Canonical Allele Identifier: CA345962539
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21037999-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21037999C>T , CM000664.2:g.21037999C>T GRCh38
NC_000002.11:g.21260871C>T , CM000664.1:g.21260871C>T GRCh37
NC_000002.10:g.21114376C>T NCBI36
NG_011793.1:g.11075G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.384-744G>A ENSP00000501110.2:n.384-744G>A
ENST00000673882.2:c.384-744G>A ENSP00000501253.2:n.384-744G>A
ENST00000673739.1:c.252-744G>A ENSP00000501110.1:n.252-744G>A
ENST00000673882.1:c.252-744G>A ENSP00000501253.1:n.252-744G>A
ENST00000233242.5:c.496G>A MANE Select ENSP00000233242.1:p.Val166Ile
ENST00000399256.4:c.496G>A ENSP00000382200.4:p.Val166Ile
ENST00000616098.4:c.496G>A ENSP00000477990.1:p.Val166Ile
NM_000384.2:c.496G>A NP_000375.2:p.Val166Ile
XM_011532809.1:c.496G>A XP_011531111.1:p.Val166Ile
NM_000384.3:c.496G>A MANE Select NP_000375.3:p.Val166Ile