Canonical Allele Identifier: CA368063359
Gene: ABCB1 HGNC NCBI

Linked Data

gnomAD v4: 7-87550575-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87550575G>A , CM000669.2:g.87550575G>A GRCh38
NC_000007.13:g.87179891G>A , CM000669.1:g.87179891G>A GRCh37
NC_000007.12:g.87017827G>A NCBI36
NG_011513.1:g.167674C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265724.8:c.1117C>T ENSP00000265724.3:p.Pro373Ser
ENST00000622132.5:c.1117C>T MANE Select ENSP00000478255.1:p.Pro373Ser
ENST00000265724.7:c.1117C>T ENSP00000265724.3:p.Pro373Ser
ENST00000543898.5:c.925C>T ENSP00000444095.1:p.Pro309Ser
ENST00000622132.4:c.1117C>T ENSP00000478255.1:p.Pro373Ser
NM_000927.4:c.1117C>T NP_000918.2:p.Pro373Ser
NM_001348944.1:c.1117C>T NP_001335873.1:p.Pro373Ser
NM_001348945.1:c.1327C>T NP_001335874.1:p.Pro443Ser
NM_001348946.1:c.1117C>T NP_001335875.1:p.Pro373Ser
NM_001348946.2:c.1117C>T MANE Select NP_001335875.1:p.Pro373Ser
NM_000927.5:c.1117C>T NP_000918.2:p.Pro373Ser
NM_001348944.2:c.1117C>T NP_001335873.1:p.Pro373Ser
NM_001348945.2:c.1327C>T NP_001335874.1:p.Pro443Ser