Canonical Allele Identifier: CA345967389
Gene: APOB HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.21224847C>G (hg19) chr2:g.21001975C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001975C>G , CM000664.2:g.21001975C>G GRCh38
NC_000002.11:g.21224847C>G , CM000664.1:g.21224847C>G GRCh37
NC_000002.10:g.21078352C>G NCBI36
NG_011793.1:g.47099G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13447G>C MANE Select ENSP00000233242.1:p.Ala4483Pro
ENST00000616098.4:c.13445G>C ENSP00000477990.1:n.13445G>C
NM_000384.2:c.13447G>C NP_000375.2:p.Ala4483Pro
XM_011532809.1:c.5870-2702G>C XP_011531111.1:n.5870-2702G>C
NM_000384.3:c.13447G>C MANE Select NP_000375.3:p.Ala4483Pro
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