Canonical Allele Identifier: CA383982145
Gene: PLBD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507040A>T , CM000674.2:g.14507040A>T GRCh38
NC_000012.11:g.14659974A>T , CM000674.1:g.14659974A>T GRCh37
NC_000012.10:g.14551241A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1265T>A MANE Select ENSP00000240617.5:p.Leu422Gln
ENST00000240617.9:c.1265T>A ENSP00000240617.5:p.Leu422Gln
NM_024829.5:c.1265T>A NP_079105.4:p.Leu422Gln
NM_024829.6:c.1265T>A MANE Select NP_079105.4:p.Leu422Gln