Canonical Allele Identifier: CA368035011

Gene: ABCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87504335C>A , CM000669.2:g.87504335C>A	GRCh38
NC_000007.13:g.87133651C>A , CM000669.1:g.87133651C>A	GRCh37
NC_000007.12:g.86971587C>A	NCBI36
NG_011513.1:g.213914G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001348946.2:c.3751G>T MANE Select	NP_001335875.1:p.Val1251Phe
ENST00000622132.5:c.3751G>T MANE Select	ENSP00000478255.1:p.Val1251Phe
NM_000927.4:c.3751G>T	NP_000918.2:p.Val1251Phe
NM_000927.5:c.3751G>T	NP_000918.2:p.Val1251Phe
NM_001348944.1:c.3751G>T	NP_001335873.1:p.Val1251Phe
NM_001348944.2:c.3751G>T	NP_001335873.1:p.Val1251Phe
NM_001348945.1:c.3961G>T	NP_001335874.1:p.Val1321Phe
NM_001348945.2:c.3961G>T	NP_001335874.1:p.Val1321Phe
NM_001348946.1:c.3751G>T	NP_001335875.1:p.Val1251Phe
ENST00000265724.7:c.3751G>T	ENSP00000265724.3:p.Val1251Phe
ENST00000265724.8:c.3751G>T	ENSP00000265724.3:p.Val1251Phe
ENST00000488737.6:n.1393G>T
ENST00000491360.1:n.360G>T
ENST00000543898.5:c.3559G>T	ENSP00000444095.1:p.Val1187Phe
ENST00000622132.4:c.3751G>T	ENSP00000478255.1:p.Val1251Phe