Canonical Allele Identifier: CA022812
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 189305
dbSNP Id: rs145142090
gnomAD v2: 2-21246416-A-G
gnomAD v3: 2-21023544-A-G
gnomAD v4: 2-21023544-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21023544A>G , CM000664.2:g.21023544A>G GRCh38
NC_000002.11:g.21246416A>G , CM000664.1:g.21246416A>G GRCh37
NC_000002.10:g.21099921A>G NCBI36
NG_011793.1:g.25530T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000673739.2:c.*1891T>C ENSP00000501110.2:n.*1891T>C
ENST00000673882.2:c.*1891T>C ENSP00000501253.2:n.*1891T>C
ENST00000673739.1:c.2299T>C ENSP00000501110.1:n.2299T>C
ENST00000673882.1:c.2299T>C ENSP00000501253.1:n.2299T>C
ENST00000233242.5:c.2585T>C MANE Select ENSP00000233242.1:p.Val862Ala
ENST00000616098.4:c.2585T>C ENSP00000477990.1:p.Val862Ala
NM_000384.2:c.2585T>C NP_000375.2:p.Val862Ala
XM_011532809.1:c.2585T>C XP_011531111.1:p.Val862Ala
NM_000384.3:c.2585T>C MANE Select NP_000375.3:p.Val862Ala