Canonical Allele Identifier: CA383982168
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs889394151

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507050C>T , CM000674.2:g.14507050C>T GRCh38
NC_000012.11:g.14659984C>T , CM000674.1:g.14659984C>T GRCh37
NC_000012.10:g.14551251C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1255G>A MANE Select ENSP00000240617.5:p.Val419Ile
ENST00000240617.9:c.1255G>A ENSP00000240617.5:p.Val419Ile
NM_024829.5:c.1255G>A NP_079105.4:p.Val419Ile
NM_024829.6:c.1255G>A MANE Select NP_079105.4:p.Val419Ile