Canonical Allele Identifier: CA397394176
Gene: AIPL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425468G>C , CM000679.2:g.6425468G>C GRCh38
NC_000017.10:g.6328788G>C , CM000679.1:g.6328788G>C GRCh37
NC_000017.9:g.6269512G>C NCBI36
NG_008474.1:g.14732C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000381129.8:c.1147C>G MANE Select ENSP00000370521.3:p.Gln383Glu
ENST00000250087.9:c.958C>G ENSP00000250087.5:p.Gln320Glu
ENST00000381128.2:c.*1019C>G ENSP00000370520.2:p.=
ENST00000381129.7:c.1147C>G ENSP00000370521.3:p.Gln383Glu
ENST00000570466.5:c.1081C>G ENSP00000461287.1:p.Gln361Glu
ENST00000570584.5:n.251+8451C>G
ENST00000574506.5:c.1111C>G ENSP00000458456.1:p.Gln371Glu
ENST00000575265.5:c.*1118C>G ENSP00000459673.1:p.=
ENST00000576307.5:c.967C>G ENSP00000459522.1:p.Gln323Glu
ENST00000576776.5:c.1075C>G ENSP00000460827.1:p.Gln359Glu
ENST00000621374.4:c.*165C>G ENSP00000481337.1:p.=
NM_001033054.2:c.958C>G NP_001028226.1:p.Gln320Glu
NM_001033055.2:c.967C>G NP_001028227.1:p.Gln323Glu
NM_001285399.2:c.1111C>G NP_001272328.1:p.Gln371Glu
NM_001285400.2:c.1081C>G NP_001272329.1:p.Gln361Glu
NM_001285401.2:c.1075C>G NP_001272330.1:p.Gln359Glu
NM_001285402.1:c.1030C>G NP_001272331.1:p.Gln344Glu
NM_014336.4:c.1147C>G NP_055151.3:p.Gln383Glu
NM_001033054.3:c.958C>G NP_001028226.1:p.Gln320Glu
NM_001033055.3:c.967C>G NP_001028227.1:p.Gln323Glu
NM_001285399.3:c.1111C>G NP_001272328.1:p.Gln371Glu
NM_001285400.3:c.1081C>G NP_001272329.1:p.Gln361Glu
NM_001285401.3:c.1075C>G NP_001272330.1:p.Gln359Glu
NM_001285402.2:c.1030C>G NP_001272331.1:p.Gln344Glu
NM_001285403.3:c.*1118C>G NP_001272332.1:p.=
NM_014336.5:c.1147C>G MANE Select NP_055151.3:p.Gln383Glu
NM_001285403.4:c.*1118C>G NP_001272332.1:p.=