Canonical Allele Identifier: CA022788

Gene: APOB

Linked Data

• ClinVar Variation Id: 128418
• ClinVar RCV Id: RCV000116382 ; RCV000256262 ; RCV001094749 ; RCV000845573 ; RCV000284555 ; RCV001811403 ; RCV001837453 ; RCV000771025 ; RCV002381422
• dbSNP Id: rs1042034
• ExAC: 2:21225281 C / T
• gnomAD v2: 2-21225281-C-T
• gnomAD v3: 2-21002409-C-T
• gnomAD v4: 2-21002409-C-T
• MyVariant Identifiers: chr2:g.21225281C>T (hg19) ; chr2:g.21002409C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21002409C>T , CM000664.2:g.21002409C>T	GRCh38
NC_000002.11:g.21225281C>T , CM000664.1:g.21225281C>T	GRCh37
NC_000002.10:g.21078786C>T	NCBI36
NG_011793.1:g.46665G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.13013G>A MANE Select	ENSP00000233242.1:p.Ser4338Asn
ENST00000616098.4:c.13013G>A	ENSP00000477990.1:p.Ser4338Asn
NM_000384.2:c.13013G>A	NP_000375.2:p.Ser4338Asn
XM_011532809.1:c.5870-3136G>A	XP_011531111.1:n.5870-3136G>A
NM_000384.3:c.13013G>A MANE Select	NP_000375.3:p.Ser4338Asn