Canonical Allele Identifier: CA2017888323
Gene: PLBD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506944A= , CM000674.2:g.14506944A= GRCh38
NC_000012.11:g.14659878A= , CM000674.1:g.14659878A= GRCh37
NC_000012.10:g.14551145A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1361T= MANE Select ENSP00000240617.5:p.Met454=
ENST00000240617.9:c.1361T= ENSP00000240617.5:p.Met454=
NM_024829.5:c.1361T= NP_079105.4:p.Met454=
NM_024829.6:c.1361T= MANE Select NP_079105.4:p.Met454=