Canonical Allele Identifier: CA383982032
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs1364892791
MyVariant Identifiers: chr12:g.14659919G>T (hg19) chr12:g.14506985G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506985G>T , CM000674.2:g.14506985G>T GRCh38
NC_000012.11:g.14659919G>T , CM000674.1:g.14659919G>T GRCh37
NC_000012.10:g.14551186G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1320C>A MANE Select ENSP00000240617.5:p.Asp440Glu
ENST00000240617.9:c.1320C>A ENSP00000240617.5:p.Asp440Glu
NM_024829.5:c.1320C>A NP_079105.4:p.Asp440Glu
NM_024829.6:c.1320C>A MANE Select NP_079105.4:p.Asp440Glu
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