Canonical Allele Identifier: CA346014172

Gene: APOB

Linked Data

• MyVariant Identifiers: chr2:g.21251211A>C (hg19) ; chr2:g.21028339A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21028339A>C , CM000664.2:g.21028339A>C	GRCh38
NC_000002.11:g.21251211A>C , CM000664.1:g.21251211A>C	GRCh37
NC_000002.10:g.21104716A>C	NCBI36
NG_011793.1:g.20735T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*1123T>G	ENSP00000501110.2:n.*1123T>G
ENST00000673882.2:c.*1123T>G	ENSP00000501253.2:n.*1123T>G
ENST00000673739.1:c.1531T>G	ENSP00000501110.1:n.1531T>G
ENST00000673882.1:c.1531T>G	ENSP00000501253.1:n.1531T>G
ENST00000233242.5:c.1817T>G MANE Select	ENSP00000233242.1:p.Leu606Trp
ENST00000399256.4:c.1817T>G	ENSP00000382200.4:p.Leu606Trp
ENST00000616098.4:c.1817T>G	ENSP00000477990.1:p.Leu606Trp
NM_000384.2:c.1817T>G	NP_000375.2:p.Leu606Trp
XM_011532809.1:c.1817T>G	XP_011531111.1:p.Leu606Trp
NM_000384.3:c.1817T>G MANE Select	NP_000375.3:p.Leu606Trp