Canonical Allele Identifier: CA764122501
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1264327159
gnomAD v3: 2-21023419-G-A
gnomAD v4: 2-21023419-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21023419G>A , CM000664.2:g.21023419G>A GRCh38
NC_000002.11:g.21246291G>A , CM000664.1:g.21246291G>A GRCh37
NC_000002.10:g.21099796G>A NCBI36
NG_011793.1:g.25655C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*1910+106C>T ENSP00000501110.2:n.*1910+106C>T
ENST00000673882.2:c.*1910+106C>T ENSP00000501253.2:n.*1910+106C>T
ENST00000673739.1:c.2318+106C>T ENSP00000501110.1:n.2318+106C>T
ENST00000673882.1:c.2318+106C>T ENSP00000501253.1:n.2318+106C>T
ENST00000233242.5:c.2604+106C>T MANE Select ENSP00000233242.1:n.2604+106C>T
ENST00000616098.4:c.2604+106C>T ENSP00000477990.1:n.2604+106C>T
NM_000384.2:c.2604+106C>T NP_000375.2:n.2604+106C>T
XM_011532809.1:c.2604+106C>T XP_011531111.1:n.2604+106C>T
NM_000384.3:c.2604+106C>T MANE Select NP_000375.3:n.2604+106C>T