Canonical Allele Identifier: CA383982215
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs1419270468
MyVariant Identifiers: chr12:g.14660006G>C (hg19) chr12:g.14507072G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507072G>C , CM000674.2:g.14507072G>C GRCh38
NC_000012.11:g.14660006G>C , CM000674.1:g.14660006G>C GRCh37
NC_000012.10:g.14551273G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1233C>G MANE Select ENSP00000240617.5:p.Asn411Lys
ENST00000240617.9:c.1233C>G ENSP00000240617.5:p.Asn411Lys
NM_024829.5:c.1233C>G NP_079105.4:p.Asn411Lys
NM_024829.6:c.1233C>G MANE Select NP_079105.4:p.Asn411Lys
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