Canonical Allele Identifier: CA397395319

Gene: AIPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6426758T>A , CM000679.2:g.6426758T>A	GRCh38
NC_000017.10:g.6330078T>A , CM000679.1:g.6330078T>A	GRCh37
NC_000017.9:g.6270802T>A	NCBI36
NG_008474.1:g.13442A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014336.5:c.643-2A>T MANE Select	NP_055151.3:n.643-2A>T
ENST00000381129.8:c.643-2A>T MANE Select	ENSP00000370521.3:n.643-2A>T
NM_001033054.2:c.454-2A>T	NP_001028226.1:n.454-2A>T
NM_001033054.3:c.454-2A>T	NP_001028226.1:n.454-2A>T
NM_001033055.2:c.463-2A>T	NP_001028227.1:n.463-2A>T
NM_001033055.3:c.463-2A>T	NP_001028227.1:n.463-2A>T
NM_001285399.2:c.607-2A>T	NP_001272328.1:n.607-2A>T
NM_001285399.3:c.607-2A>T	NP_001272328.1:n.607-2A>T
NM_001285400.2:c.577-2A>T	NP_001272329.1:n.577-2A>T
NM_001285400.3:c.577-2A>T	NP_001272329.1:n.577-2A>T
NM_001285401.2:c.643-74A>T	NP_001272330.1:n.643-74A>T
NM_001285401.3:c.643-74A>T	NP_001272330.1:n.643-74A>T
NM_001285402.1:c.526-2A>T	NP_001272331.1:n.526-2A>T
NM_001285402.2:c.526-2A>T	NP_001272331.1:n.526-2A>T
NM_001285403.2:c.619-2A>T	NP_001272332.1:n.619-2A>T
NM_001285403.3:c.619-2A>T	NP_001272332.1:n.619-2A>T
NM_001285403.4:c.619-2A>T	NP_001272332.1:n.619-2A>T
NM_014336.4:c.643-2A>T	NP_055151.3:n.643-2A>T
ENST00000250087.9:c.454-2A>T	ENSP00000250087.5:n.454-2A>T
ENST00000381128.2:c.*515-2A>T	ENSP00000370520.2:n.*515-2A>T
ENST00000381129.7:c.643-2A>T	ENSP00000370521.3:n.643-2A>T
ENST00000570466.5:c.577-2A>T	ENSP00000461287.1:n.577-2A>T
ENST00000570584.5:c.251+7161A>T
ENST00000571740.5:c.619-2A>T	ENSP00000460134.1:n.619-2A>T
ENST00000574506.5:c.607-2A>T	ENSP00000458456.1:n.607-2A>T
ENST00000575265.5:c.643-2A>T	ENSP00000459673.1:n.643-2A>T
ENST00000576307.5:c.463-2A>T	ENSP00000459522.1:n.463-2A>T
ENST00000576776.5:c.643-74A>T	ENSP00000460827.1:n.643-74A>T
ENST00000621374.4:c.643-2A>T	ENSP00000481337.1:n.643-2A>T