Canonical Allele Identifier: CA346014437
Gene: APOB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21028392T>G , CM000664.2:g.21028392T>G GRCh38
NC_000002.11:g.21251264T>G , CM000664.1:g.21251264T>G GRCh37
NC_000002.10:g.21104769T>G NCBI36
NG_011793.1:g.20682A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*1070A>C ENSP00000501110.2:n.*1070A>C
ENST00000673882.2:c.*1070A>C ENSP00000501253.2:n.*1070A>C
ENST00000673739.1:c.1478A>C ENSP00000501110.1:n.1478A>C
ENST00000673882.1:c.1478A>C ENSP00000501253.1:n.1478A>C
ENST00000233242.5:c.1764A>C MANE Select ENSP00000233242.1:p.Gln588His
ENST00000399256.4:c.1764A>C ENSP00000382200.4:p.Gln588His
ENST00000616098.4:c.1764A>C ENSP00000477990.1:p.Gln588His
NM_000384.2:c.1764A>C NP_000375.2:p.Gln588His
XM_011532809.1:c.1764A>C XP_011531111.1:p.Gln588His
NM_000384.3:c.1764A>C MANE Select NP_000375.3:p.Gln588His