Canonical Allele Identifier: CA383982313
Gene: PLBD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.14660046C>A (hg19) chr12:g.14507112C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507112C>A , CM000674.2:g.14507112C>A GRCh38
NC_000012.11:g.14660046C>A , CM000674.1:g.14660046C>A GRCh37
NC_000012.10:g.14551313C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1193G>T MANE Select ENSP00000240617.5:p.Trp398Leu
ENST00000240617.9:c.1193G>T ENSP00000240617.5:p.Trp398Leu
NM_024829.5:c.1193G>T NP_079105.4:p.Trp398Leu
NM_024829.6:c.1193G>T MANE Select NP_079105.4:p.Trp398Leu
Search 100 bp 5'
Search 100 bp 3'