Canonical Allele Identifier: CA368055303
Gene: ABCB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87531492T>C , CM000669.2:g.87531492T>C GRCh38
NC_000007.13:g.87160808T>C , CM000669.1:g.87160808T>C GRCh37
NC_000007.12:g.86998744T>C NCBI36
NG_011513.1:g.186757A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.2487A>G ENSP00000265724.3:p.Ile829Met
ENST00000622132.5:c.2487A>G MANE Select ENSP00000478255.1:p.Ile829Met
ENST00000265724.7:c.2487A>G ENSP00000265724.3:p.Ile829Met
ENST00000488737.6:n.129A>G
ENST00000496821.5:n.115A>G
ENST00000543898.5:c.2295A>G ENSP00000444095.1:p.Ile765Met
ENST00000622132.4:c.2487A>G ENSP00000478255.1:p.Ile829Met
NM_000927.4:c.2487A>G NP_000918.2:p.Ile829Met
NM_001348944.1:c.2487A>G NP_001335873.1:p.Ile829Met
NM_001348945.1:c.2697A>G NP_001335874.1:p.Ile899Met
NM_001348946.1:c.2487A>G NP_001335875.1:p.Ile829Met
NM_001348946.2:c.2487A>G MANE Select NP_001335875.1:p.Ile829Met
NM_000927.5:c.2487A>G NP_000918.2:p.Ile829Met
NM_001348944.2:c.2487A>G NP_001335873.1:p.Ile829Met
NM_001348945.2:c.2697A>G NP_001335874.1:p.Ile899Met