Canonical Allele Identifier: CA346007676

Gene: APOB

Linked Data

• gnomAD v4: 2-21013300-G-A
• MyVariant Identifiers: chr2:g.21236172G>A (hg19) ; chr2:g.21013300G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21013300G>A , CM000664.2:g.21013300G>A	GRCh38
NC_000002.11:g.21236172G>A , CM000664.1:g.21236172G>A	GRCh37
NC_000002.10:g.21089677G>A	NCBI36
NG_011793.1:g.35774C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000673739.2:c.*3382C>T	ENSP00000501110.2:n.*3382C>T
ENST00000673882.2:c.*3171C>T	ENSP00000501253.2:n.*3171C>T
ENST00000673739.1:c.3790C>T	ENSP00000501110.1:n.3790C>T
ENST00000673882.1:c.3579C>T	ENSP00000501253.1:n.3579C>T
ENST00000233242.5:c.4076C>T MANE Select	ENSP00000233242.1:p.Ser1359Phe
ENST00000616098.4:c.4076C>T	ENSP00000477990.1:p.Ser1359Phe
NM_000384.2:c.4076C>T	NP_000375.2:p.Ser1359Phe
XM_011532809.1:c.4076C>T	XP_011531111.1:p.Ser1359Phe
NM_000384.3:c.4076C>T MANE Select	NP_000375.3:p.Ser1359Phe