Canonical Allele Identifier: CA10614122

Gene: APOB

Linked Data

• ClinVar Variation Id: 334073
• ClinVar RCV Id: RCV000297805 ; RCV000403295
• dbSNP Id: rs886055572
• gnomAD v2: 2-21225311-T-C
• gnomAD v3: 2-21002439-T-C
• gnomAD v4: 2-21002439-T-C
• MyVariant Identifiers: chr2:g.21225311T>C (hg19) ; chr2:g.21002439T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21002439T>C , CM000664.2:g.21002439T>C	GRCh38
NC_000002.11:g.21225311T>C , CM000664.1:g.21225311T>C	GRCh37
NC_000002.10:g.21078816T>C	NCBI36
NG_011793.1:g.46635A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.12983A>G MANE Select	ENSP00000233242.1:p.Tyr4328Cys
ENST00000616098.4:c.12983A>G	ENSP00000477990.1:p.Tyr4328Cys
NM_000384.2:c.12983A>G	NP_000375.2:p.Tyr4328Cys
XM_011532809.1:c.5870-3166A>G	XP_011531111.1:n.5870-3166A>G
NM_000384.3:c.12983A>G MANE Select	NP_000375.3:p.Tyr4328Cys