Canonical Allele Identifier: CA368046755
Gene: ABCB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87516556C>T , CM000669.2:g.87516556C>T GRCh38
NC_000007.13:g.87145872C>T , CM000669.1:g.87145872C>T GRCh37
NC_000007.12:g.86983808C>T NCBI36
NG_011513.1:g.201693G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.3037G>A ENSP00000265724.3:p.Glu1013Lys
ENST00000622132.5:c.3037G>A MANE Select ENSP00000478255.1:p.Glu1013Lys
ENST00000265724.7:c.3037G>A ENSP00000265724.3:p.Glu1013Lys
ENST00000475929.5:n.193G>A
ENST00000483831.1:n.595G>A
ENST00000488737.6:n.679G>A
ENST00000496821.5:n.665G>A
ENST00000543898.5:c.2845G>A ENSP00000444095.1:p.Glu949Lys
ENST00000622132.4:c.3037G>A ENSP00000478255.1:p.Glu1013Lys
NM_000927.4:c.3037G>A NP_000918.2:p.Glu1013Lys
NM_001348944.1:c.3037G>A NP_001335873.1:p.Glu1013Lys
NM_001348945.1:c.3247G>A NP_001335874.1:p.Glu1083Lys
NM_001348946.1:c.3037G>A NP_001335875.1:p.Glu1013Lys
NM_001348946.2:c.3037G>A MANE Select NP_001335875.1:p.Glu1013Lys
NM_000927.5:c.3037G>A NP_000918.2:p.Glu1013Lys
NM_001348944.2:c.3037G>A NP_001335873.1:p.Glu1013Lys
NM_001348945.2:c.3247G>A NP_001335874.1:p.Glu1083Lys