Canonical Allele Identifier: CA397394194
Gene: AIPL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425479C>A , CM000679.2:g.6425479C>A GRCh38
NC_000017.10:g.6328799C>A , CM000679.1:g.6328799C>A GRCh37
NC_000017.9:g.6269523C>A NCBI36
NG_008474.1:g.14721G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000381129.8:c.1136G>T MANE Select ENSP00000370521.3:p.Gly379Val
ENST00000250087.9:c.947G>T ENSP00000250087.5:p.Gly316Val
ENST00000381128.2:c.*1008G>T ENSP00000370520.2:n.*1008G>T
ENST00000381129.7:c.1136G>T ENSP00000370521.3:p.Gly379Val
ENST00000570466.5:c.1070G>T ENSP00000461287.1:p.Gly357Val
ENST00000570584.5:c.251+8440G>T
ENST00000574506.5:c.1100G>T ENSP00000458456.1:p.Gly367Val
ENST00000575265.5:c.*1107G>T ENSP00000459673.1:n.*1107G>T
ENST00000576307.5:c.956G>T ENSP00000459522.1:p.Gly319Val
ENST00000576776.5:c.1064G>T ENSP00000460827.1:p.Gly355Val
ENST00000621374.4:c.*154G>T ENSP00000481337.1:n.*154G>T
NM_001033054.2:c.947G>T NP_001028226.1:p.Gly316Val
NM_001033055.2:c.956G>T NP_001028227.1:p.Gly319Val
NM_001285399.2:c.1100G>T NP_001272328.1:p.Gly367Val
NM_001285400.2:c.1070G>T NP_001272329.1:p.Gly357Val
NM_001285401.2:c.1064G>T NP_001272330.1:p.Gly355Val
NM_001285402.1:c.1019G>T NP_001272331.1:p.Gly340Val
NM_014336.4:c.1136G>T NP_055151.3:p.Gly379Val
NM_001033054.3:c.947G>T NP_001028226.1:p.Gly316Val
NM_001033055.3:c.956G>T NP_001028227.1:p.Gly319Val
NM_001285399.3:c.1100G>T NP_001272328.1:p.Gly367Val
NM_001285400.3:c.1070G>T NP_001272329.1:p.Gly357Val
NM_001285401.3:c.1064G>T NP_001272330.1:p.Gly355Val
NM_001285402.2:c.1019G>T NP_001272331.1:p.Gly340Val
NM_001285403.3:c.*1107G>T NP_001272332.1:n.*1107G>T
NM_014336.5:c.1136G>T MANE Select NP_055151.3:p.Gly379Val
NM_001285403.4:c.*1107G>T NP_001272332.1:n.*1107G>T