Canonical Allele Identifier: CA368043719
Gene: ABCB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87515286T>G , CM000669.2:g.87515286T>G GRCh38
NC_000007.13:g.87144602T>G , CM000669.1:g.87144602T>G GRCh37
NC_000007.12:g.86982538T>G NCBI36
NG_011513.1:g.202963A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.3227A>C ENSP00000265724.3:p.Lys1076Thr
ENST00000622132.5:c.3227A>C MANE Select ENSP00000478255.1:p.Lys1076Thr
ENST00000265724.7:c.3227A>C ENSP00000265724.3:p.Lys1076Thr
ENST00000475929.5:n.383A>C
ENST00000488737.6:n.869A>C
ENST00000496821.5:n.855A>C
ENST00000543898.5:c.3035A>C ENSP00000444095.1:p.Lys1012Thr
ENST00000622132.4:c.3227A>C ENSP00000478255.1:p.Lys1076Thr
NM_000927.4:c.3227A>C NP_000918.2:p.Lys1076Thr
NM_001348944.1:c.3227A>C NP_001335873.1:p.Lys1076Thr
NM_001348945.1:c.3437A>C NP_001335874.1:p.Lys1146Thr
NM_001348946.1:c.3227A>C NP_001335875.1:p.Lys1076Thr
NM_001348946.2:c.3227A>C MANE Select NP_001335875.1:p.Lys1076Thr
NM_000927.5:c.3227A>C NP_000918.2:p.Lys1076Thr
NM_001348944.2:c.3227A>C NP_001335873.1:p.Lys1076Thr
NM_001348945.2:c.3437A>C NP_001335874.1:p.Lys1146Thr