Canonical Allele Identifier: CA383982050

Gene: PLBD1

Linked Data

• MyVariant Identifiers: chr12:g.14659929A>T (hg19) ; chr12:g.14506995A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14506995A>T , CM000674.2:g.14506995A>T	GRCh38
NC_000012.11:g.14659929A>T , CM000674.1:g.14659929A>T	GRCh37
NC_000012.10:g.14551196A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240617.10:c.1310T>A MANE Select	ENSP00000240617.5:p.Phe437Tyr
ENST00000240617.9:c.1310T>A	ENSP00000240617.5:p.Phe437Tyr
NM_024829.5:c.1310T>A	NP_079105.4:p.Phe437Tyr
NM_024829.6:c.1310T>A MANE Select	NP_079105.4:p.Phe437Tyr