Canonical Allele Identifier: CA383982330

Gene: PLBD1

Linked Data

• dbSNP Id: rs1945262808
• gnomAD v4: 12-14507115-T-C
• MyVariant Identifiers: chr12:g.14660049T>C (hg19) ; chr12:g.14507115T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14507115T>C , CM000674.2:g.14507115T>C	GRCh38
NC_000012.11:g.14660049T>C , CM000674.1:g.14660049T>C	GRCh37
NC_000012.10:g.14551316T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240617.10:c.1190A>G MANE Select	ENSP00000240617.5:p.Tyr397Cys
ENST00000240617.9:c.1190A>G	ENSP00000240617.5:p.Tyr397Cys
NM_024829.5:c.1190A>G	NP_079105.4:p.Tyr397Cys
NM_024829.6:c.1190A>G MANE Select	NP_079105.4:p.Tyr397Cys