Canonical Allele Identifier: CA383982315

Gene: PLBD1

Linked Data

• dbSNP Id: rs1407969555
• gnomAD v2: 12-14660046-C-G
• MyVariant Identifiers: chr12:g.14660046C>G (hg19) ; chr12:g.14507112C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14507112C>G , CM000674.2:g.14507112C>G	GRCh38
NC_000012.11:g.14660046C>G , CM000674.1:g.14660046C>G	GRCh37
NC_000012.10:g.14551313C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240617.10:c.1193G>C MANE Select	ENSP00000240617.5:p.Trp398Ser
ENST00000240617.9:c.1193G>C	ENSP00000240617.5:p.Trp398Ser
NM_024829.5:c.1193G>C	NP_079105.4:p.Trp398Ser
NM_024829.6:c.1193G>C MANE Select	NP_079105.4:p.Trp398Ser