Canonical Allele Identifier: CA233190514
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs1040618608
gnomAD v4: 12-14507079-A-G
MyVariant Identifiers: chr12:g.14660013A>G (hg19) chr12:g.14507079A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507079A>G , CM000674.2:g.14507079A>G GRCh38
NC_000012.11:g.14660013A>G , CM000674.1:g.14660013A>G GRCh37
NC_000012.10:g.14551280A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1226T>C MANE Select ENSP00000240617.5:p.Ile409Thr
ENST00000240617.9:c.1226T>C ENSP00000240617.5:p.Ile409Thr
NM_024829.5:c.1226T>C NP_079105.4:p.Ile409Thr
NM_024829.6:c.1226T>C MANE Select NP_079105.4:p.Ile409Thr
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