Canonical Allele Identifier: CA346009070
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1341571
ClinVar RCV Id: RCV001837067
dbSNP Id: rs2103362933

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015432T>C , CM000664.2:g.21015432T>C GRCh38
NC_000002.11:g.21238304T>C , CM000664.1:g.21238304T>C GRCh37
NC_000002.10:g.21091809T>C NCBI36
NG_011793.1:g.33642A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2752A>G ENSP00000501110.2:n.*2752A>G
ENST00000673882.2:c.*2541A>G ENSP00000501253.2:n.*2541A>G
ENST00000673739.1:c.3160A>G ENSP00000501110.1:n.3160A>G
ENST00000673882.1:c.2949A>G ENSP00000501253.1:n.2949A>G
ENST00000233242.5:c.3446A>G MANE Select ENSP00000233242.1:p.Gln1149Arg
ENST00000616098.4:c.3446A>G ENSP00000477990.1:p.Gln1149Arg
NM_000384.2:c.3446A>G NP_000375.2:p.Gln1149Arg
XM_011532809.1:c.3446A>G XP_011531111.1:p.Gln1149Arg
NM_000384.3:c.3446A>G MANE Select NP_000375.3:p.Gln1149Arg