Canonical Allele Identifier: CA162123283

Gene: ABCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87550493C>A , CM000669.2:g.87550493C>A	GRCh38
NC_000007.13:g.87179809C>A , CM000669.1:g.87179809C>A	GRCh37
NC_000007.12:g.87017745C>A	NCBI36
NG_011513.1:g.167756G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001348946.2:c.1199G>T MANE Select	NP_001335875.1:p.Ser400Ile
ENST00000622132.5:c.1199G>T MANE Select	ENSP00000478255.1:p.Ser400Ile
NM_000927.4:c.1199G>T	NP_000918.2:p.Ser400Ile
NM_000927.5:c.1199G>T	NP_000918.2:p.Ser400Ile
NM_001348944.1:c.1199G>T	NP_001335873.1:p.Ser400Ile
NM_001348944.2:c.1199G>T	NP_001335873.1:p.Ser400Ile
NM_001348945.1:c.1409G>T	NP_001335874.1:p.Ser470Ile
NM_001348945.2:c.1409G>T	NP_001335874.1:p.Ser470Ile
NM_001348946.1:c.1199G>T	NP_001335875.1:p.Ser400Ile
ENST00000265724.7:c.1199G>T	ENSP00000265724.3:p.Ser400Ile
ENST00000265724.8:c.1199G>T	ENSP00000265724.3:p.Ser400Ile
ENST00000543898.5:c.1007G>T	ENSP00000444095.1:p.Ser336Ile
ENST00000622132.4:c.1199G>T	ENSP00000478255.1:p.Ser400Ile