Canonical Allele Identifier: CA1723632127
Gene: ABCB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87531218G>C , CM000669.2:g.87531218G>C GRCh38
NC_000007.13:g.87160534G>C , CM000669.1:g.87160534G>C GRCh37
NC_000007.12:g.86998470G>C NCBI36
NG_011513.1:g.187031C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265724.8:c.2685+76C>G ENSP00000265724.3:n.2685+76C>G
ENST00000622132.5:c.2685+76C>G MANE Select ENSP00000478255.1:n.2685+76C>G
ENST00000265724.7:c.2685+76C>G ENSP00000265724.3:n.2685+76C>G
ENST00000488737.6:n.327+76C>G
ENST00000496821.5:n.313+76C>G
ENST00000543898.5:c.2493+76C>G ENSP00000444095.1:n.2493+76C>G
ENST00000622132.4:c.2685+76C>G ENSP00000478255.1:n.2685+76C>G
NM_000927.4:c.2685+76C>G NP_000918.2:n.2685+76C>G
NM_001348944.1:c.2685+76C>G NP_001335873.1:n.2685+76C>G
NM_001348945.1:c.2895+76C>G NP_001335874.1:n.2895+76C>G
NM_001348946.1:c.2685+76C>G NP_001335875.1:n.2685+76C>G
NM_001348946.2:c.2685+76C>G MANE Select NP_001335875.1:n.2685+76C>G
NM_000927.5:c.2685+76C>G NP_000918.2:n.2685+76C>G
NM_001348944.2:c.2685+76C>G NP_001335873.1:n.2685+76C>G
NM_001348945.2:c.2895+76C>G NP_001335874.1:n.2895+76C>G