Canonical Allele Identifier: CA022801
Gene: APOB HGNC NCBI
ClinVar RCV:
RCV000116384
RCV000256290
RCV000295735
RCV000771026
RCV000845574
RCV001094640
RCV001837455
RCV002408617
ClinVar Variation:
128420
dbSNP:
679899
gnomAD v2:
2:21250914 G / A
gnomAD v3:
2:21028042 G / A
gnomAD v4:
chr2-21028042-G-A
Joint Max Group AF 0.85494145 (EAS)
Genomes Max Group AF 0.8316581 (EAS)
Exomes Max Group AF 0.85571686 (EAS)
MyVariant.info:
GRCh38 chr2:g.21028042G>A
GRCh37 chr2:g.21250914G>A
Revel Score:
ENST00000233242 (MANE Select) 0.429
ENST00000535079 0.429
ENST00000399256 0.429
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21028042G>A , CM000664.2:g.21028042G>A GRCh38
NC_000002.11:g.21250914G>A , CM000664.1:g.21250914G>A GRCh37
NC_000002.10:g.21104419G>A NCBI36
NG_011793.1:g.21032C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*1159C>T ENSP00000501110.2:n.*1159C>T
ENST00000673882.2:c.*1159C>T ENSP00000501253.2:n.*1159C>T
ENST00000673739.1:c.1567C>T ENSP00000501110.1:n.1567C>T
ENST00000673882.1:c.1567C>T ENSP00000501253.1:n.1567C>T
ENST00000233242.5:c.1853C>T MANE Select ENSP00000233242.1:p.Ala618Val
ENST00000399256.4:c.1853C>T ENSP00000382200.4:p.Ala618Val
ENST00000616098.4:c.1853C>T ENSP00000477990.1:p.Ala618Val
NM_000384.2:c.1853C>T NP_000375.2:p.Ala618Val
XM_011532809.1:c.1853C>T XP_011531111.1:p.Ala618Val
NM_000384.3:c.1853C>T MANE Select NP_000375.3:p.Ala618Val
Search 100 bp 5'
Search 100 bp 3'