Canonical Allele Identifier: CA433748857
Gene: ACY1 HGNC NCBI
ABHD14A-ACY1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.52021011G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.51986995G>T , CM000665.2:g.51986995G>T GRCh38
NC_000003.11:g.52021011G>T , CM000665.1:g.52021011G>T GRCh37
NC_000003.10:g.51996051G>T NCBI36
NG_012036.1:g.8449G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000404366.7:c.591G>T (ACY1) ENSP00000384296.2:p.Arg197=
ENST00000464587.2:n.277G>T (ACY1)
ENST00000486081.6:c.*437G>T (ABHD14A-ACY1) ENSP00000420395.1:n.*437G>T
ENST00000635785.1:c.821G>T (ABHD14A-ACY1)
ENST00000635797.1:c.486G>T (ACY1) ENSP00000490007.1:p.Arg162=
ENST00000635937.1:c.*763G>T (ABHD14A-ACY1) ENSP00000489887.1:n.*763G>T
ENST00000635941.1:c.780G>T (ACY1) ENSP00000490309.1:n.780G>T
ENST00000635946.1:c.*863G>T (ABHD14A-ACY1) ENSP00000490284.1:n.*863G>T
ENST00000635951.1:c.*863G>T (ABHD14A-ACY1) ENSP00000490649.1:n.*863G>T
ENST00000635952.1:c.678G>T (ABHD14A-ACY1) ENSP00000490434.1:p.Arg226=
ENST00000636085.1:c.*437G>T (ABHD14A-ACY1) ENSP00000489981.1:n.*437G>T
ENST00000636089.1:c.*928G>T (ABHD14A-ACY1) ENSP00000490657.1:n.*928G>T
ENST00000636358.2:c.591G>T (ACY1) MANE Select ENSP00000490149.1:p.Arg197=
ENST00000636490.1:c.*928G>T (ABHD14A-ACY1) ENSP00000490575.1:n.*928G>T
ENST00000636556.1:c.*536G>T (ACY1) ENSP00000490500.1:n.*536G>T
ENST00000636646.1:c.*828G>T (ABHD14A-ACY1) ENSP00000490688.1:n.*828G>T
ENST00000636660.1:c.469G>T (ABHD14A-ACY1)
ENST00000636718.1:c.*1118G>T (ABHD14A-ACY1) ENSP00000490429.1:n.*1118G>T
ENST00000636826.1:c.*437G>T (ABHD14A-ACY1) ENSP00000489721.1:n.*437G>T
ENST00000636880.1:c.*301G>T (ACY1) ENSP00000489947.1:n.*301G>T
ENST00000636942.1:c.*472G>T (ABHD14A-ACY1) ENSP00000490848.1:n.*472G>T
ENST00000637025.1:c.*627G>T (ABHD14A-ACY1) ENSP00000490236.1:n.*627G>T
ENST00000637130.1:c.*727G>T (ABHD14A-ACY1) ENSP00000490887.1:n.*727G>T
ENST00000637199.1:n.64G>T (ACY1)
ENST00000637209.1:c.*301G>T (ACY1) ENSP00000490708.1:n.*301G>T
ENST00000637222.1:c.591G>T (ABHD14A-ACY1) ENSP00000490353.1:p.Arg197=
ENST00000637251.1:n.1664G>T (ACY1)
ENST00000637349.1:c.*154G>T (ACY1) ENSP00000489688.1:n.*154G>T
ENST00000637460.1:n.625G>T (ACY1)
ENST00000637461.1:c.438G>T (ABHD14A-ACY1)
ENST00000637512.1:c.756G>T (ABHD14A-ACY1)
ENST00000637563.1:c.*1254G>T (ABHD14A-ACY1) ENSP00000490319.1:n.*1254G>T
ENST00000637696.1:c.*863G>T (ABHD14A-ACY1) ENSP00000490554.1:n.*863G>T
ENST00000637730.1:c.1124G>T (ABHD14A-ACY1)
ENST00000637778.1:c.*1254G>T (ABHD14A-ACY1) ENSP00000490052.1:n.*1254G>T
ENST00000637978.1:c.1160G>T (ABHD14A-ACY1)
ENST00000638096.1:n.397G>T (ACY1)
ENST00000638136.1:n.922G>T (ACY1)
ENST00000404366.6:c.591G>T (ACY1) ENSP00000384296.2:p.Arg197=
ENST00000463721.5:c.*502G>T (ABHD14A-ACY1) ENSP00000417688.1:n.*502G>T
ENST00000463937.1:c.894G>T (ABHD14A-ACY1) ENSP00000420487.1:p.Arg298=
ENST00000464587.1:n.277G>T (ACY1)
ENST00000465121.5:n.664G>T (ACY1)
ENST00000469863.1:c.618G>T (ACY1) ENSP00000419830.1:p.Arg206=
ENST00000476351.5:c.486G>T (ACY1) ENSP00000417056.1:p.Arg162=
ENST00000476854.5:c.591G>T (ACY1) ENSP00000419262.1:p.Arg197=
ENST00000491318.5:c.584-314G>T (ACY1) ENSP00000418683.1:n.584-314G>T
ENST00000494103.5:c.375G>T (ACY1) ENSP00000417618.1:p.Arg125=
NM_000666.2:c.591G>T (ACY1) NP_000657.1:p.Arg197=
NM_001198895.1:c.591G>T (ACY1) NP_001185824.1:p.Arg197=
NM_001198896.1:c.375G>T (ACY1) NP_001185825.1:p.Arg125=
NM_001198897.1:c.591G>T (ACY1) NP_001185826.1:p.Arg197=
NM_001198898.1:c.486G>T (ACY1) NP_001185827.1:p.Arg162=
NM_001316331.1:c.861G>T (ABHD14A-ACY1) NP_001303260.1:p.Arg287=
NM_000666.3:c.591G>T (ACY1) MANE Select NP_000657.1:p.Arg197=
NM_001198895.2:c.591G>T (ACY1) NP_001185824.1:p.Arg197=
NM_001198896.2:c.375G>T (ACY1) NP_001185825.1:p.Arg125=
NM_001198897.2:c.591G>T (ACY1) NP_001185826.1:p.Arg197=
NM_001198898.2:c.486G>T (ACY1) NP_001185827.1:p.Arg162=
NM_001316331.2:c.861G>T (ABHD14A-ACY1) NP_001303260.1:p.Arg287=