Canonical Allele Identifier: CA2017888337
Gene: PLBD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506975C= , CM000674.2:g.14506975C= GRCh38
NC_000012.11:g.14659909C= , CM000674.1:g.14659909C= GRCh37
NC_000012.10:g.14551176C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1330G= MANE Select ENSP00000240617.5:p.Val444=
ENST00000240617.9:c.1330G= ENSP00000240617.5:p.Val444=
NM_024829.5:c.1330G= NP_079105.4:p.Val444=
NM_024829.6:c.1330G= MANE Select NP_079105.4:p.Val444=