Canonical Allele Identifier: CA383982321

Gene: PLBD1

Linked Data

• gnomAD v4: 12-14507113-A-G
• MyVariant Identifiers: chr12:g.14660047A>G (hg19) ; chr12:g.14507113A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14507113A>G , CM000674.2:g.14507113A>G	GRCh38
NC_000012.11:g.14660047A>G , CM000674.1:g.14660047A>G	GRCh37
NC_000012.10:g.14551314A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240617.10:c.1192T>C MANE Select	ENSP00000240617.5:p.Trp398Arg
ENST00000240617.9:c.1192T>C	ENSP00000240617.5:p.Trp398Arg
NM_024829.5:c.1192T>C	NP_079105.4:p.Trp398Arg
NM_024829.6:c.1192T>C MANE Select	NP_079105.4:p.Trp398Arg