Canonical Allele Identifier: CA368043513
Gene: ABCB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87515257A>G , CM000669.2:g.87515257A>G GRCh38
NC_000007.13:g.87144573A>G , CM000669.1:g.87144573A>G GRCh37
NC_000007.12:g.86982509A>G NCBI36
NG_011513.1:g.202992T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.3256T>C ENSP00000265724.3:p.Phe1086Leu
ENST00000622132.5:c.3256T>C MANE Select ENSP00000478255.1:p.Phe1086Leu
ENST00000265724.7:c.3256T>C ENSP00000265724.3:p.Phe1086Leu
ENST00000475929.5:n.412T>C
ENST00000488737.6:n.898T>C
ENST00000496821.5:n.884T>C
ENST00000543898.5:c.3064T>C ENSP00000444095.1:p.Phe1022Leu
ENST00000622132.4:c.3256T>C ENSP00000478255.1:p.Phe1086Leu
NM_000927.4:c.3256T>C NP_000918.2:p.Phe1086Leu
NM_001348944.1:c.3256T>C NP_001335873.1:p.Phe1086Leu
NM_001348945.1:c.3466T>C NP_001335874.1:p.Phe1156Leu
NM_001348946.1:c.3256T>C NP_001335875.1:p.Phe1086Leu
NM_001348946.2:c.3256T>C MANE Select NP_001335875.1:p.Phe1086Leu
NM_000927.5:c.3256T>C NP_000918.2:p.Phe1086Leu
NM_001348944.2:c.3256T>C NP_001335873.1:p.Phe1086Leu
NM_001348945.2:c.3466T>C NP_001335874.1:p.Phe1156Leu