Canonical Allele Identifier: CA10604945
Gene: PLOD1 HGNC NCBI
gnomAD v3:
1:11950377 CG / C
gnomAD v4:
chr1-11950377-CG-C
Joint Max Group AF 0.00000183 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000276190
RCV000819031
ClinVar Variation:
284903
dbSNP:
886042976
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11950381del , CM000663.2:g.11950381del GRCh38
NC_000001.10:g.12010438del , CM000663.1:g.12010438del GRCh37
NC_000001.9:g.11933025del NCBI36
NG_008159.1:g.20693del

Transcript Alleles

HGVS Amino-acid Change
ENST00000196061.5:c.327del MANE Select ENSP00000196061.4:p.Arg111GlyfsTer4
ENST00000196061.4:c.327del ENSP00000196061.4:p.Arg111GlyfsTer4
ENST00000358133.5:n.373del
ENST00000429000.6:c.327del ENSP00000405372.1:p.Arg111GlyfsTer4
ENST00000449038.5:c.468del ENSP00000414443.1:p.Arg158GlyfsTer4
ENST00000485046.5:n.370del
NM_000302.3:c.327del NP_000293.2:p.Arg111GlyfsTer4
NM_001316320.1:c.468del NP_001303249.1:p.Arg158GlyfsTer4
XM_011541594.1:c.408del XP_011539896.1:p.Arg138GlyfsTer4
XM_024447707.1:c.-340del XP_024303475.1:n.-340del
NM_000302.4:c.327del MANE Select NP_000293.2:p.Arg111GlyfsTer4
NM_001316320.2:c.468del NP_001303249.1:p.Arg158GlyfsTer4
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