Canonical Allele Identifier: CA2017888361
Gene: PLBD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507019T= , CM000674.2:g.14507019T= GRCh38
NC_000012.11:g.14659953T= , CM000674.1:g.14659953T= GRCh37
NC_000012.10:g.14551220T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1286A= MANE Select ENSP00000240617.5:p.Asp429=
ENST00000240617.9:c.1286A= ENSP00000240617.5:p.Asp429=
NM_024829.5:c.1286A= NP_079105.4:p.Asp429=
NM_024829.6:c.1286A= MANE Select NP_079105.4:p.Asp429=