Canonical Allele Identifier: CA346008919

Gene: APOB

Linked Data

• COSMIC: COSM287440
• MyVariant Identifiers: chr2:g.21238130C>T (hg19) ; chr2:g.21015258C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015258C>T , CM000664.2:g.21015258C>T	GRCh38
NC_000002.11:g.21238130C>T , CM000664.1:g.21238130C>T	GRCh37
NC_000002.10:g.21091635C>T	NCBI36
NG_011793.1:g.33816G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2817G>A	ENSP00000501110.2:n.*2817G>A
ENST00000673882.2:c.*2606G>A	ENSP00000501253.2:n.*2606G>A
ENST00000673739.1:c.3225G>A	ENSP00000501110.1:n.3225G>A
ENST00000673882.1:c.3014G>A	ENSP00000501253.1:n.3014G>A
ENST00000233242.5:c.3511G>A MANE Select	ENSP00000233242.1:p.Glu1171Lys
ENST00000616098.4:c.3511G>A	ENSP00000477990.1:p.Glu1171Lys
NM_000384.2:c.3511G>A	NP_000375.2:p.Glu1171Lys
XM_011532809.1:c.3511G>A	XP_011531111.1:p.Glu1171Lys
NM_000384.3:c.3511G>A MANE Select	NP_000375.3:p.Glu1171Lys