Canonical Allele Identifier: CA383982147
Gene: PLBD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.14659975G>C (hg19) chr12:g.14507041G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507041G>C , CM000674.2:g.14507041G>C GRCh38
NC_000012.11:g.14659975G>C , CM000674.1:g.14659975G>C GRCh37
NC_000012.10:g.14551242G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1264C>G MANE Select ENSP00000240617.5:p.Leu422Val
ENST00000240617.9:c.1264C>G ENSP00000240617.5:p.Leu422Val
NM_024829.5:c.1264C>G NP_079105.4:p.Leu422Val
NM_024829.6:c.1264C>G MANE Select NP_079105.4:p.Leu422Val
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