Canonical Allele Identifier: CA048571

Gene: APOB

Linked Data

• ClinVar Variation Id: 334064
• ClinVar RCV Id: RCV000310292 ; RCV000406597 ; RCV000771189 ; RCV001535184 ; RCV002521383
• dbSNP Id: rs72654428
• ExAC: 2:21224591 C / A
• gnomAD v2: 2-21224591-C-A
• gnomAD v3: 2-21001719-C-A
• gnomAD v4: 2-21001719-C-A
• MyVariant Identifiers: chr2:g.21224591C>A (hg19) ; chr2:g.21001719C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21001719C>A , CM000664.2:g.21001719C>A	GRCh38
NC_000002.11:g.21224591C>A , CM000664.1:g.21224591C>A	GRCh37
NC_000002.10:g.21078096C>A	NCBI36
NG_011793.1:g.47355G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.*11G>T MANE Select	ENSP00000233242.1:n.*11G>T
ENST00000616098.4:c.13701G>T	ENSP00000477990.1:n.13701G>T
NM_000384.2:c.*11G>T	NP_000375.2:n.*11G>T
XM_011532809.1:c.5870-2446G>T	XP_011531111.1:n.5870-2446G>T
NM_000384.3:c.*11G>T MANE Select	NP_000375.3:n.*11G>T