Canonical Allele Identifier: CA042354

Gene: APOB

Linked Data

• ClinVar Variation Id: 369882
• ClinVar RCV Id: RCV000408877 ; RCV000776114 ; RCV001256895 ; RCV001837890 ; RCV002411273
• dbSNP Id: rs61742331
• ExAC: 2:21229679 G / C
• gnomAD v2: 2-21229679-G-C
• gnomAD v3: 2-21006807-G-C
• gnomAD v4: 2-21006807-G-C
• MyVariant Identifiers: chr2:g.21229679G>C (hg19) ; chr2:g.21006807G>C (hg38)
• PubMed: PMID:27765764

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21006807G>C , CM000664.2:g.21006807G>C	GRCh38
NC_000002.11:g.21229679G>C , CM000664.1:g.21229679G>C	GRCh37
NC_000002.10:g.21083184G>C	NCBI36
NG_011793.1:g.42267C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000233242.5:c.10061C>G MANE Select	ENSP00000233242.1:p.Ala3354Gly
ENST00000616098.4:c.10061C>G	ENSP00000477990.1:p.Ala3354Gly
NM_000384.2:c.10061C>G	NP_000375.2:p.Ala3354Gly
XM_011532809.1:c.5869+3926C>G	XP_011531111.1:n.5869+3926C>G
NM_000384.3:c.10061C>G MANE Select	NP_000375.3:p.Ala3354Gly