Canonical Allele Identifier: CA368090611
Gene: ABCB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87566222C>G , CM000669.2:g.87566222C>G GRCh38
NC_000007.13:g.87195538C>G , CM000669.1:g.87195538C>G GRCh37
NC_000007.12:g.87033474C>G NCBI36
NG_011513.1:g.152027G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265724.8:c.550G>C ENSP00000265724.3:p.Glu184Gln
ENST00000622132.5:c.550G>C MANE Select ENSP00000478255.1:p.Glu184Gln
ENST00000265724.7:c.550G>C ENSP00000265724.3:p.Glu184Gln
ENST00000543898.5:c.358G>C ENSP00000444095.1:p.Glu120Gln
ENST00000622132.4:c.550G>C ENSP00000478255.1:p.Glu184Gln
NM_000927.4:c.550G>C NP_000918.2:p.Glu184Gln
NM_001348944.1:c.550G>C NP_001335873.1:p.Glu184Gln
NM_001348945.1:c.760G>C NP_001335874.1:p.Glu254Gln
NM_001348946.1:c.550G>C NP_001335875.1:p.Glu184Gln
NM_001348946.2:c.550G>C MANE Select NP_001335875.1:p.Glu184Gln
NM_000927.5:c.550G>C NP_000918.2:p.Glu184Gln
NM_001348944.2:c.550G>C NP_001335873.1:p.Glu184Gln
NM_001348945.2:c.760G>C NP_001335874.1:p.Glu254Gln