Canonical Allele Identifier: CA478705072
Gene: PLBD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.14659975G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507041G>A , CM000674.2:g.14507041G>A GRCh38
NC_000012.11:g.14659975G>A , CM000674.1:g.14659975G>A GRCh37
NC_000012.10:g.14551242G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1264C>T MANE Select ENSP00000240617.5:p.Leu422=
ENST00000240617.9:c.1264C>T ENSP00000240617.5:p.Leu422=
NM_024829.5:c.1264C>T NP_079105.4:p.Leu422=
NM_024829.6:c.1264C>T MANE Select NP_079105.4:p.Leu422=