Canonical Allele Identifier: CA346009070

Gene: APOB

Linked Data

• ClinVar Variation Id: 1341571
• ClinVar RCV Id: RCV001837067
• dbSNP Id: rs2103362933
• MyVariant Identifiers: chr2:g.21238304T>C (hg19) ; chr2:g.21015432T>C (hg38)

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