Canonical Allele Identifier: CA345967297

Gene: APOB

Linked Data

• ClinVar Variation Id: 1026267
• ClinVar RCV Id: RCV001838488 ; RCV003169534
• dbSNP Id: rs751629013
• gnomAD v3: 2-21001933-A-C
• gnomAD v4: 2-21001933-A-C
• MyVariant Identifiers: chr2:g.21224805A>C (hg19) ; chr2:g.21001933A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21001933A>C , CM000664.2:g.21001933A>C	GRCh38
NC_000002.11:g.21224805A>C , CM000664.1:g.21224805A>C	GRCh37
NC_000002.10:g.21078310A>C	NCBI36
NG_011793.1:g.47141T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.13489T>G MANE Select	ENSP00000233242.1:p.Tyr4497Asp
ENST00000616098.4:c.13487T>G	ENSP00000477990.1:n.13487T>G
NM_000384.2:c.13489T>G	NP_000375.2:p.Tyr4497Asp
XM_011532809.1:c.5870-2660T>G	XP_011531111.1:n.5870-2660T>G
NM_000384.3:c.13489T>G MANE Select	NP_000375.3:p.Tyr4497Asp