Canonical Allele Identifier: CA368047211

Gene: ABCB1

Linked Data

• gnomAD v4: 7-87516615-G-A
• MyVariant Identifiers: chr7:g.87145931G>A (hg19) ; chr7:g.87516615G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87516615G>A , CM000669.2:g.87516615G>A	GRCh38
NC_000007.13:g.87145931G>A , CM000669.1:g.87145931G>A	GRCh37
NC_000007.12:g.86983867G>A	NCBI36
NG_011513.1:g.201634C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265724.8:c.2978C>T	ENSP00000265724.3:p.Ser993Leu
ENST00000622132.5:c.2978C>T MANE Select	ENSP00000478255.1:p.Ser993Leu
ENST00000265724.7:c.2978C>T	ENSP00000265724.3:p.Ser993Leu
ENST00000475929.5:n.134C>T
ENST00000483831.1:n.536C>T
ENST00000488737.6:n.620C>T
ENST00000496821.5:n.606C>T
ENST00000543898.5:c.2786C>T	ENSP00000444095.1:p.Ser929Leu
ENST00000622132.4:c.2978C>T	ENSP00000478255.1:p.Ser993Leu
NM_000927.4:c.2978C>T	NP_000918.2:p.Ser993Leu
NM_001348944.1:c.2978C>T	NP_001335873.1:p.Ser993Leu
NM_001348945.1:c.3188C>T	NP_001335874.1:p.Ser1063Leu
NM_001348946.1:c.2978C>T	NP_001335875.1:p.Ser993Leu
NM_001348946.2:c.2978C>T MANE Select	NP_001335875.1:p.Ser993Leu
NM_000927.5:c.2978C>T	NP_000918.2:p.Ser993Leu
NM_001348944.2:c.2978C>T	NP_001335873.1:p.Ser993Leu
NM_001348945.2:c.3188C>T	NP_001335874.1:p.Ser1063Leu