Canonical Allele Identifier: CA368058792
Gene: ABCB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87544845T>C , CM000669.2:g.87544845T>C GRCh38
NC_000007.13:g.87174161T>C , CM000669.1:g.87174161T>C GRCh37
NC_000007.12:g.87012097T>C NCBI36
NG_011513.1:g.173404A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2042A>G ENSP00000265724.3:p.Lys681Arg
ENST00000622132.5:c.2042A>G MANE Select ENSP00000478255.1:p.Lys681Arg
ENST00000265724.7:c.2042A>G ENSP00000265724.3:p.Lys681Arg
ENST00000543898.5:c.1850A>G ENSP00000444095.1:p.Lys617Arg
ENST00000622132.4:c.2042A>G ENSP00000478255.1:p.Lys681Arg
NM_000927.4:c.2042A>G NP_000918.2:p.Lys681Arg
NM_001348944.1:c.2042A>G NP_001335873.1:p.Lys681Arg
NM_001348945.1:c.2252A>G NP_001335874.1:p.Lys751Arg
NM_001348946.1:c.2042A>G NP_001335875.1:p.Lys681Arg
NM_001348946.2:c.2042A>G MANE Select NP_001335875.1:p.Lys681Arg
NM_000927.5:c.2042A>G NP_000918.2:p.Lys681Arg
NM_001348944.2:c.2042A>G NP_001335873.1:p.Lys681Arg
NM_001348945.2:c.2252A>G NP_001335874.1:p.Lys751Arg