Canonical Allele Identifier: CA397395261

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6426734C>T , CM000679.2:g.6426734C>T	GRCh38
NC_000017.10:g.6330054C>T , CM000679.1:g.6330054C>T	GRCh37
NC_000017.9:g.6270778C>T	NCBI36
NG_008474.1:g.13466G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014336.5:c.665G>A MANE Select	NP_055151.3:p.Trp222Ter
ENST00000381129.8:c.665G>A MANE Select	ENSP00000370521.3:p.Trp222Ter
NM_001033054.2:c.476G>A	NP_001028226.1:p.Trp159Ter
NM_001033054.3:c.476G>A	NP_001028226.1:p.Trp159Ter
NM_001033055.2:c.485G>A	NP_001028227.1:p.Trp162Ter
NM_001033055.3:c.485G>A	NP_001028227.1:p.Trp162Ter
NM_001285399.2:c.629G>A	NP_001272328.1:p.Trp210Ter
NM_001285399.3:c.629G>A	NP_001272328.1:p.Trp210Ter
NM_001285400.2:c.599G>A	NP_001272329.1:p.Trp200Ter
NM_001285400.3:c.599G>A	NP_001272329.1:p.Trp200Ter
NM_001285401.2:c.643-50G>A	NP_001272330.1:n.643-50G>A
NM_001285401.3:c.643-50G>A	NP_001272330.1:n.643-50G>A
NM_001285402.1:c.548G>A	NP_001272331.1:p.Trp183Ter
NM_001285402.2:c.548G>A	NP_001272331.1:p.Trp183Ter
NM_001285403.2:c.641G>A	NP_001272332.1:p.Trp214Ter
NM_001285403.3:c.641G>A	NP_001272332.1:p.Trp214Ter
NM_001285403.4:c.641G>A	NP_001272332.1:p.Trp214Ter
NM_014336.4:c.665G>A	NP_055151.3:p.Trp222Ter
ENST00000250087.9:c.476G>A	ENSP00000250087.5:p.Trp159Ter
ENST00000381128.2:c.*537G>A	ENSP00000370520.2:n.*537G>A
ENST00000381129.7:c.665G>A	ENSP00000370521.3:p.Trp222Ter
ENST00000570466.5:c.599G>A	ENSP00000461287.1:p.Trp200Ter
ENST00000570584.5:c.251+7185G>A
ENST00000571740.5:c.641G>A	ENSP00000460134.1:p.Trp214Ter
ENST00000574506.5:c.629G>A	ENSP00000458456.1:p.Trp210Ter
ENST00000575265.5:c.665G>A	ENSP00000459673.1:p.Trp222Ter
ENST00000576307.5:c.485G>A	ENSP00000459522.1:p.Trp162Ter
ENST00000576776.5:c.643-50G>A	ENSP00000460827.1:n.643-50G>A
ENST00000621374.4:c.665G>A	ENSP00000481337.1:p.Trp222Ter