Canonical Allele Identifier: CA368047538

Gene: ABCB1

Linked Data

• MyVariant Identifiers: chr7:g.87145968C>A (hg19) ; chr7:g.87516652C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87516652C>A , CM000669.2:g.87516652C>A	GRCh38
NC_000007.13:g.87145968C>A , CM000669.1:g.87145968C>A	GRCh37
NC_000007.12:g.86983904C>A	NCBI36
NG_011513.1:g.201597G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2941G>T	ENSP00000265724.3:p.Val981Phe
ENST00000622132.5:c.2941G>T MANE Select	ENSP00000478255.1:p.Val981Phe
ENST00000265724.7:c.2941G>T	ENSP00000265724.3:p.Val981Phe
ENST00000475929.5:n.97G>T
ENST00000483831.1:n.499G>T
ENST00000488737.6:n.583G>T
ENST00000496821.5:n.569G>T
ENST00000543898.5:c.2749G>T	ENSP00000444095.1:p.Val917Phe
ENST00000622132.4:c.2941G>T	ENSP00000478255.1:p.Val981Phe
NM_000927.4:c.2941G>T	NP_000918.2:p.Val981Phe
NM_001348944.1:c.2941G>T	NP_001335873.1:p.Val981Phe
NM_001348945.1:c.3151G>T	NP_001335874.1:p.Val1051Phe
NM_001348946.1:c.2941G>T	NP_001335875.1:p.Val981Phe
NM_001348946.2:c.2941G>T MANE Select	NP_001335875.1:p.Val981Phe
NM_000927.5:c.2941G>T	NP_000918.2:p.Val981Phe
NM_001348944.2:c.2941G>T	NP_001335873.1:p.Val981Phe
NM_001348945.2:c.3151G>T	NP_001335874.1:p.Val1051Phe