Canonical Allele Identifier: CA054504
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 420652
ClinVar RCV Id: RCV000481136
dbSNP Id: rs140101603
ExAC: 2:21251275 G / T
gnomAD v2: 2-21251275-G-T
gnomAD v3: 2-21028403-G-T
gnomAD v4: 2-21028403-G-T
MyVariant Identifiers: chr2:g.21251275G>T (hg19) chr2:g.21028403G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21028403G>T , CM000664.2:g.21028403G>T GRCh38
NC_000002.11:g.21251275G>T , CM000664.1:g.21251275G>T GRCh37
NC_000002.10:g.21104780G>T NCBI36
NG_011793.1:g.20671C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000673739.2:c.*1059C>A ENSP00000501110.2:n.*1059C>A
ENST00000673882.2:c.*1059C>A ENSP00000501253.2:n.*1059C>A
ENST00000673739.1:c.1467C>A ENSP00000501110.1:n.1467C>A
ENST00000673882.1:c.1467C>A ENSP00000501253.1:n.1467C>A
ENST00000233242.5:c.1753C>A MANE Select ENSP00000233242.1:p.Gln585Lys
ENST00000399256.4:c.1753C>A ENSP00000382200.4:p.Gln585Lys
ENST00000616098.4:c.1753C>A ENSP00000477990.1:p.Gln585Lys
NM_000384.2:c.1753C>A NP_000375.2:p.Gln585Lys
XM_011532809.1:c.1753C>A XP_011531111.1:p.Gln585Lys
NM_000384.3:c.1753C>A MANE Select NP_000375.3:p.Gln585Lys
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