Canonical Allele Identifier: CA2017888476
Gene: PLBD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507254C= , CM000674.2:g.14507254C= GRCh38
NC_000012.11:g.14660188C= , CM000674.1:g.14660188C= GRCh37
NC_000012.10:g.14551455C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1187-136G= MANE Select ENSP00000240617.5:n.1187-136G=
ENST00000240617.9:c.1187-136G= ENSP00000240617.5:n.1187-136G=
NM_024829.5:c.1187-136G= NP_079105.4:n.1187-136G=
NM_024829.6:c.1187-136G= MANE Select NP_079105.4:n.1187-136G=