Canonical Allele Identifier: CA478705112
Gene: PLBD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.14660012G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507078G>T , CM000674.2:g.14507078G>T GRCh38
NC_000012.11:g.14660012G>T , CM000674.1:g.14660012G>T GRCh37
NC_000012.10:g.14551279G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1227C>A MANE Select ENSP00000240617.5:p.Ile409=
ENST00000240617.9:c.1227C>A ENSP00000240617.5:p.Ile409=
NM_024829.5:c.1227C>A NP_079105.4:p.Ile409=
NM_024829.6:c.1227C>A MANE Select NP_079105.4:p.Ile409=