Canonical Allele Identifier: CA6462505
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs781201395
ExAC: 12:14659945 G / T
gnomAD v2: 12-14659945-G-T
gnomAD v3: 12-14507011-G-T
gnomAD v4: 12-14507011-G-T
MyVariant Identifiers: chr12:g.14659945G>T (hg19) chr12:g.14507011G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507011G>T , CM000674.2:g.14507011G>T GRCh38
NC_000012.11:g.14659945G>T , CM000674.1:g.14659945G>T GRCh37
NC_000012.10:g.14551212G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1294C>A MANE Select ENSP00000240617.5:p.Pro432Thr
ENST00000240617.9:c.1294C>A ENSP00000240617.5:p.Pro432Thr
NM_024829.5:c.1294C>A NP_079105.4:p.Pro432Thr
NM_024829.6:c.1294C>A MANE Select NP_079105.4:p.Pro432Thr
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