Canonical Allele Identifier: CA368062455
Gene: ABCB1 HGNC NCBI

Linked Data

gnomAD v4: 7-87550050-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87550050C>A , CM000669.2:g.87550050C>A GRCh38
NC_000007.13:g.87179366C>A , CM000669.1:g.87179366C>A GRCh37
NC_000007.12:g.87017302C>A NCBI36
NG_011513.1:g.168199G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.1355G>T ENSP00000265724.3:p.Ser452Ile
ENST00000622132.5:c.1355G>T MANE Select ENSP00000478255.1:p.Ser452Ile
ENST00000265724.7:c.1355G>T ENSP00000265724.3:p.Ser452Ile
ENST00000482527.1:n.109G>T
ENST00000543898.5:c.1163G>T ENSP00000444095.1:p.Ser388Ile
ENST00000622132.4:c.1355G>T ENSP00000478255.1:p.Ser452Ile
NM_000927.4:c.1355G>T NP_000918.2:p.Ser452Ile
NM_001348944.1:c.1355G>T NP_001335873.1:p.Ser452Ile
NM_001348945.1:c.1565G>T NP_001335874.1:p.Ser522Ile
NM_001348946.1:c.1355G>T NP_001335875.1:p.Ser452Ile
NM_001348946.2:c.1355G>T MANE Select NP_001335875.1:p.Ser452Ile
NM_000927.5:c.1355G>T NP_000918.2:p.Ser452Ile
NM_001348944.2:c.1355G>T NP_001335873.1:p.Ser452Ile
NM_001348945.2:c.1565G>T NP_001335874.1:p.Ser522Ile