Canonical Allele Identifier: CA383982036
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs1415246090
MyVariant Identifiers: chr12:g.14659921C>A (hg19) chr12:g.14506987C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506987C>A , CM000674.2:g.14506987C>A GRCh38
NC_000012.11:g.14659921C>A , CM000674.1:g.14659921C>A GRCh37
NC_000012.10:g.14551188C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1318G>T MANE Select ENSP00000240617.5:p.Asp440Tyr
ENST00000240617.9:c.1318G>T ENSP00000240617.5:p.Asp440Tyr
NM_024829.5:c.1318G>T NP_079105.4:p.Asp440Tyr
NM_024829.6:c.1318G>T MANE Select NP_079105.4:p.Asp440Tyr
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