Canonical Allele Identifier: CA346008517

Gene: APOB

Linked Data

• MyVariant Identifiers: chr2:g.21237952A>T (hg19) ; chr2:g.21015080A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015080A>T , CM000664.2:g.21015080A>T	GRCh38
NC_000002.11:g.21237952A>T , CM000664.1:g.21237952A>T	GRCh37
NC_000002.10:g.21091457A>T	NCBI36
NG_011793.1:g.33994T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2995T>A	ENSP00000501110.2:n.*2995T>A
ENST00000673882.2:c.*2784T>A	ENSP00000501253.2:n.*2784T>A
ENST00000673739.1:c.3403T>A	ENSP00000501110.1:n.3403T>A
ENST00000673882.1:c.3192T>A	ENSP00000501253.1:n.3192T>A
ENST00000233242.5:c.3689T>A MANE Select	ENSP00000233242.1:p.Leu1230Ter
ENST00000616098.4:c.3689T>A	ENSP00000477990.1:p.Leu1230Ter
NM_000384.2:c.3689T>A	NP_000375.2:p.Leu1230Ter
XM_011532809.1:c.3689T>A	XP_011531111.1:p.Leu1230Ter
NM_000384.3:c.3689T>A MANE Select	NP_000375.3:p.Leu1230Ter