Canonical Allele Identifier: CA368046217

Gene: ABCB1

Linked Data

• MyVariant Identifiers: chr7:g.87145827G>C (hg19) ; chr7:g.87516511G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87516511G>C , CM000669.2:g.87516511G>C	GRCh38
NC_000007.13:g.87145827G>C , CM000669.1:g.87145827G>C	GRCh37
NC_000007.12:g.86983763G>C	NCBI36
NG_011513.1:g.201738C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.3082C>G	ENSP00000265724.3:p.Pro1028Ala
ENST00000622132.5:c.3082C>G MANE Select	ENSP00000478255.1:p.Pro1028Ala
ENST00000265724.7:c.3082C>G	ENSP00000265724.3:p.Pro1028Ala
ENST00000475929.5:n.238C>G
ENST00000483831.1:n.640C>G
ENST00000488737.6:n.724C>G
ENST00000496821.5:n.710C>G
ENST00000543898.5:c.2890C>G	ENSP00000444095.1:p.Pro964Ala
ENST00000622132.4:c.3082C>G	ENSP00000478255.1:p.Pro1028Ala
NM_000927.4:c.3082C>G	NP_000918.2:p.Pro1028Ala
NM_001348944.1:c.3082C>G	NP_001335873.1:p.Pro1028Ala
NM_001348945.1:c.3292C>G	NP_001335874.1:p.Pro1098Ala
NM_001348946.1:c.3082C>G	NP_001335875.1:p.Pro1028Ala
NM_001348946.2:c.3082C>G MANE Select	NP_001335875.1:p.Pro1028Ala
NM_000927.5:c.3082C>G	NP_000918.2:p.Pro1028Ala
NM_001348944.2:c.3082C>G	NP_001335873.1:p.Pro1028Ala
NM_001348945.2:c.3292C>G	NP_001335874.1:p.Pro1098Ala