Canonical Allele Identifier: CA345997560

Gene: APOB

Linked Data

• MyVariant Identifiers: chr2:g.21232485A>T (hg19) ; chr2:g.21009613A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21009613A>T , CM000664.2:g.21009613A>T	GRCh38
NC_000002.11:g.21232485A>T , CM000664.1:g.21232485A>T	GRCh37
NC_000002.10:g.21085990A>T	NCBI36
NG_011793.1:g.39461T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.7255T>A MANE Select	ENSP00000233242.1:p.Phe2419Ile
ENST00000616098.4:c.7255T>A	ENSP00000477990.1:p.Phe2419Ile
NM_000384.2:c.7255T>A	NP_000375.2:p.Phe2419Ile
XM_011532809.1:c.5869+1120T>A	XP_011531111.1:n.5869+1120T>A
NM_000384.3:c.7255T>A MANE Select	NP_000375.3:p.Phe2419Ile