Canonical Allele Identifier: CA050957

Gene: APOB

Linked Data

• ClinVar Variation Id: 575779
• ClinVar RCV Id: RCV001838105 ; RCV004026430
• dbSNP Id: rs748569334
• ExAC: 2:21225570 G / T
• gnomAD v2: 2-21225570-G-T
• gnomAD v3: 2-21002698-G-T
• gnomAD v4: 2-21002698-G-T
• MyVariant Identifiers: chr2:g.21225570G>T (hg19) ; chr2:g.21002698G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21002698G>T , CM000664.2:g.21002698G>T	GRCh38
NC_000002.11:g.21225570G>T , CM000664.1:g.21225570G>T	GRCh37
NC_000002.10:g.21079075G>T	NCBI36
NG_011793.1:g.46376C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.12724C>A MANE Select	ENSP00000233242.1:p.Leu4242Met
ENST00000616098.4:c.12724C>A	ENSP00000477990.1:p.Leu4242Met
NM_000384.2:c.12724C>A	NP_000375.2:p.Leu4242Met
XM_011532809.1:c.5870-3425C>A	XP_011531111.1:n.5870-3425C>A
NM_000384.3:c.12724C>A MANE Select	NP_000375.3:p.Leu4242Met