Canonical Allele Identifier: CA066862

Gene: APOB

Linked Data

• ClinVar Variation Id: 334109
• ClinVar RCV Id: RCV000319890 ; RCV000845467 ; RCV000356037 ; RCV002374567 ; RCV002521387 ; RCV003114493
• dbSNP Id: rs142422341
• ExAC: 2:21229929 C / T
• gnomAD v2: 2-21229929-C-T
• gnomAD v3: 2-21007057-C-T
• gnomAD v4: 2-21007057-C-T
• MyVariant Identifiers: chr2:g.21229929C>T (hg19) ; chr2:g.21007057C>T (hg38)
• PubMed: PMID:27765764

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21007057C>T , CM000664.2:g.21007057C>T	GRCh38
NC_000002.11:g.21229929C>T , CM000664.1:g.21229929C>T	GRCh37
NC_000002.10:g.21083434C>T	NCBI36
NG_011793.1:g.42017G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.9811G>A MANE Select	ENSP00000233242.1:p.Gly3271Ser
ENST00000616098.4:c.9811G>A	ENSP00000477990.1:p.Gly3271Ser
NM_000384.2:c.9811G>A	NP_000375.2:p.Gly3271Ser
XM_011532809.1:c.5869+3676G>A	XP_011531111.1:n.5869+3676G>A
NM_000384.3:c.9811G>A MANE Select	NP_000375.3:p.Gly3271Ser