Canonical Allele Identifier: CA397394180
Gene: AIPL1 HGNC NCBI

Linked Data

gnomAD v4: 17-6425471-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425471G>T , CM000679.2:g.6425471G>T GRCh38
NC_000017.10:g.6328791G>T , CM000679.1:g.6328791G>T GRCh37
NC_000017.9:g.6269515G>T NCBI36
NG_008474.1:g.14729C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000381129.8:c.1144C>A MANE Select ENSP00000370521.3:p.Leu382Met
ENST00000250087.9:c.955C>A ENSP00000250087.5:p.Leu319Met
ENST00000381128.2:c.*1016C>A ENSP00000370520.2:n.*1016C>A
ENST00000381129.7:c.1144C>A ENSP00000370521.3:p.Leu382Met
ENST00000570466.5:c.1078C>A ENSP00000461287.1:p.Leu360Met
ENST00000570584.5:c.251+8448C>A
ENST00000574506.5:c.1108C>A ENSP00000458456.1:p.Leu370Met
ENST00000575265.5:c.*1115C>A ENSP00000459673.1:n.*1115C>A
ENST00000576307.5:c.964C>A ENSP00000459522.1:p.Leu322Met
ENST00000576776.5:c.1072C>A ENSP00000460827.1:p.Leu358Met
ENST00000621374.4:c.*162C>A ENSP00000481337.1:n.*162C>A
NM_001033054.2:c.955C>A NP_001028226.1:p.Leu319Met
NM_001033055.2:c.964C>A NP_001028227.1:p.Leu322Met
NM_001285399.2:c.1108C>A NP_001272328.1:p.Leu370Met
NM_001285400.2:c.1078C>A NP_001272329.1:p.Leu360Met
NM_001285401.2:c.1072C>A NP_001272330.1:p.Leu358Met
NM_001285402.1:c.1027C>A NP_001272331.1:p.Leu343Met
NM_014336.4:c.1144C>A NP_055151.3:p.Leu382Met
NM_001033054.3:c.955C>A NP_001028226.1:p.Leu319Met
NM_001033055.3:c.964C>A NP_001028227.1:p.Leu322Met
NM_001285399.3:c.1108C>A NP_001272328.1:p.Leu370Met
NM_001285400.3:c.1078C>A NP_001272329.1:p.Leu360Met
NM_001285401.3:c.1072C>A NP_001272330.1:p.Leu358Met
NM_001285402.2:c.1027C>A NP_001272331.1:p.Leu343Met
NM_001285403.3:c.*1115C>A NP_001272332.1:n.*1115C>A
NM_014336.5:c.1144C>A MANE Select NP_055151.3:p.Leu382Met
NM_001285403.4:c.*1115C>A NP_001272332.1:n.*1115C>A