Canonical Allele Identifier: CA497687450

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6425772G>A , CM000679.2:g.6425772G>A	GRCh38
NC_000017.10:g.6329092G>A , CM000679.1:g.6329092G>A	GRCh37
NC_000017.9:g.6269816G>A	NCBI36
NG_008474.1:g.14428C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014336.5:c.843C>T MANE Select	NP_055151.3:p.Ala281=
ENST00000381129.8:c.843C>T MANE Select	ENSP00000370521.3:p.Ala281=
NM_001033054.2:c.654C>T	NP_001028226.1:p.Ala218=
NM_001033054.3:c.654C>T	NP_001028226.1:p.Ala218=
NM_001033055.2:c.663C>T	NP_001028227.1:p.Ala221=
NM_001033055.3:c.663C>T	NP_001028227.1:p.Ala221=
NM_001285399.2:c.807C>T	NP_001272328.1:p.Ala269=
NM_001285399.3:c.807C>T	NP_001272328.1:p.Ala269=
NM_001285400.2:c.777C>T	NP_001272329.1:p.Ala259=
NM_001285400.3:c.777C>T	NP_001272329.1:p.Ala259=
NM_001285401.2:c.771C>T	NP_001272330.1:p.Ala257=
NM_001285401.3:c.771C>T	NP_001272330.1:p.Ala257=
NM_001285402.1:c.726C>T	NP_001272331.1:p.Ala242=
NM_001285402.2:c.726C>T	NP_001272331.1:p.Ala242=
NM_001285403.3:c.*814C>T	NP_001272332.1:n.*814C>T
NM_001285403.4:c.*814C>T	NP_001272332.1:n.*814C>T
NM_014336.4:c.843C>T	NP_055151.3:p.Ala281=
ENST00000250087.9:c.654C>T	ENSP00000250087.5:p.Ala218=
ENST00000381128.2:c.*715C>T	ENSP00000370520.2:n.*715C>T
ENST00000381129.7:c.843C>T	ENSP00000370521.3:p.Ala281=
ENST00000570466.5:c.777C>T	ENSP00000461287.1:p.Ala259=
ENST00000570584.5:c.251+8147C>T
ENST00000574506.5:c.807C>T	ENSP00000458456.1:p.Ala269=
ENST00000575265.5:c.*814C>T	ENSP00000459673.1:n.*814C>T
ENST00000576307.5:c.663C>T	ENSP00000459522.1:p.Ala221=
ENST00000576776.5:c.771C>T	ENSP00000460827.1:p.Ala257=
ENST00000621374.4:c.843C>T	ENSP00000481337.1:p.Ala281=