Canonical Allele Identifier: CA531313103
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1304325187
gnomAD v2: 2-21261031-C-T
gnomAD v4: 2-21038159-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21038159C>T , CM000664.2:g.21038159C>T GRCh38
NC_000002.11:g.21261031C>T , CM000664.1:g.21261031C>T GRCh37
NC_000002.10:g.21114536C>T NCBI36
NG_011793.1:g.10915G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.384-904G>A ENSP00000501110.2:n.384-904G>A
ENST00000673882.2:c.384-904G>A ENSP00000501253.2:n.384-904G>A
ENST00000673739.1:c.252-904G>A ENSP00000501110.1:n.252-904G>A
ENST00000673882.1:c.252-904G>A ENSP00000501253.1:n.252-904G>A
ENST00000233242.5:c.384-48G>A MANE Select ENSP00000233242.1:n.384-48G>A
ENST00000399256.4:c.384-48G>A ENSP00000382200.4:n.384-48G>A
ENST00000616098.4:c.384-48G>A ENSP00000477990.1:n.384-48G>A
NM_000384.2:c.384-48G>A NP_000375.2:n.384-48G>A
XM_011532809.1:c.384-48G>A XP_011531111.1:n.384-48G>A
NM_000384.3:c.384-48G>A MANE Select NP_000375.3:n.384-48G>A