Canonical Allele Identifier: CA346009076

Gene: APOB

Linked Data

• MyVariant Identifiers: chr2:g.21238307A>C (hg19) ; chr2:g.21015435A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015435A>C , CM000664.2:g.21015435A>C	GRCh38
NC_000002.11:g.21238307A>C , CM000664.1:g.21238307A>C	GRCh37
NC_000002.10:g.21091812A>C	NCBI36
NG_011793.1:g.33639T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2749T>G	ENSP00000501110.2:n.*2749T>G
ENST00000673882.2:c.*2538T>G	ENSP00000501253.2:n.*2538T>G
ENST00000673739.1:c.3157T>G	ENSP00000501110.1:n.3157T>G
ENST00000673882.1:c.2946T>G	ENSP00000501253.1:n.2946T>G
ENST00000233242.5:c.3443T>G MANE Select	ENSP00000233242.1:p.Leu1148Arg
ENST00000616098.4:c.3443T>G	ENSP00000477990.1:p.Leu1148Arg
NM_000384.2:c.3443T>G	NP_000375.2:p.Leu1148Arg
XM_011532809.1:c.3443T>G	XP_011531111.1:p.Leu1148Arg
NM_000384.3:c.3443T>G MANE Select	NP_000375.3:p.Leu1148Arg