Canonical Allele Identifier: CA058720

Gene: APOB

Linked Data

• dbSNP Id: rs777147032
• ExAC: 2:21238363 C / A
• gnomAD v2: 2-21238363-C-A
• MyVariant Identifiers: chr2:g.21238363C>A (hg19) ; chr2:g.21015491C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015491C>A , CM000664.2:g.21015491C>A	GRCh38
NC_000002.11:g.21238363C>A , CM000664.1:g.21238363C>A	GRCh37
NC_000002.10:g.21091868C>A	NCBI36
NG_011793.1:g.33583G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2693G>T	ENSP00000501110.2:n.*2693G>T
ENST00000673882.2:c.*2482G>T	ENSP00000501253.2:n.*2482G>T
ENST00000673739.1:c.3101G>T	ENSP00000501110.1:n.3101G>T
ENST00000673882.1:c.2890G>T	ENSP00000501253.1:n.2890G>T
ENST00000233242.5:c.3387G>T MANE Select	ENSP00000233242.1:p.Leu1129Phe
ENST00000616098.4:c.3387G>T	ENSP00000477990.1:p.Leu1129Phe
NM_000384.2:c.3387G>T	NP_000375.2:p.Leu1129Phe
XM_011532809.1:c.3387G>T	XP_011531111.1:p.Leu1129Phe
NM_000384.3:c.3387G>T MANE Select	NP_000375.3:p.Leu1129Phe