Canonical Allele Identifier: CA346009084

Gene: APOB

Linked Data

• MyVariant Identifiers: chr2:g.21238311G>C (hg19) ; chr2:g.21015439G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015439G>C , CM000664.2:g.21015439G>C	GRCh38
NC_000002.11:g.21238311G>C , CM000664.1:g.21238311G>C	GRCh37
NC_000002.10:g.21091816G>C	NCBI36
NG_011793.1:g.33635C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2745C>G	ENSP00000501110.2:n.*2745C>G
ENST00000673882.2:c.*2534C>G	ENSP00000501253.2:n.*2534C>G
ENST00000673739.1:c.3153C>G	ENSP00000501110.1:n.3153C>G
ENST00000673882.1:c.2942C>G	ENSP00000501253.1:n.2942C>G
ENST00000233242.5:c.3439C>G MANE Select	ENSP00000233242.1:p.Leu1147Val
ENST00000616098.4:c.3439C>G	ENSP00000477990.1:p.Leu1147Val
NM_000384.2:c.3439C>G	NP_000375.2:p.Leu1147Val
XM_011532809.1:c.3439C>G	XP_011531111.1:p.Leu1147Val
NM_000384.3:c.3439C>G MANE Select	NP_000375.3:p.Leu1147Val