Canonical Allele Identifier: CA345962810

Gene: APOB

Linked Data

• ClinVar Variation Id: 2477923
• ClinVar RCV Id: RCV004265453
• MyVariant Identifiers: chr2:g.21260975A>C (hg19) ; chr2:g.21038103A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21038103A>C , CM000664.2:g.21038103A>C	GRCh38
NC_000002.11:g.21260975A>C , CM000664.1:g.21260975A>C	GRCh37
NC_000002.10:g.21114480A>C	NCBI36
NG_011793.1:g.10971T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.384-848T>G	ENSP00000501110.2:n.384-848T>G
ENST00000673882.2:c.384-848T>G	ENSP00000501253.2:n.384-848T>G
ENST00000673739.1:c.252-848T>G	ENSP00000501110.1:n.252-848T>G
ENST00000673882.1:c.252-848T>G	ENSP00000501253.1:n.252-848T>G
ENST00000233242.5:c.392T>G MANE Select	ENSP00000233242.1:p.Leu131Arg
ENST00000399256.4:c.392T>G	ENSP00000382200.4:p.Leu131Arg
ENST00000616098.4:c.392T>G	ENSP00000477990.1:p.Leu131Arg
NM_000384.2:c.392T>G	NP_000375.2:p.Leu131Arg
XM_011532809.1:c.392T>G	XP_011531111.1:p.Leu131Arg
NM_000384.3:c.392T>G MANE Select	NP_000375.3:p.Leu131Arg