Canonical Allele Identifier: CA345969774

Gene: APOB

Linked Data

• gnomAD v4: 2-21002398-G-T
• MyVariant Identifiers: chr2:g.21225270G>T (hg19) ; chr2:g.21002398G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21002398G>T , CM000664.2:g.21002398G>T	GRCh38
NC_000002.11:g.21225270G>T , CM000664.1:g.21225270G>T	GRCh37
NC_000002.10:g.21078775G>T	NCBI36
NG_011793.1:g.46676C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.13024C>A MANE Select	ENSP00000233242.1:p.Pro4342Thr
ENST00000616098.4:c.13024C>A	ENSP00000477990.1:p.Pro4342Thr
NM_000384.2:c.13024C>A	NP_000375.2:p.Pro4342Thr
XM_011532809.1:c.5870-3125C>A	XP_011531111.1:n.5870-3125C>A
NM_000384.3:c.13024C>A MANE Select	NP_000375.3:p.Pro4342Thr