Canonical Allele Identifier: CA054568

Gene: APOB

Linked Data

• ClinVar Variation Id: 630519
• ClinVar RCV Id: RCV001838202 ; RCV002406699
• dbSNP Id: rs543224958
• ExAC: 2:21251234 G / A
• gnomAD v2: 2-21251234-G-A
• gnomAD v3: 2-21028362-G-A
• gnomAD v4: 2-21028362-G-A
• MyVariant Identifiers: chr2:g.21251234G>A (hg19) ; chr2:g.21028362G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21028362G>A , CM000664.2:g.21028362G>A	GRCh38
NC_000002.11:g.21251234G>A , CM000664.1:g.21251234G>A	GRCh37
NC_000002.10:g.21104739G>A	NCBI36
NG_011793.1:g.20712C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*1100C>T	ENSP00000501110.2:n.*1100C>T
ENST00000673882.2:c.*1100C>T	ENSP00000501253.2:n.*1100C>T
ENST00000673739.1:c.1508C>T	ENSP00000501110.1:n.1508C>T
ENST00000673882.1:c.1508C>T	ENSP00000501253.1:n.1508C>T
ENST00000233242.5:c.1794C>T MANE Select	ENSP00000233242.1:p.Ala598=
ENST00000399256.4:c.1794C>T	ENSP00000382200.4:p.Ala598=
ENST00000616098.4:c.1794C>T	ENSP00000477990.1:p.Ala598=
NM_000384.2:c.1794C>T	NP_000375.2:p.Ala598=
XM_011532809.1:c.1794C>T	XP_011531111.1:p.Ala598=
NM_000384.3:c.1794C>T MANE Select	NP_000375.3:p.Ala598=