Canonical Allele Identifier: CA346007659

Gene: APOB

Linked Data

• COSMIC: COSM1614281
• MyVariant Identifiers: chr2:g.21236163A>G (hg19) ; chr2:g.21013291A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21013291A>G , CM000664.2:g.21013291A>G	GRCh38
NC_000002.11:g.21236163A>G , CM000664.1:g.21236163A>G	GRCh37
NC_000002.10:g.21089668A>G	NCBI36
NG_011793.1:g.35783T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000673739.2:c.*3391T>C	ENSP00000501110.2:n.*3391T>C
ENST00000673739.1:c.3799T>C	ENSP00000501110.1:n.3799T>C
ENST00000233242.5:c.4085T>C MANE Select	ENSP00000233242.1:p.Val1362Ala
ENST00000616098.4:c.4085T>C	ENSP00000477990.1:p.Val1362Ala
NM_000384.2:c.4085T>C	NP_000375.2:p.Val1362Ala
XM_011532809.1:c.4085T>C	XP_011531111.1:p.Val1362Ala
NM_000384.3:c.4085T>C MANE Select	NP_000375.3:p.Val1362Ala