Canonical Allele Identifier: CA2658046580
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21023174-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21023174T>G , CM000664.2:g.21023174T>G GRCh38
NC_000002.11:g.21246046T>G , CM000664.1:g.21246046T>G GRCh37
NC_000002.10:g.21099551T>G NCBI36
NG_011793.1:g.25900A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*1911-132A>C ENSP00000501110.2:n.*1911-132A>C
ENST00000673882.2:c.*1911-132A>C ENSP00000501253.2:n.*1911-132A>C
ENST00000673739.1:c.2319-132A>C ENSP00000501110.1:n.2319-132A>C
ENST00000673882.1:c.2319-132A>C ENSP00000501253.1:n.2319-132A>C
ENST00000233242.5:c.2605-132A>C MANE Select ENSP00000233242.1:n.2605-132A>C
ENST00000616098.4:c.2605-132A>C ENSP00000477990.1:n.2605-132A>C
NM_000384.2:c.2605-132A>C NP_000375.2:n.2605-132A>C
XM_011532809.1:c.2605-132A>C XP_011531111.1:n.2605-132A>C
NM_000384.3:c.2605-132A>C MANE Select NP_000375.3:n.2605-132A>C
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