHD14A-ACY1) ENSP00000490575.1:n.*1044G>T
ENST00000636556.1:c.*652G>T (ACY1) ENSP00000490500.1:n.*652G>T
ENST00000636646.1:c.*944G>T (ABHD14A-ACY1) ENSP00000490688.1:n.*944G>T
ENST00000636660.1:c.670G>T (ABHD14A-ACY1)
ENST00000636718.1:c.*1319G>T (ABHD14A-ACY1) ENSP00000490429.1:n.*1319G>T
ENST00000636826.1:c.*638G>T (ABHD14A-ACY1) ENSP00000489721.1:n.*638G>T
ENST00000636880.1:c.*417G>T (ACY1) ENSP00000489947.1:n.*417G>T
ENST00000636942.1:c.*588G>T (ABHD14A-ACY1) ENSP00000490848.1:n.*588G>T
ENST00000637025.1:c.*828G>T (ABHD14A-ACY1) ENSP00000490236.1:n.*828G>T
ENST00000637034.1:n.140G>T (ACY1)
ENST00000637130.1:c.*928G>T (ABHD14A-ACY1) ENSP00000490887.1:n.*928G>T
ENST00000637199.1:n.180G>T (ACY1)
ENST00000637222.1:c.707G>T (ABHD14A-ACY1) ENSP00000490353.1:p.Arg236Met
ENST00000637349.1:c.*220+135G>T (ACY1) ENSP00000489688.1:n.*220+135G>T
ENST00000637460.1:n.741G>T (ACY1)
ENST00000637512.1:c.957G>T (ABHD14A-ACY1)
ENST00000637563.1:c.*1455G>T (ABHD14A-ACY1) ENSP00000490319.1:n.*1455G>T
ENST00000637696.1:c.*1064G>T (ABHD14A-ACY1) ENSP00000490554.1:n.*1064G>T
ENST00000637730.1:c.1240G>T (ABHD14A-ACY1)
ENST00000637778.1:c.*1455G>T (ABHD14A-ACY1) ENSP00000490052.1:n.*1455G>T
ENST00000637978.1:c.1276G>T (ABHD14A-ACY1)
ENST00000638096.1:n.598G>T (ACY1)
ENST00000638136.1:n.1123G>T (ACY1)
ENST00000404366.6:c.707G>T (ACY1) ENSP00000384296.2:p.Arg236Met
ENST00000463721.5:c.*618G>T (ABHD14A-ACY1) ENSP00000417688.1:n.*618G>T
ENST00000463937.1:c.1010G>T (ABHD14A-ACY1) ENSP00000420487.1:p.Arg337Met
ENST00000464587.1:n.393G>T (ACY1)
ENST00000465121.5:n.780G>T (ACY1)
ENST00000476351.5:c.602G>T (ACY1) ENSP00000417056.1:p.Arg201Met
ENST00000476854.5:c.657+135G>T (ACY1) ENSP00000419262.1:n.657+135G>T
ENST00000491318.5:c.584-113G>T (ACY1) ENSP00000418683.1:n.584-113G>T
ENST00000494103.5:c.491G>T (ACY1) ENSP00000417618.1:p.Arg164Met
NM_000666.2:c.707G>T (ACY1) NP_000657.1:p.Arg236Met
NM_001198895.1:c.707G>T (ACY1) NP_001185824.1:p.Arg236Met
NM_001198896.1:c.491G>T (ACY1) NP_001185825.1:p.Arg164Met
NM_001198897.1:c.657+135G>T (ACY1) NP_001185826.1:n.657+135G>T
NM_001198898.1:c.602G>T (ACY1) NP_001185827.1:p.Arg201Met
NM_001316331.1:c.977G>T (ABHD14A-ACY1) NP_001303260.1:p.Arg326Met
NM_000666.3:c.707G>T (ACY1) MANE Select NP_000657.1:p.Arg236Met
NM_001198895.2:c.707G>T (ACY1) NP_001185824.1:p.Arg236Met
NM_001198896.2:c.491G>T (ACY1) NP_001185825.1:p.Arg164Met
NM_001198897.2:c.657+135G>T (ACY1) NP_001185826.1:n.657+135G>T
NM_001198898.2:c.602G>T (ACY1) NP_001185827.1:p.Arg201Met
NM_001316331.2:c.977G>T (ABHD14A-ACY1) NP_001303260.1:p.Arg326Met