Canonical Allele Identifier: CA383982209
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs1159678735

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507070C>A , CM000674.2:g.14507070C>A GRCh38
NC_000012.11:g.14660004C>A , CM000674.1:g.14660004C>A GRCh37
NC_000012.10:g.14551271C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1235G>T MANE Select ENSP00000240617.5:p.Trp412Leu
ENST00000240617.9:c.1235G>T ENSP00000240617.5:p.Trp412Leu
NM_024829.5:c.1235G>T NP_079105.4:p.Trp412Leu
NM_024829.6:c.1235G>T MANE Select NP_079105.4:p.Trp412Leu