Canonical Allele Identifier: CA383982180
Gene: PLBD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507056G>T , CM000674.2:g.14507056G>T GRCh38
NC_000012.11:g.14659990G>T , CM000674.1:g.14659990G>T GRCh37
NC_000012.10:g.14551257G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1249C>A MANE Select ENSP00000240617.5:p.Leu417Met
ENST00000240617.9:c.1249C>A ENSP00000240617.5:p.Leu417Met
NM_024829.5:c.1249C>A NP_079105.4:p.Leu417Met
NM_024829.6:c.1249C>A MANE Select NP_079105.4:p.Leu417Met