Canonical Allele Identifier: CA053453

Gene: APOB

Linked Data

• ClinVar Variation Id: 919908
• ClinVar RCV Id: RCV001178365 ; RCV002067888 ; RCV004033021
• dbSNP Id: rs146687572
• ExAC: 2:21224624 C / G
• gnomAD v2: 2-21224624-C-G
• gnomAD v3: 2-21001752-C-G
• gnomAD v4: 2-21001752-C-G
• MyVariant Identifiers: chr2:g.21224624C>G (hg19) ; chr2:g.21001752C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21001752C>G , CM000664.2:g.21001752C>G	GRCh38
NC_000002.11:g.21224624C>G , CM000664.1:g.21224624C>G	GRCh37
NC_000002.10:g.21078129C>G	NCBI36
NG_011793.1:g.47322G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.13670G>C MANE Select	ENSP00000233242.1:p.Gly4557Ala
ENST00000616098.4:c.13668G>C	ENSP00000477990.1:n.13668G>C
NM_000384.2:c.13670G>C	NP_000375.2:p.Gly4557Ala
XM_011532809.1:c.5870-2479G>C	XP_011531111.1:n.5870-2479G>C
NM_000384.3:c.13670G>C MANE Select	NP_000375.3:p.Gly4557Ala