Canonical Allele Identifier: CA346007660

Gene: APOB

Linked Data

• MyVariant Identifiers: chr2:g.21236164C>A (hg19) ; chr2:g.21013292C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21013292C>A , CM000664.2:g.21013292C>A	GRCh38
NC_000002.11:g.21236164C>A , CM000664.1:g.21236164C>A	GRCh37
NC_000002.10:g.21089669C>A	NCBI36
NG_011793.1:g.35782G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*3390G>T	ENSP00000501110.2:n.*3390G>T
ENST00000673739.1:c.3798G>T	ENSP00000501110.1:n.3798G>T
ENST00000233242.5:c.4084G>T MANE Select	ENSP00000233242.1:p.Val1362Phe
ENST00000616098.4:c.4084G>T	ENSP00000477990.1:p.Val1362Phe
NM_000384.2:c.4084G>T	NP_000375.2:p.Val1362Phe
XM_011532809.1:c.4084G>T	XP_011531111.1:p.Val1362Phe
NM_000384.3:c.4084G>T MANE Select	NP_000375.3:p.Val1362Phe