Canonical Allele Identifier: CA058742
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 925766
dbSNP Id: rs769299791
gnomAD v2: 2-21238350-T-C
gnomAD v3: 2-21015478-T-C
gnomAD v4: 2-21015478-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21015478T>C , CM000664.2:g.21015478T>C GRCh38
NC_000002.11:g.21238350T>C , CM000664.1:g.21238350T>C GRCh37
NC_000002.10:g.21091855T>C NCBI36
NG_011793.1:g.33596A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2706A>G ENSP00000501110.2:n.*2706A>G
ENST00000673882.2:c.*2495A>G ENSP00000501253.2:n.*2495A>G
ENST00000673739.1:c.3114A>G ENSP00000501110.1:n.3114A>G
ENST00000673882.1:c.2903A>G ENSP00000501253.1:n.2903A>G
ENST00000233242.5:c.3400A>G MANE Select ENSP00000233242.1:p.Arg1134Gly
ENST00000616098.4:c.3400A>G ENSP00000477990.1:p.Arg1134Gly
NM_000384.2:c.3400A>G NP_000375.2:p.Arg1134Gly
XM_011532809.1:c.3400A>G XP_011531111.1:p.Arg1134Gly
NM_000384.3:c.3400A>G MANE Select NP_000375.3:p.Arg1134Gly