Canonical Allele Identifier: CA383982280

Gene: PLBD1

Linked Data

• MyVariant Identifiers: chr12:g.14660034T>A (hg19) ; chr12:g.14507100T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14507100T>A , CM000674.2:g.14507100T>A	GRCh38
NC_000012.11:g.14660034T>A , CM000674.1:g.14660034T>A	GRCh37
NC_000012.10:g.14551301T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240617.10:c.1205A>T MANE Select	ENSP00000240617.5:p.Asn402Ile
ENST00000240617.9:c.1205A>T	ENSP00000240617.5:p.Asn402Ile
NM_024829.5:c.1205A>T	NP_079105.4:p.Asn402Ile
NM_024829.6:c.1205A>T MANE Select	NP_079105.4:p.Asn402Ile