Canonical Allele Identifier: CA054494

Gene: APOB

Linked Data

• dbSNP Id: rs772221575
• ExAC: 2:21251281 A / G
• gnomAD v2: 2-21251281-A-G
• gnomAD v4: 2-21028409-A-G
• MyVariant Identifiers: chr2:g.21251281A>G (hg19) ; chr2:g.21028409A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21028409A>G , CM000664.2:g.21028409A>G	GRCh38
NC_000002.11:g.21251281A>G , CM000664.1:g.21251281A>G	GRCh37
NC_000002.10:g.21104786A>G	NCBI36
NG_011793.1:g.20665T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000673739.2:c.*1053T>C	ENSP00000501110.2:n.*1053T>C
ENST00000673882.2:c.*1053T>C	ENSP00000501253.2:n.*1053T>C
ENST00000673739.1:c.1461T>C	ENSP00000501110.1:n.1461T>C
ENST00000673882.1:c.1461T>C	ENSP00000501253.1:n.1461T>C
ENST00000233242.5:c.1747T>C MANE Select	ENSP00000233242.1:p.Trp583Arg
ENST00000399256.4:c.1747T>C	ENSP00000382200.4:p.Trp583Arg
ENST00000616098.4:c.1747T>C	ENSP00000477990.1:p.Trp583Arg
NM_000384.2:c.1747T>C	NP_000375.2:p.Trp583Arg
XM_011532809.1:c.1747T>C	XP_011531111.1:p.Trp583Arg
NM_000384.3:c.1747T>C MANE Select	NP_000375.3:p.Trp583Arg