Canonical Allele Identifier: CA497585334

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6434059G>T , CM000679.2:g.6434059G>T	GRCh38
NC_000017.10:g.6337379G>T , CM000679.1:g.6337379G>T	GRCh37
NC_000017.9:g.6278103G>T	NCBI36
NG_008474.1:g.6141C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014336.5:c.136C>A MANE Select	NP_055151.3:p.Arg46=
ENST00000381129.8:c.136C>A MANE Select	ENSP00000370521.3:p.Arg46=
NM_001033054.2:c.136C>A	NP_001028226.1:p.Arg46=
NM_001033054.3:c.136C>A	NP_001028226.1:p.Arg46=
NM_001033055.2:c.96+950C>A	NP_001028227.1:n.96+950C>A
NM_001033055.3:c.96+950C>A	NP_001028227.1:n.96+950C>A
NM_001285399.2:c.100C>A	NP_001272328.1:p.Arg34=
NM_001285399.3:c.100C>A	NP_001272328.1:p.Arg34=
NM_001285400.2:c.97-27C>A	NP_001272329.1:n.97-27C>A
NM_001285400.3:c.97-27C>A	NP_001272329.1:n.97-27C>A
NM_001285401.2:c.136C>A	NP_001272330.1:p.Arg46=
NM_001285401.3:c.136C>A	NP_001272330.1:p.Arg46=
NM_001285402.1:c.19C>A	NP_001272331.1:p.Arg7=
NM_001285402.2:c.19C>A	NP_001272331.1:p.Arg7=
NM_001285403.2:c.136C>A	NP_001272332.1:p.Arg46=
NM_001285403.3:c.136C>A	NP_001272332.1:p.Arg46=
NM_001285403.4:c.136C>A	NP_001272332.1:p.Arg46=
NM_014336.4:c.136C>A	NP_055151.3:p.Arg46=
ENST00000250087.9:c.136C>A	ENSP00000250087.5:p.Arg46=
ENST00000381128.2:c.*8C>A	ENSP00000370520.2:n.*8C>A
ENST00000381129.7:c.136C>A	ENSP00000370521.3:p.Arg46=
ENST00000570466.5:c.97-27C>A	ENSP00000461287.1:n.97-27C>A
ENST00000570584.5:c.111C>A
ENST00000571740.5:c.136C>A	ENSP00000460134.1:p.Arg46=
ENST00000574506.5:c.100C>A	ENSP00000458456.1:p.Arg34=
ENST00000574913.1:c.136C>A	ENSP00000460672.1:p.Arg46=
ENST00000575265.5:c.136C>A	ENSP00000459673.1:p.Arg46=
ENST00000576307.5:c.96+950C>A	ENSP00000459522.1:n.96+950C>A
ENST00000576776.5:c.136C>A	ENSP00000460827.1:p.Arg46=
ENST00000621374.4:c.136C>A	ENSP00000481337.1:p.Arg46=