Canonical Allele Identifier: CA2017888417
Gene: PLBD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507135G= , CM000674.2:g.14507135G= GRCh38
NC_000012.11:g.14660069G= , CM000674.1:g.14660069G= GRCh37
NC_000012.10:g.14551336G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1187-17C= MANE Select ENSP00000240617.5:n.1187-17C=
ENST00000240617.9:c.1187-17C= ENSP00000240617.5:n.1187-17C=
NM_024829.5:c.1187-17C= NP_079105.4:n.1187-17C=
NM_024829.6:c.1187-17C= MANE Select NP_079105.4:n.1187-17C=