Canonical Allele Identifier: CA2017888329
Gene: PLBD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506956A= , CM000674.2:g.14506956A= GRCh38
NC_000012.11:g.14659890A= , CM000674.1:g.14659890A= GRCh37
NC_000012.10:g.14551157A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1349T= MANE Select ENSP00000240617.5:p.Met450=
ENST00000240617.9:c.1349T= ENSP00000240617.5:p.Met450=
NM_024829.5:c.1349T= NP_079105.4:p.Met450=
NM_024829.6:c.1349T= MANE Select NP_079105.4:p.Met450=