Canonical Allele Identifier: CA383982168

Gene: PLBD1

Linked Data

• dbSNP Id: rs889394151
• gnomAD v3: 12-14507050-C-T
• gnomAD v4: 12-14507050-C-T
• MyVariant Identifiers: chr12:g.14659984C>T (hg19) ; chr12:g.14507050C>T (hg38)

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