Canonical Allele Identifier: CA397394162
Gene: AIPL1 HGNC NCBI

Linked Data

gnomAD v4: 17-6425463-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6425463G>T , CM000679.2:g.6425463G>T GRCh38
NC_000017.10:g.6328783G>T , CM000679.1:g.6328783G>T GRCh37
NC_000017.9:g.6269507G>T NCBI36
NG_008474.1:g.14737C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000381129.8:c.1152C>A MANE Select ENSP00000370521.3:p.His384Gln
ENST00000250087.9:c.963C>A ENSP00000250087.5:p.His321Gln
ENST00000381128.2:c.*1024C>A ENSP00000370520.2:n.*1024C>A
ENST00000381129.7:c.1152C>A ENSP00000370521.3:p.His384Gln
ENST00000570466.5:c.1086C>A ENSP00000461287.1:p.His362Gln
ENST00000570584.5:c.251+8456C>A
ENST00000574506.5:c.1116C>A ENSP00000458456.1:p.His372Gln
ENST00000575265.5:c.*1123C>A ENSP00000459673.1:n.*1123C>A
ENST00000576307.5:c.972C>A ENSP00000459522.1:p.His324Gln
ENST00000576776.5:c.1080C>A ENSP00000460827.1:p.His360Gln
ENST00000621374.4:c.*170C>A ENSP00000481337.1:n.*170C>A
NM_001033054.2:c.963C>A NP_001028226.1:p.His321Gln
NM_001033055.2:c.972C>A NP_001028227.1:p.His324Gln
NM_001285399.2:c.1116C>A NP_001272328.1:p.His372Gln
NM_001285400.2:c.1086C>A NP_001272329.1:p.His362Gln
NM_001285401.2:c.1080C>A NP_001272330.1:p.His360Gln
NM_001285402.1:c.1035C>A NP_001272331.1:p.His345Gln
NM_014336.4:c.1152C>A NP_055151.3:p.His384Gln
NM_001033054.3:c.963C>A NP_001028226.1:p.His321Gln
NM_001033055.3:c.972C>A NP_001028227.1:p.His324Gln
NM_001285399.3:c.1116C>A NP_001272328.1:p.His372Gln
NM_001285400.3:c.1086C>A NP_001272329.1:p.His362Gln
NM_001285401.3:c.1080C>A NP_001272330.1:p.His360Gln
NM_001285402.2:c.1035C>A NP_001272331.1:p.His345Gln
NM_001285403.3:c.*1123C>A NP_001272332.1:n.*1123C>A
NM_014336.5:c.1152C>A MANE Select NP_055151.3:p.His384Gln
NM_001285403.4:c.*1123C>A NP_001272332.1:n.*1123C>A