Canonical Allele Identifier: CA397394188
Gene: AIPL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425476T>A , CM000679.2:g.6425476T>A GRCh38
NC_000017.10:g.6328796T>A , CM000679.1:g.6328796T>A GRCh37
NC_000017.9:g.6269520T>A NCBI36
NG_008474.1:g.14724A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000381129.8:c.1139A>T MANE Select ENSP00000370521.3:p.His380Leu
ENST00000250087.9:c.950A>T ENSP00000250087.5:p.His317Leu
ENST00000381128.2:c.*1011A>T ENSP00000370520.2:p.=
ENST00000381129.7:c.1139A>T ENSP00000370521.3:p.His380Leu
ENST00000570466.5:c.1073A>T ENSP00000461287.1:p.His358Leu
ENST00000570584.5:n.251+8443A>T
ENST00000574506.5:c.1103A>T ENSP00000458456.1:p.His368Leu
ENST00000575265.5:c.*1110A>T ENSP00000459673.1:p.=
ENST00000576307.5:c.959A>T ENSP00000459522.1:p.His320Leu
ENST00000576776.5:c.1067A>T ENSP00000460827.1:p.His356Leu
ENST00000621374.4:c.*157A>T ENSP00000481337.1:p.=
NM_001033054.2:c.950A>T NP_001028226.1:p.His317Leu
NM_001033055.2:c.959A>T NP_001028227.1:p.His320Leu
NM_001285399.2:c.1103A>T NP_001272328.1:p.His368Leu
NM_001285400.2:c.1073A>T NP_001272329.1:p.His358Leu
NM_001285401.2:c.1067A>T NP_001272330.1:p.His356Leu
NM_001285402.1:c.1022A>T NP_001272331.1:p.His341Leu
NM_014336.4:c.1139A>T NP_055151.3:p.His380Leu
NM_001033054.3:c.950A>T NP_001028226.1:p.His317Leu
NM_001033055.3:c.959A>T NP_001028227.1:p.His320Leu
NM_001285399.3:c.1103A>T NP_001272328.1:p.His368Leu
NM_001285400.3:c.1073A>T NP_001272329.1:p.His358Leu
NM_001285401.3:c.1067A>T NP_001272330.1:p.His356Leu
NM_001285402.2:c.1022A>T NP_001272331.1:p.His341Leu
NM_001285403.3:c.*1110A>T NP_001272332.1:p.=
NM_014336.5:c.1139A>T MANE Select NP_055151.3:p.His380Leu
NM_001285403.4:c.*1110A>T NP_001272332.1:p.=