Canonical Allele Identifier: CA346011185

Gene: APOB

Linked Data

• COSMIC: COSM6287697
• MyVariant Identifiers: chr2:g.21246519G>T (hg19) ; chr2:g.21023647G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21023647G>T , CM000664.2:g.21023647G>T	GRCh38
NC_000002.11:g.21246519G>T , CM000664.1:g.21246519G>T	GRCh37
NC_000002.10:g.21100024G>T	NCBI36
NG_011793.1:g.25427C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*1788C>A	ENSP00000501110.2:n.*1788C>A
ENST00000673882.2:c.*1788C>A	ENSP00000501253.2:n.*1788C>A
ENST00000673739.1:c.2196C>A	ENSP00000501110.1:n.2196C>A
ENST00000673882.1:c.2196C>A	ENSP00000501253.1:n.2196C>A
ENST00000233242.5:c.2482C>A MANE Select	ENSP00000233242.1:p.His828Asn
ENST00000616098.4:c.2482C>A	ENSP00000477990.1:p.His828Asn
NM_000384.2:c.2482C>A	NP_000375.2:p.His828Asn
XM_011532809.1:c.2482C>A	XP_011531111.1:p.His828Asn
NM_000384.3:c.2482C>A MANE Select	NP_000375.3:p.His828Asn