{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA4926336", "communityStandardTitle": [ "NM_201384.3(PLEC):c.5527G>A (p.Gly1843Ser)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=562448[alleleid]", "alleleId": 562448, "preferredName": "NM_201384.3(PLEC):c.5527G>A (p.Gly1843Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/567373", "RCV": [ "RCV000687438", "RCV003243250" ], "variationId": 567373 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/8-144998570-C-T", "id": "8-144998570-C-T", "variant": "8:144998570 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.144998570C>T?assembly=hg19", "id": "chr8:g.144998570C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.143924402C>T?assembly=hg38", "id": "chr8:g.143924402C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/781804005", "rs": 781804005 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-144998570-C-T?dataset=gnomad_r2_1", "id": "8-144998570-C-T", "variant": "8:144998570 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-143924402-C-T?dataset=gnomad_r3", "id": "8-143924402-C-T", "variant": "8:143924402 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-143924402-C-T?dataset=gnomad_r4", "id": "8-143924402-C-T", "variant": "8:143924402 C / T" } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 143924402, "referenceAllele": "C", "start": 143924401 } ], "hgvs": [ "NC_000008.11:g.143924402C>T", "CM000670.2:g.143924402C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 144998570, "referenceAllele": "C", "start": 144998569 } ], "hgvs": [ "NC_000008.10:g.144998570C>T", "CM000670.1:g.144998570C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 145070558, "referenceAllele": "C", "start": 145070557 } ], "hgvs": [ "NC_000008.9:g.145070558C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "A", "end": 57344, "referenceAllele": "G", "start": 57343 } ], "hgvs": [ "NG_012492.1:g.57344G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002420" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 5665, "referenceAllele": "G", "start": 5664 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000528025.6:c.5659G>A" ], "proteinEffect": { "hgvs": "ENSP00000437303.2:p.Gly1887Ser", "hgvsWellDefined": "ENSP00000437303.2:p.Gly1887Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS825747" }, { "coordinates": [ { "allele": "A", "end": 5620, "referenceAllele": "G", "start": 5619 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000685198.1:c.5578G>A" ], "proteinEffect": { "hgvs": "ENSP00000510528.1:p.Gly1860Ser", "hgvsWellDefined": "ENSP00000510528.1:p.Gly1860Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS829937" }, { "coordinates": [ { "allele": "A", "end": 5578, "referenceAllele": "G", "start": 5577 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000687971.1:c.5245G>A" ], "proteinEffect": { "hgvs": "ENSP00000510788.1:p.Gly1749Ser", "hgvsWellDefined": "ENSP00000510788.1:p.Gly1749Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS831361" }, { "coordinates": [ { "allele": "A", "end": 5471, "referenceAllele": "G", "start": 5470 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000693060.1:c.5458G>A" ], "proteinEffect": { "hgvs": "ENSP00000510329.1:p.Gly1820Ser", "hgvsWellDefined": "ENSP00000510329.1:p.Gly1820Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS834042" }, { "coordinates": [ { "allele": "A", "end": 5663, "referenceAllele": "G", "start": 5662 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000345136.8:c.5527G>A" ], "proteinEffect": { "hgvs": "ENSP00000344848.3:p.Gly1843Ser", "hgvsWellDefined": "ENSP00000344848.3:p.Gly1843Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS748278", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000345136.8:c.5527G>A" }, "RefSeq": { "hgvs": "NM_201384.3:c.5527G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344848.3:p.Gly1843Ser" }, "RefSeq": { "hgvs": "NP_958786.1:p.Gly1843Ser" } } } }, { "coordinates": [ { "allele": "A", "end": 4163, "endIntronDirection": "-", "endIntronOffset": 2006, "referenceAllele": "G", "start": 4163, "startIntronDirection": "-", "startIntronOffset": 2007 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000527303.2:c.4126-2007G>A" ], "proteinEffect": { "hgvs": "ENSP00000433982.2:n.4126-2007G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS759013" }, { "coordinates": [ { "allele": "A", "end": 6108, "referenceAllele": "G", "start": 6107 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000322810.8:c.5938G>A" ], "proteinEffect": { "hgvs": "ENSP00000323856.4:p.Gly1980Ser", "hgvsWellDefined": "ENSP00000323856.4:p.Gly1980Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS258128" }, { "coordinates": [ { "allele": "A", "end": 5656, "referenceAllele": "G", "start": 5655 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000345136.7:c.5527G>A" ], "proteinEffect": { "hgvs": "ENSP00000344848.3:p.Gly1843Ser", "hgvsWellDefined": "ENSP00000344848.3:p.Gly1843Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS262142" }, { "coordinates": [ { "allele": "A", "end": 5595, "referenceAllele": "G", "start": 5594 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000354589.7:c.5527G>A" ], "proteinEffect": { "hgvs": "ENSP00000346602.3:p.Gly1843Ser", "hgvsWellDefined": "ENSP00000346602.3:p.Gly1843Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS263177" }, { "coordinates": [ { "allele": "A", "end": 5610, "referenceAllele": "G", "start": 5609 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000354958.6:c.5461G>A" ], "proteinEffect": { "hgvs": "ENSP00000347044.2:p.Gly1821Ser", "hgvsWellDefined": "ENSP00000347044.2:p.Gly1821Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS263292" }, { "coordinates": [ { "allele": "A", "end": 5542, "referenceAllele": "G", "start": 5541 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000356346.7:c.5485G>A" ], "proteinEffect": { "hgvs": "ENSP00000348702.3:p.Gly1829Ser", "hgvsWellDefined": "ENSP00000348702.3:p.Gly1829Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS263729", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356346.7:c.5485G>A" }, "RefSeq": { "hgvs": "NM_201378.4:c.5485G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348702.3:p.Gly1829Ser" }, "RefSeq": { "hgvs": "NP_958780.1:p.Gly1829Ser" } } } }, { "coordinates": [ { "allele": "A", "end": 5548, "referenceAllele": "G", "start": 5547 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000357649.6:c.5539G>A" ], "proteinEffect": { "hgvs": "ENSP00000350277.2:p.Gly1847Ser", "hgvsWellDefined": "ENSP00000350277.2:p.Gly1847Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS264188" }, { "coordinates": [ { "allele": "A", "end": 5505, "referenceAllele": "G", "start": 5504 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000398774.6:c.5431G>A" ], "proteinEffect": { "hgvs": "ENSP00000381756.2:p.Gly1811Ser", "hgvsWellDefined": "ENSP00000381756.2:p.Gly1811Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS278413" }, { "coordinates": [ { "allele": "A", "end": 5646, "referenceAllele": "G", "start": 5645 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000436759.6:c.5608G>A" ], "proteinEffect": { "hgvs": "ENSP00000388180.2:p.Gly1870Ser", "hgvsWellDefined": "ENSP00000388180.2:p.Gly1870Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS294136" }, { "coordinates": [ { "allele": "A", "end": 5596, "referenceAllele": "G", "start": 5595 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000527096.5:c.5596G>A" ], "proteinEffect": { "hgvs": "ENSP00000434583.1:p.Gly1866Ser", "hgvsWellDefined": "ENSP00000434583.1:p.Gly1866Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS352857" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "-", "endIntronOffset": 2006, "referenceAllele": "G", "start": 134, "startIntronDirection": "-", "startIntronOffset": 2007 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000527303.1:c.135-2007G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS353033" }, { "@id": "http://reg.genome.network/allele/PA2825174091", "coordinates": [ { "allele": "A", "end": 5657, "referenceAllele": "G", "start": 5656 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_000445.4:c.5608G>A" ], "proteinEffect": { "hgvs": "NP_000436.2:p.Gly1870Ser", "hgvsWellDefined": "NP_000436.2:p.Gly1870Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS006507" }, { "@id": "http://reg.genome.network/allele/PA2830477628", "coordinates": [ { "allele": "A", "end": 5542, "referenceAllele": "G", "start": 5541 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201378.3:c.5485G>A" ], "proteinEffect": { "hgvs": "NP_958780.1:p.Gly1829Ser", "hgvsWellDefined": "NP_958780.1:p.Gly1829Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS044996" }, { "@id": "http://reg.genome.network/allele/PA2830484701", "coordinates": [ { "allele": "A", "end": 5610, "referenceAllele": "G", "start": 5609 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201379.2:c.5461G>A" ], "proteinEffect": { "hgvs": "NP_958781.1:p.Gly1821Ser", "hgvsWellDefined": "NP_958781.1:p.Gly1821Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS044997" }, { "@id": "http://reg.genome.network/allele/PA891862352", "coordinates": [ { "allele": "A", "end": 6108, "referenceAllele": "G", "start": 6107 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201380.3:c.5938G>A" ], "proteinEffect": { "hgvs": "NP_958782.1:p.Gly1980Ser", "hgvsWellDefined": "NP_958782.1:p.Gly1980Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS044998" }, { "@id": "http://reg.genome.network/allele/PA2830491561", "coordinates": [ { "allele": "A", "end": 5505, "referenceAllele": "G", "start": 5504 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201381.2:c.5431G>A" ], "proteinEffect": { "hgvs": "NP_958783.1:p.Gly1811Ser", "hgvsWellDefined": "NP_958783.1:p.Gly1811Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS044999" }, { "@id": "http://reg.genome.network/allele/PA2830496197", "coordinates": [ { "allele": "A", "end": 5595, "referenceAllele": "G", "start": 5594 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201382.3:c.5527G>A" ], "proteinEffect": { "hgvs": "NP_958784.1:p.Gly1843Ser", "hgvsWellDefined": "NP_958784.1:p.Gly1843Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS045000" }, { "@id": "http://reg.genome.network/allele/PA2830500808", "coordinates": [ { "allele": "A", "end": 5548, "referenceAllele": "G", "start": 5547 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201383.2:c.5539G>A" ], "proteinEffect": { "hgvs": "NP_958785.1:p.Gly1847Ser", "hgvsWellDefined": "NP_958785.1:p.Gly1847Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS045001" }, { "@id": "http://reg.genome.network/allele/PA2830505443", "coordinates": [ { "allele": "A", "end": 5656, "referenceAllele": "G", "start": 5655 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201384.2:c.5527G>A" ], "proteinEffect": { "hgvs": "NP_958786.1:p.Gly1843Ser", "hgvsWellDefined": "NP_958786.1:p.Gly1843Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS045002" }, { "coordinates": [ { "allele": "A", "end": 6056, "referenceAllele": "G", "start": 6055 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250976.2:c.5953G>A" ], "proteinEffect": { "hgvs": "XP_005251033.1:p.Gly1985Ser", "hgvsWellDefined": "XP_005251033.1:p.Gly1985Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS059371" }, { "coordinates": [ { "allele": "A", "end": 5656, "referenceAllele": "G", "start": 5655 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250978.2:c.5554G>A" ], "proteinEffect": { "hgvs": "XP_005251035.1:p.Gly1852Ser", "hgvsWellDefined": "XP_005251035.1:p.Gly1852Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS059372" }, { "coordinates": [ { "allele": "A", "end": 5599, "referenceAllele": "G", "start": 5598 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250979.3:c.5542G>A" ], "proteinEffect": { "hgvs": "XP_005251036.1:p.Gly1848Ser", "hgvsWellDefined": "XP_005251036.1:p.Gly1848Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS059373" }, { "coordinates": [ { "allele": "A", "end": 5689, "referenceAllele": "G", "start": 5688 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250980.3:c.5542G>A" ], "proteinEffect": { "hgvs": "XP_005251037.1:p.Gly1848Ser", "hgvsWellDefined": "XP_005251037.1:p.Gly1848Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS059374" }, { "coordinates": [ { "allele": "A", "end": 5542, "referenceAllele": "G", "start": 5541 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250981.2:c.5500G>A" ], "proteinEffect": { "hgvs": "XP_005251038.1:p.Gly1834Ser", "hgvsWellDefined": "XP_005251038.1:p.Gly1834Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS059375" }, { "coordinates": [ { "allele": "A", "end": 5541, "referenceAllele": "G", "start": 5540 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250982.2:c.5476G>A" ], "proteinEffect": { "hgvs": "XP_005251039.1:p.Gly1826Ser", "hgvsWellDefined": "XP_005251039.1:p.Gly1826Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS059376" }, { "coordinates": [ { "allele": "A", "end": 5473, "referenceAllele": "G", "start": 5472 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250983.2:c.5458G>A" ], "proteinEffect": { "hgvs": "XP_005251040.1:p.Gly1820Ser", "hgvsWellDefined": "XP_005251040.1:p.Gly1820Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS059377" }, { "coordinates": [ { "allele": "A", "end": 5532, "referenceAllele": "G", "start": 5531 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250984.3:c.5446G>A" ], "proteinEffect": { "hgvs": "XP_005251041.1:p.Gly1816Ser", "hgvsWellDefined": "XP_005251041.1:p.Gly1816Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS059378" }, { "coordinates": [ { "allele": "A", "end": 5719, "referenceAllele": "G", "start": 5718 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716588.2:c.5623G>A" ], "proteinEffect": { "hgvs": "XP_006716651.1:p.Gly1875Ser", "hgvsWellDefined": "XP_006716651.1:p.Gly1875Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS071749" }, { "coordinates": [ { "allele": "A", "end": 5488, "referenceAllele": "G", "start": 5487 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716589.2:c.5473G>A" ], "proteinEffect": { "hgvs": "XP_006716652.1:p.Gly1825Ser", "hgvsWellDefined": "XP_006716652.1:p.Gly1825Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS071750" }, { "coordinates": [ { "allele": "A", "end": 5488, "referenceAllele": "G", "start": 5487 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716590.2:c.5473G>A" ], "proteinEffect": { "hgvs": "XP_006716653.1:p.Gly1825Ser", "hgvsWellDefined": "XP_006716653.1:p.Gly1825Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS071751" }, { "coordinates": [ { "allele": "A", "end": 5644, "referenceAllele": "G", "start": 5643 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517130.1:c.5542G>A" ], "proteinEffect": { "hgvs": "XP_011515432.1:p.Gly1848Ser", "hgvsWellDefined": "XP_011515432.1:p.Gly1848Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS084329" }, { "coordinates": [ { "allele": "A", "end": 5473, "referenceAllele": "G", "start": 5472 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517131.1:c.5458G>A" ], "proteinEffect": { "hgvs": "XP_011515433.1:p.Gly1820Ser", "hgvsWellDefined": "XP_011515433.1:p.Gly1820Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS084330" }, { "coordinates": [ { "allele": "A", "end": 4166, "endIntronDirection": "-", "endIntronOffset": 2006, "referenceAllele": "G", "start": 4166, "startIntronDirection": "-", "startIntronOffset": 2007 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517132.1:c.4072-2007G>A" ], "proteinEffect": { "hgvs": "XP_011515434.1:n.4072-2007G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS084331" }, { "coordinates": [ { "allele": "A", "end": 6149, "referenceAllele": "G", "start": 6148 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250976.4:c.5953G>A" ], "proteinEffect": { "hgvs": "XP_005251033.1:p.Gly1985Ser", "hgvsWellDefined": "XP_005251033.1:p.Gly1985Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS533529" }, { "coordinates": [ { "allele": "A", "end": 5675, "referenceAllele": "G", "start": 5674 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250978.3:c.5554G>A" ], "proteinEffect": { "hgvs": "XP_005251035.1:p.Gly1852Ser", "hgvsWellDefined": "XP_005251035.1:p.Gly1852Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS533530" }, { "coordinates": [ { "allele": "A", "end": 5634, "referenceAllele": "G", "start": 5633 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250979.4:c.5542G>A" ], "proteinEffect": { "hgvs": "XP_005251036.1:p.Gly1848Ser", "hgvsWellDefined": "XP_005251036.1:p.Gly1848Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS533531" }, { "coordinates": [ { "allele": "A", "end": 5719, "referenceAllele": "G", "start": 5718 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250980.4:c.5542G>A" ], "proteinEffect": { "hgvs": "XP_005251037.1:p.Gly1848Ser", "hgvsWellDefined": "XP_005251037.1:p.Gly1848Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS533532" }, { "coordinates": [ { "allele": "A", "end": 5556, "referenceAllele": "G", "start": 5555 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250981.3:c.5500G>A" ], "proteinEffect": { "hgvs": "XP_005251038.1:p.Gly1834Ser", "hgvsWellDefined": "XP_005251038.1:p.Gly1834Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS533533" }, { "coordinates": [ { "allele": "A", "end": 5545, "referenceAllele": "G", "start": 5544 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250982.4:c.5476G>A" ], "proteinEffect": { "hgvs": "XP_005251039.1:p.Gly1826Ser", "hgvsWellDefined": "XP_005251039.1:p.Gly1826Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS533534" }, { "coordinates": [ { "allele": "A", "end": 6953, "referenceAllele": "G", "start": 6952 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250984.5:c.5446G>A" ], "proteinEffect": { "hgvs": "XP_005251041.1:p.Gly1816Ser", "hgvsWellDefined": "XP_005251041.1:p.Gly1816Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS533535" }, { "coordinates": [ { "allele": "A", "end": 5727, "referenceAllele": "G", "start": 5726 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716588.3:c.5623G>A" ], "proteinEffect": { "hgvs": "XP_006716651.1:p.Gly1875Ser", "hgvsWellDefined": "XP_006716651.1:p.Gly1875Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS539204" }, { "coordinates": [ { "allele": "A", "end": 5598, "referenceAllele": "G", "start": 5597 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716590.3:c.5473G>A" ], "proteinEffect": { "hgvs": "XP_006716653.1:p.Gly1825Ser", "hgvsWellDefined": "XP_006716653.1:p.Gly1825Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS539205" }, { "coordinates": [ { "allele": "A", "end": 5663, "referenceAllele": "G", "start": 5662 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517130.2:c.5542G>A" ], "proteinEffect": { "hgvs": "XP_011515432.1:p.Gly1848Ser", "hgvsWellDefined": "XP_011515432.1:p.Gly1848Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS544424" }, { "coordinates": [ { "allele": "A", "end": 5582, "referenceAllele": "G", "start": 5581 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517131.2:c.5458G>A" ], "proteinEffect": { "hgvs": "XP_011515433.1:p.Gly1820Ser", "hgvsWellDefined": "XP_011515433.1:p.Gly1820Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS544425" }, { "coordinates": [ { "allele": "A", "end": 4188, "endIntronDirection": "-", "endIntronOffset": 2006, "referenceAllele": "G", "start": 4188, "startIntronDirection": "-", "startIntronOffset": 2007 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517132.2:c.4072-2007G>A" ], "proteinEffect": { "hgvs": "XP_011515434.1:n.4072-2007G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS544426" }, { "@id": "http://reg.genome.network/allele/PA2825174091", "coordinates": [ { "allele": "A", "end": 5657, "referenceAllele": "G", "start": 5656 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_000445.5:c.5608G>A" ], "proteinEffect": { "hgvs": "NP_000436.2:p.Gly1870Ser", "hgvsWellDefined": "NP_000436.2:p.Gly1870Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS674849" }, { "@id": "http://reg.genome.network/allele/PA2830477628", "coordinates": [ { "allele": "A", "end": 5542, "referenceAllele": "G", "start": 5541 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201378.4:c.5485G>A" ], "proteinEffect": { "hgvs": "NP_958780.1:p.Gly1829Ser", "hgvsWellDefined": "NP_958780.1:p.Gly1829Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS701531", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356346.7:c.5485G>A" }, "RefSeq": { "hgvs": "NM_201378.4:c.5485G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348702.3:p.Gly1829Ser" }, "RefSeq": { "hgvs": "NP_958780.1:p.Gly1829Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA2830484701", "coordinates": [ { "allele": "A", "end": 5524, "referenceAllele": "G", "start": 5523 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201379.3:c.5461G>A" ], "proteinEffect": { "hgvs": "NP_958781.1:p.Gly1821Ser", "hgvsWellDefined": "NP_958781.1:p.Gly1821Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS701532" }, { "@id": "http://reg.genome.network/allele/PA891862352", "coordinates": [ { "allele": "A", "end": 6158, "referenceAllele": "G", "start": 6157 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201380.4:c.5938G>A" ], "proteinEffect": { "hgvs": "NP_958782.1:p.Gly1980Ser", "hgvsWellDefined": "NP_958782.1:p.Gly1980Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS701533" }, { "@id": "http://reg.genome.network/allele/PA2830491561", "coordinates": [ { "allele": "A", "end": 5538, "referenceAllele": "G", "start": 5537 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201381.3:c.5431G>A" ], "proteinEffect": { "hgvs": "NP_958783.1:p.Gly1811Ser", "hgvsWellDefined": "NP_958783.1:p.Gly1811Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS701534" }, { "@id": "http://reg.genome.network/allele/PA2830496197", "coordinates": [ { "allele": "A", "end": 5622, "referenceAllele": "G", "start": 5621 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201382.4:c.5527G>A" ], "proteinEffect": { "hgvs": "NP_958784.1:p.Gly1843Ser", "hgvsWellDefined": "NP_958784.1:p.Gly1843Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS701535" }, { "@id": "http://reg.genome.network/allele/PA2830500808", "coordinates": [ { "allele": "A", "end": 5648, "referenceAllele": "G", "start": 5647 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201383.3:c.5539G>A" ], "proteinEffect": { "hgvs": "NP_958785.1:p.Gly1847Ser", "hgvsWellDefined": "NP_958785.1:p.Gly1847Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS701536" }, { "@id": "http://reg.genome.network/allele/PA2830505443", "coordinates": [ { "allele": "A", "end": 5663, "referenceAllele": "G", "start": 5662 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201384.3:c.5527G>A" ], "proteinEffect": { "hgvs": "NP_958786.1:p.Gly1843Ser", "hgvsWellDefined": "NP_958786.1:p.Gly1843Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS701537", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000345136.8:c.5527G>A" }, "RefSeq": { "hgvs": "NM_201384.3:c.5527G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344848.3:p.Gly1843Ser" }, "RefSeq": { "hgvs": "NP_958786.1:p.Gly1843Ser" } } } } ], "type": "nucleotide" }