Canonical Allele Identifier: CA345967038
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 921145
ClinVar RCV Id: RCV001180400
dbSNP Id: rs1350773223
gnomAD v3: 2-21001822-A-T
gnomAD v4: 2-21001822-A-T
MyVariant Identifiers: chr2:g.21224694A>T (hg19) chr2:g.21001822A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001822A>T , CM000664.2:g.21001822A>T GRCh38
NC_000002.11:g.21224694A>T , CM000664.1:g.21224694A>T GRCh37
NC_000002.10:g.21078199A>T NCBI36
NG_011793.1:g.47252T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13600T>A MANE Select ENSP00000233242.1:p.Tyr4534Asn
ENST00000616098.4:c.13598T>A ENSP00000477990.1:n.13598T>A
NM_000384.2:c.13600T>A NP_000375.2:p.Tyr4534Asn
XM_011532809.1:c.5870-2549T>A XP_011531111.1:n.5870-2549T>A
NM_000384.3:c.13600T>A MANE Select NP_000375.3:p.Tyr4534Asn
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