Canonical Allele Identifier: CA368043749
Gene: ABCB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87515293A>C , CM000669.2:g.87515293A>C GRCh38
NC_000007.13:g.87144609A>C , CM000669.1:g.87144609A>C GRCh37
NC_000007.12:g.86982545A>C NCBI36
NG_011513.1:g.202956T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.3220T>G ENSP00000265724.3:p.Cys1074Gly
ENST00000622132.5:c.3220T>G MANE Select ENSP00000478255.1:p.Cys1074Gly
ENST00000265724.7:c.3220T>G ENSP00000265724.3:p.Cys1074Gly
ENST00000475929.5:n.376T>G
ENST00000488737.6:n.862T>G
ENST00000496821.5:n.848T>G
ENST00000543898.5:c.3028T>G ENSP00000444095.1:p.Cys1010Gly
ENST00000622132.4:c.3220T>G ENSP00000478255.1:p.Cys1074Gly
NM_000927.4:c.3220T>G NP_000918.2:p.Cys1074Gly
NM_001348944.1:c.3220T>G NP_001335873.1:p.Cys1074Gly
NM_001348945.1:c.3430T>G NP_001335874.1:p.Cys1144Gly
NM_001348946.1:c.3220T>G NP_001335875.1:p.Cys1074Gly
NM_001348946.2:c.3220T>G MANE Select NP_001335875.1:p.Cys1074Gly
NM_000927.5:c.3220T>G NP_000918.2:p.Cys1074Gly
NM_001348944.2:c.3220T>G NP_001335873.1:p.Cys1074Gly
NM_001348945.2:c.3430T>G NP_001335874.1:p.Cys1144Gly