Canonical Allele Identifier: CA368047221

Gene: ABCB1

Linked Data

• MyVariant Identifiers: chr7:g.87145932A>C (hg19) ; chr7:g.87516616A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87516616A>C , CM000669.2:g.87516616A>C	GRCh38
NC_000007.13:g.87145932A>C , CM000669.1:g.87145932A>C	GRCh37
NC_000007.12:g.86983868A>C	NCBI36
NG_011513.1:g.201633T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2977T>G	ENSP00000265724.3:p.Ser993Ala
ENST00000622132.5:c.2977T>G MANE Select	ENSP00000478255.1:p.Ser993Ala
ENST00000265724.7:c.2977T>G	ENSP00000265724.3:p.Ser993Ala
ENST00000475929.5:n.133T>G
ENST00000483831.1:n.535T>G
ENST00000488737.6:n.619T>G
ENST00000496821.5:n.605T>G
ENST00000543898.5:c.2785T>G	ENSP00000444095.1:p.Ser929Ala
ENST00000622132.4:c.2977T>G	ENSP00000478255.1:p.Ser993Ala
NM_000927.4:c.2977T>G	NP_000918.2:p.Ser993Ala
NM_001348944.1:c.2977T>G	NP_001335873.1:p.Ser993Ala
NM_001348945.1:c.3187T>G	NP_001335874.1:p.Ser1063Ala
NM_001348946.1:c.2977T>G	NP_001335875.1:p.Ser993Ala
NM_001348946.2:c.2977T>G MANE Select	NP_001335875.1:p.Ser993Ala
NM_000927.5:c.2977T>G	NP_000918.2:p.Ser993Ala
NM_001348944.2:c.2977T>G	NP_001335873.1:p.Ser993Ala
NM_001348945.2:c.3187T>G	NP_001335874.1:p.Ser1063Ala