Canonical Allele Identifier: CA397394178
Gene: AIPL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 852446
ClinVar RCV Id: RCV001057055

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425470A>T , CM000679.2:g.6425470A>T GRCh38
NC_000017.10:g.6328790A>T , CM000679.1:g.6328790A>T GRCh37
NC_000017.9:g.6269514A>T NCBI36
NG_008474.1:g.14730T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000381129.8:c.1145T>A MANE Select ENSP00000370521.3:p.Leu382Gln
ENST00000250087.9:c.956T>A ENSP00000250087.5:p.Leu319Gln
ENST00000381128.2:c.*1017T>A ENSP00000370520.2:p.=
ENST00000381129.7:c.1145T>A ENSP00000370521.3:p.Leu382Gln
ENST00000570466.5:c.1079T>A ENSP00000461287.1:p.Leu360Gln
ENST00000570584.5:n.251+8449T>A
ENST00000574506.5:c.1109T>A ENSP00000458456.1:p.Leu370Gln
ENST00000575265.5:c.*1116T>A ENSP00000459673.1:p.=
ENST00000576307.5:c.965T>A ENSP00000459522.1:p.Leu322Gln
ENST00000576776.5:c.1073T>A ENSP00000460827.1:p.Leu358Gln
ENST00000621374.4:c.*163T>A ENSP00000481337.1:p.=
NM_001033054.2:c.956T>A NP_001028226.1:p.Leu319Gln
NM_001033055.2:c.965T>A NP_001028227.1:p.Leu322Gln
NM_001285399.2:c.1109T>A NP_001272328.1:p.Leu370Gln
NM_001285400.2:c.1079T>A NP_001272329.1:p.Leu360Gln
NM_001285401.2:c.1073T>A NP_001272330.1:p.Leu358Gln
NM_001285402.1:c.1028T>A NP_001272331.1:p.Leu343Gln
NM_014336.4:c.1145T>A NP_055151.3:p.Leu382Gln
NM_001033054.3:c.956T>A NP_001028226.1:p.Leu319Gln
NM_001033055.3:c.965T>A NP_001028227.1:p.Leu322Gln
NM_001285399.3:c.1109T>A NP_001272328.1:p.Leu370Gln
NM_001285400.3:c.1079T>A NP_001272329.1:p.Leu360Gln
NM_001285401.3:c.1073T>A NP_001272330.1:p.Leu358Gln
NM_001285402.2:c.1028T>A NP_001272331.1:p.Leu343Gln
NM_001285403.3:c.*1116T>A NP_001272332.1:p.=
NM_014336.5:c.1145T>A MANE Select NP_055151.3:p.Leu382Gln
NM_001285403.4:c.*1116T>A NP_001272332.1:p.=