Canonical Allele Identifier: CA059142
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs763146649
gnomAD v2: 2-21238084-G-A
gnomAD v4: 2-21015212-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015212G>A , CM000664.2:g.21015212G>A GRCh38
NC_000002.11:g.21238084G>A , CM000664.1:g.21238084G>A GRCh37
NC_000002.10:g.21091589G>A NCBI36
NG_011793.1:g.33862C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2863C>T ENSP00000501110.2:n.*2863C>T
ENST00000673882.2:c.*2652C>T ENSP00000501253.2:n.*2652C>T
ENST00000673739.1:c.3271C>T ENSP00000501110.1:n.3271C>T
ENST00000673882.1:c.3060C>T ENSP00000501253.1:n.3060C>T
ENST00000233242.5:c.3557C>T MANE Select ENSP00000233242.1:p.Thr1186Ile
ENST00000616098.4:c.3557C>T ENSP00000477990.1:p.Thr1186Ile
NM_000384.2:c.3557C>T NP_000375.2:p.Thr1186Ile
XM_011532809.1:c.3557C>T XP_011531111.1:p.Thr1186Ile
NM_000384.3:c.3557C>T MANE Select NP_000375.3:p.Thr1186Ile