Canonical Allele Identifier: CA368043333

Gene: ABCB1

Linked Data

• MyVariant Identifiers: chr7:g.87144549C>A (hg19) ; chr7:g.87515233C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87515233C>A , CM000669.2:g.87515233C>A	GRCh38
NC_000007.13:g.87144549C>A , CM000669.1:g.87144549C>A	GRCh37
NC_000007.12:g.86982485C>A	NCBI36
NG_011513.1:g.203016G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.3280G>T	ENSP00000265724.3:p.Val1094Leu
ENST00000622132.5:c.3280G>T MANE Select	ENSP00000478255.1:p.Val1094Leu
ENST00000265724.7:c.3280G>T	ENSP00000265724.3:p.Val1094Leu
ENST00000475929.5:n.436G>T
ENST00000488737.6:n.922G>T
ENST00000496821.5:n.908G>T
ENST00000543898.5:c.3088G>T	ENSP00000444095.1:p.Val1030Leu
ENST00000622132.4:c.3280G>T	ENSP00000478255.1:p.Val1094Leu
NM_000927.4:c.3280G>T	NP_000918.2:p.Val1094Leu
NM_001348944.1:c.3280G>T	NP_001335873.1:p.Val1094Leu
NM_001348945.1:c.3490G>T	NP_001335874.1:p.Val1164Leu
NM_001348946.1:c.3280G>T	NP_001335875.1:p.Val1094Leu
NM_001348946.2:c.3280G>T MANE Select	NP_001335875.1:p.Val1094Leu
NM_000927.5:c.3280G>T	NP_000918.2:p.Val1094Leu
NM_001348944.2:c.3280G>T	NP_001335873.1:p.Val1094Leu
NM_001348945.2:c.3490G>T	NP_001335874.1:p.Val1164Leu