Canonical Allele Identifier: CA022817
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 128422
ClinVar RCV Id: RCV000116386 RCV000256320 RCV000324495 RCV000771030 RCV000845576 RCV001094606
dbSNP Id: rs1367117
ExAC: 2:21263900 G / A
gnomAD v2: 2-21263900-G-A
gnomAD v3: 2-21041028-G-A
gnomAD v4: 2-21041028-G-A
MyVariant Identifiers: chr2:g.21263900G>A (hg19) chr2:g.21041028G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21041028G>A , CM000664.2:g.21041028G>A GRCh38
NC_000002.11:g.21263900G>A , CM000664.1:g.21263900G>A GRCh37
NC_000002.10:g.21117405G>A NCBI36
NG_011793.1:g.8046C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000673739.2:c.293C>T ENSP00000501110.2:p.Thr98Ile
ENST00000673882.2:c.293C>T ENSP00000501253.2:p.Thr98Ile
ENST00000673739.1:c.161C>T ENSP00000501110.1:p.Thr54Ile
ENST00000673882.1:c.161C>T ENSP00000501253.1:p.Thr54Ile
ENST00000233242.5:c.293C>T MANE Select ENSP00000233242.1:p.Thr98Ile
ENST00000399256.4:c.293C>T ENSP00000382200.4:p.Thr98Ile
ENST00000616098.4:c.293C>T ENSP00000477990.1:p.Thr98Ile
NM_000384.2:c.293C>T NP_000375.2:p.Thr98Ile
XM_011532809.1:c.293C>T XP_011531111.1:p.Thr98Ile
NM_000384.3:c.293C>T MANE Select NP_000375.3:p.Thr98Ile
Search 100 bp 5'
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