Canonical Allele Identifier: CA368054737
Gene: ABCB1 HGNC NCBI

Linked Data

dbSNP Id: rs2117130324

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87531371T>G , CM000669.2:g.87531371T>G GRCh38
NC_000007.13:g.87160687T>G , CM000669.1:g.87160687T>G GRCh37
NC_000007.12:g.86998623T>G NCBI36
NG_011513.1:g.186878A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2608A>C ENSP00000265724.3:p.Ile870Leu
ENST00000622132.5:c.2608A>C MANE Select ENSP00000478255.1:p.Ile870Leu
ENST00000265724.7:c.2608A>C ENSP00000265724.3:p.Ile870Leu
ENST00000488737.6:n.250A>C
ENST00000496821.5:n.236A>C
ENST00000543898.5:c.2416A>C ENSP00000444095.1:p.Ile806Leu
ENST00000622132.4:c.2608A>C ENSP00000478255.1:p.Ile870Leu
NM_000927.4:c.2608A>C NP_000918.2:p.Ile870Leu
NM_001348944.1:c.2608A>C NP_001335873.1:p.Ile870Leu
NM_001348945.1:c.2818A>C NP_001335874.1:p.Ile940Leu
NM_001348946.1:c.2608A>C NP_001335875.1:p.Ile870Leu
NM_001348946.2:c.2608A>C MANE Select NP_001335875.1:p.Ile870Leu
NM_000927.5:c.2608A>C NP_000918.2:p.Ile870Leu
NM_001348944.2:c.2608A>C NP_001335873.1:p.Ile870Leu
NM_001348945.2:c.2818A>C NP_001335874.1:p.Ile940Leu