Canonical Allele Identifier: CA368046873

Gene: ABCB1

Linked Data

• MyVariant Identifiers: chr7:g.87145887T>G (hg19) ; chr7:g.87516571T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87516571T>G , CM000669.2:g.87516571T>G	GRCh38
NC_000007.13:g.87145887T>G , CM000669.1:g.87145887T>G	GRCh37
NC_000007.12:g.86983823T>G	NCBI36
NG_011513.1:g.201678A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.3022A>C	ENSP00000265724.3:p.Ile1008Leu
ENST00000622132.5:c.3022A>C MANE Select	ENSP00000478255.1:p.Ile1008Leu
ENST00000265724.7:c.3022A>C	ENSP00000265724.3:p.Ile1008Leu
ENST00000475929.5:n.178A>C
ENST00000483831.1:n.580A>C
ENST00000488737.6:n.664A>C
ENST00000496821.5:n.650A>C
ENST00000543898.5:c.2830A>C	ENSP00000444095.1:p.Ile944Leu
ENST00000622132.4:c.3022A>C	ENSP00000478255.1:p.Ile1008Leu
NM_000927.4:c.3022A>C	NP_000918.2:p.Ile1008Leu
NM_001348944.1:c.3022A>C	NP_001335873.1:p.Ile1008Leu
NM_001348945.1:c.3232A>C	NP_001335874.1:p.Ile1078Leu
NM_001348946.1:c.3022A>C	NP_001335875.1:p.Ile1008Leu
NM_001348946.2:c.3022A>C MANE Select	NP_001335875.1:p.Ile1008Leu
NM_000927.5:c.3022A>C	NP_000918.2:p.Ile1008Leu
NM_001348944.2:c.3022A>C	NP_001335873.1:p.Ile1008Leu
NM_001348945.2:c.3232A>C	NP_001335874.1:p.Ile1078Leu