Canonical Allele Identifier: CA368047233

Gene: ABCB1

Linked Data

• MyVariant Identifiers: chr7:g.87145935T>G (hg19) ; chr7:g.87516619T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87516619T>G , CM000669.2:g.87516619T>G	GRCh38
NC_000007.13:g.87145935T>G , CM000669.1:g.87145935T>G	GRCh37
NC_000007.12:g.86983871T>G	NCBI36
NG_011513.1:g.201630A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2974A>C	ENSP00000265724.3:p.Ser992Arg
ENST00000622132.5:c.2974A>C MANE Select	ENSP00000478255.1:p.Ser992Arg
ENST00000265724.7:c.2974A>C	ENSP00000265724.3:p.Ser992Arg
ENST00000475929.5:n.130A>C
ENST00000483831.1:n.532A>C
ENST00000488737.6:n.616A>C
ENST00000496821.5:n.602A>C
ENST00000543898.5:c.2782A>C	ENSP00000444095.1:p.Ser928Arg
ENST00000622132.4:c.2974A>C	ENSP00000478255.1:p.Ser992Arg
NM_000927.4:c.2974A>C	NP_000918.2:p.Ser992Arg
NM_001348944.1:c.2974A>C	NP_001335873.1:p.Ser992Arg
NM_001348945.1:c.3184A>C	NP_001335874.1:p.Ser1062Arg
NM_001348946.1:c.2974A>C	NP_001335875.1:p.Ser992Arg
NM_001348946.2:c.2974A>C MANE Select	NP_001335875.1:p.Ser992Arg
NM_000927.5:c.2974A>C	NP_000918.2:p.Ser992Arg
NM_001348944.2:c.2974A>C	NP_001335873.1:p.Ser992Arg
NM_001348945.2:c.3184A>C	NP_001335874.1:p.Ser1062Arg