Canonical Allele Identifier: CA345988721

Gene: APOB

Linked Data

• COSMIC: COSM4998750
• MyVariant Identifiers: chr2:g.21229934G>A (hg19) ; chr2:g.21007062G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21007062G>A , CM000664.2:g.21007062G>A	GRCh38
NC_000002.11:g.21229934G>A , CM000664.1:g.21229934G>A	GRCh37
NC_000002.10:g.21083439G>A	NCBI36
NG_011793.1:g.42012C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.9806C>T MANE Select	ENSP00000233242.1:p.Ala3269Val
ENST00000616098.4:c.9806C>T	ENSP00000477990.1:p.Ala3269Val
NM_000384.2:c.9806C>T	NP_000375.2:p.Ala3269Val
XM_011532809.1:c.5869+3671C>T	XP_011531111.1:n.5869+3671C>T
NM_000384.3:c.9806C>T MANE Select	NP_000375.3:p.Ala3269Val