Canonical Allele Identifier: CA346000639
Gene: APOB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010051T>A , CM000664.2:g.21010051T>A GRCh38
NC_000002.11:g.21232923T>A , CM000664.1:g.21232923T>A GRCh37
NC_000002.10:g.21086428T>A NCBI36
NG_011793.1:g.39023A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6817A>T MANE Select ENSP00000233242.1:p.Ile2273Leu
ENST00000616098.4:c.6817A>T ENSP00000477990.1:p.Ile2273Leu
NM_000384.2:c.6817A>T NP_000375.2:p.Ile2273Leu
XM_011532809.1:c.5869+682A>T XP_011531111.1:n.5869+682A>T
NM_000384.3:c.6817A>T MANE Select NP_000375.3:p.Ile2273Leu