Canonical Allele Identifier: CA346009238
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21015514-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015514C>A , CM000664.2:g.21015514C>A GRCh38
NC_000002.11:g.21238386C>A , CM000664.1:g.21238386C>A GRCh37
NC_000002.10:g.21091891C>A NCBI36
NG_011793.1:g.33560G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2670G>T ENSP00000501110.2:n.*2670G>T
ENST00000673882.2:c.*2459G>T ENSP00000501253.2:n.*2459G>T
ENST00000673739.1:c.3078G>T ENSP00000501110.1:n.3078G>T
ENST00000673882.1:c.2867G>T ENSP00000501253.1:n.2867G>T
ENST00000233242.5:c.3364G>T MANE Select ENSP00000233242.1:p.Gly1122Cys
ENST00000616098.4:c.3364G>T ENSP00000477990.1:p.Gly1122Cys
NM_000384.2:c.3364G>T NP_000375.2:p.Gly1122Cys
XM_011532809.1:c.3364G>T XP_011531111.1:p.Gly1122Cys
NM_000384.3:c.3364G>T MANE Select NP_000375.3:p.Gly1122Cys