Canonical Allele Identifier: CA397394639
Gene: AIPL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425689T>C , CM000679.2:g.6425689T>C GRCh38
NC_000017.10:g.6329009T>C , CM000679.1:g.6329009T>C GRCh37
NC_000017.9:g.6269733T>C NCBI36
NG_008474.1:g.14511A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000381129.8:c.926A>G MANE Select ENSP00000370521.3:p.Glu309Gly
ENST00000250087.9:c.737A>G ENSP00000250087.5:p.Glu246Gly
ENST00000381128.2:c.*798A>G ENSP00000370520.2:n.*798A>G
ENST00000381129.7:c.926A>G ENSP00000370521.3:p.Glu309Gly
ENST00000570466.5:c.860A>G ENSP00000461287.1:p.Glu287Gly
ENST00000570584.5:c.251+8230A>G
ENST00000574506.5:c.890A>G ENSP00000458456.1:p.Glu297Gly
ENST00000575265.5:c.*897A>G ENSP00000459673.1:n.*897A>G
ENST00000576307.5:c.746A>G ENSP00000459522.1:p.Glu249Gly
ENST00000576776.5:c.854A>G ENSP00000460827.1:p.Glu285Gly
ENST00000621374.4:c.926A>G ENSP00000481337.1:p.Glu309Gly
NM_001033054.2:c.737A>G NP_001028226.1:p.Glu246Gly
NM_001033055.2:c.746A>G NP_001028227.1:p.Glu249Gly
NM_001285399.2:c.890A>G NP_001272328.1:p.Glu297Gly
NM_001285400.2:c.860A>G NP_001272329.1:p.Glu287Gly
NM_001285401.2:c.854A>G NP_001272330.1:p.Glu285Gly
NM_001285402.1:c.809A>G NP_001272331.1:p.Glu270Gly
NM_014336.4:c.926A>G NP_055151.3:p.Glu309Gly
NM_001033054.3:c.737A>G NP_001028226.1:p.Glu246Gly
NM_001033055.3:c.746A>G NP_001028227.1:p.Glu249Gly
NM_001285399.3:c.890A>G NP_001272328.1:p.Glu297Gly
NM_001285400.3:c.860A>G NP_001272329.1:p.Glu287Gly
NM_001285401.3:c.854A>G NP_001272330.1:p.Glu285Gly
NM_001285402.2:c.809A>G NP_001272331.1:p.Glu270Gly
NM_001285403.3:c.*897A>G NP_001272332.1:n.*897A>G
NM_014336.5:c.926A>G MANE Select NP_055151.3:p.Glu309Gly
NM_001285403.4:c.*897A>G NP_001272332.1:n.*897A>G