Canonical Allele Identifier: CA346009232

Gene: APOB

Linked Data

• gnomAD v4: 2-21015511-C-T
• MyVariant Identifiers: chr2:g.21238383C>T (hg19) ; chr2:g.21015511C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015511C>T , CM000664.2:g.21015511C>T	GRCh38
NC_000002.11:g.21238383C>T , CM000664.1:g.21238383C>T	GRCh37
NC_000002.10:g.21091888C>T	NCBI36
NG_011793.1:g.33563G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2673G>A	ENSP00000501110.2:n.*2673G>A
ENST00000673882.2:c.*2462G>A	ENSP00000501253.2:n.*2462G>A
ENST00000673739.1:c.3081G>A	ENSP00000501110.1:n.3081G>A
ENST00000673882.1:c.2870G>A	ENSP00000501253.1:n.2870G>A
ENST00000233242.5:c.3367G>A MANE Select	ENSP00000233242.1:p.Val1123Ile
ENST00000616098.4:c.3367G>A	ENSP00000477990.1:p.Val1123Ile
NM_000384.2:c.3367G>A	NP_000375.2:p.Val1123Ile
XM_011532809.1:c.3367G>A	XP_011531111.1:p.Val1123Ile
NM_000384.3:c.3367G>A MANE Select	NP_000375.3:p.Val1123Ile