Canonical Allele Identifier: CA383982093
Gene: PLBD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.14659951A>T (hg19) chr12:g.14507017A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507017A>T , CM000674.2:g.14507017A>T GRCh38
NC_000012.11:g.14659951A>T , CM000674.1:g.14659951A>T GRCh37
NC_000012.10:g.14551218A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1288T>A MANE Select ENSP00000240617.5:p.Leu430Ile
ENST00000240617.9:c.1288T>A ENSP00000240617.5:p.Leu430Ile
NM_024829.5:c.1288T>A NP_079105.4:p.Leu430Ile
NM_024829.6:c.1288T>A MANE Select NP_079105.4:p.Leu430Ile
Search 100 bp 5'
Search 100 bp 3'