Canonical Allele Identifier: CA345968756
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21002251-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002251G>T , CM000664.2:g.21002251G>T GRCh38
NC_000002.11:g.21225123G>T , CM000664.1:g.21225123G>T GRCh37
NC_000002.10:g.21078628G>T NCBI36
NG_011793.1:g.46823C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13171C>A MANE Select ENSP00000233242.1:p.Pro4391Thr
ENST00000616098.4:c.13169C>A ENSP00000477990.1:n.13169C>A
NM_000384.2:c.13171C>A NP_000375.2:p.Pro4391Thr
XM_011532809.1:c.5870-2978C>A XP_011531111.1:n.5870-2978C>A
NM_000384.3:c.13171C>A MANE Select NP_000375.3:p.Pro4391Thr