Canonical Allele Identifier: CA346009233
Gene: APOB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015511C>G , CM000664.2:g.21015511C>G GRCh38
NC_000002.11:g.21238383C>G , CM000664.1:g.21238383C>G GRCh37
NC_000002.10:g.21091888C>G NCBI36
NG_011793.1:g.33563G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2673G>C ENSP00000501110.2:n.*2673G>C
ENST00000673882.2:c.*2462G>C ENSP00000501253.2:n.*2462G>C
ENST00000673739.1:c.3081G>C ENSP00000501110.1:n.3081G>C
ENST00000673882.1:c.2870G>C ENSP00000501253.1:n.2870G>C
ENST00000233242.5:c.3367G>C MANE Select ENSP00000233242.1:p.Val1123Leu
ENST00000616098.4:c.3367G>C ENSP00000477990.1:p.Val1123Leu
NM_000384.2:c.3367G>C NP_000375.2:p.Val1123Leu
XM_011532809.1:c.3367G>C XP_011531111.1:p.Val1123Leu
NM_000384.3:c.3367G>C MANE Select NP_000375.3:p.Val1123Leu