Canonical Allele Identifier: CA346000731
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21010083-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010083A>G , CM000664.2:g.21010083A>G GRCh38
NC_000002.11:g.21232955A>G , CM000664.1:g.21232955A>G GRCh37
NC_000002.10:g.21086460A>G NCBI36
NG_011793.1:g.38991T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6785T>C MANE Select ENSP00000233242.1:p.Ile2262Thr
ENST00000616098.4:c.6785T>C ENSP00000477990.1:p.Ile2262Thr
NM_000384.2:c.6785T>C NP_000375.2:p.Ile2262Thr
XM_011532809.1:c.5869+650T>C XP_011531111.1:n.5869+650T>C
NM_000384.3:c.6785T>C MANE Select NP_000375.3:p.Ile2262Thr