Canonical Allele Identifier: CA346010946
Gene: APOB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21023533C>A , CM000664.2:g.21023533C>A GRCh38
NC_000002.11:g.21246405C>A , CM000664.1:g.21246405C>A GRCh37
NC_000002.10:g.21099910C>A NCBI36
NG_011793.1:g.25541G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*1902G>T ENSP00000501110.2:n.*1902G>T
ENST00000673882.2:c.*1902G>T ENSP00000501253.2:n.*1902G>T
ENST00000673739.1:c.2310G>T ENSP00000501110.1:n.2310G>T
ENST00000673882.1:c.2310G>T ENSP00000501253.1:n.2310G>T
ENST00000233242.5:c.2596G>T MANE Select ENSP00000233242.1:p.Val866Leu
ENST00000616098.4:c.2596G>T ENSP00000477990.1:p.Val866Leu
NM_000384.2:c.2596G>T NP_000375.2:p.Val866Leu
XM_011532809.1:c.2596G>T XP_011531111.1:p.Val866Leu
NM_000384.3:c.2596G>T MANE Select NP_000375.3:p.Val866Leu