Canonical Allele Identifier: CA383982111

Gene: PLBD1

Linked Data

• dbSNP Id: rs1945261912
• gnomAD v4: 12-14507025-G-C
• MyVariant Identifiers: chr12:g.14659959G>C (hg19) ; chr12:g.14507025G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14507025G>C , CM000674.2:g.14507025G>C	GRCh38
NC_000012.11:g.14659959G>C , CM000674.1:g.14659959G>C	GRCh37
NC_000012.10:g.14551226G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240617.10:c.1280C>G MANE Select	ENSP00000240617.5:p.Ser427Cys
ENST00000240617.9:c.1280C>G	ENSP00000240617.5:p.Ser427Cys
NM_024829.5:c.1280C>G	NP_079105.4:p.Ser427Cys
NM_024829.6:c.1280C>G MANE Select	NP_079105.4:p.Ser427Cys