Canonical Allele Identifier: CA397394369

Gene: AIPL1

Linked Data

• MyVariant Identifiers: chr17:g.6328890C>A (hg19) ; chr17:g.6425570C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425570C>A , CM000679.2:g.6425570C>A	GRCh38
NC_000017.10:g.6328890C>A , CM000679.1:g.6328890C>A	GRCh37
NC_000017.9:g.6269614C>A	NCBI36
NG_008474.1:g.14630G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381129.8:c.1045G>T MANE Select	ENSP00000370521.3:p.Glu349Ter
ENST00000250087.9:c.856G>T	ENSP00000250087.5:p.Glu286Ter
ENST00000381128.2:c.*917G>T	ENSP00000370520.2:n.*917G>T
ENST00000381129.7:c.1045G>T	ENSP00000370521.3:p.Glu349Ter
ENST00000570466.5:c.979G>T	ENSP00000461287.1:p.Glu327Ter
ENST00000570584.5:c.251+8349G>T
ENST00000574506.5:c.1009G>T	ENSP00000458456.1:p.Glu337Ter
ENST00000575265.5:c.*1016G>T	ENSP00000459673.1:n.*1016G>T
ENST00000576307.5:c.865G>T	ENSP00000459522.1:p.Glu289Ter
ENST00000576776.5:c.973G>T	ENSP00000460827.1:p.Glu325Ter
ENST00000621374.4:c.*63G>T	ENSP00000481337.1:n.*63G>T
NM_001033054.2:c.856G>T	NP_001028226.1:p.Glu286Ter
NM_001033055.2:c.865G>T	NP_001028227.1:p.Glu289Ter
NM_001285399.2:c.1009G>T	NP_001272328.1:p.Glu337Ter
NM_001285400.2:c.979G>T	NP_001272329.1:p.Glu327Ter
NM_001285401.2:c.973G>T	NP_001272330.1:p.Glu325Ter
NM_001285402.1:c.928G>T	NP_001272331.1:p.Glu310Ter
NM_014336.4:c.1045G>T	NP_055151.3:p.Glu349Ter
NM_001033054.3:c.856G>T	NP_001028226.1:p.Glu286Ter
NM_001033055.3:c.865G>T	NP_001028227.1:p.Glu289Ter
NM_001285399.3:c.1009G>T	NP_001272328.1:p.Glu337Ter
NM_001285400.3:c.979G>T	NP_001272329.1:p.Glu327Ter
NM_001285401.3:c.973G>T	NP_001272330.1:p.Glu325Ter
NM_001285402.2:c.928G>T	NP_001272331.1:p.Glu310Ter
NM_001285403.3:c.*1016G>T	NP_001272332.1:n.*1016G>T
NM_014336.5:c.1045G>T MANE Select	NP_055151.3:p.Glu349Ter
NM_001285403.4:c.*1016G>T	NP_001272332.1:n.*1016G>T