{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA372530427", "communityStandardTitle": [ "NM_201384.3(PLEC):c.7031G>A (p.Arg2344Gln)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=655845[alleleid]", "alleleId": 655845, "preferredName": "NM_201384.3(PLEC):c.7031G>A (p.Arg2344Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/668587", "RCV": [ "RCV000827507", "RCV001213259" ], "variationId": 668587 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.144997066C>T?assembly=hg19", "id": "chr8:g.144997066C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.143922898C>T?assembly=hg38", "id": "chr8:g.143922898C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/782566489", "rs": 782566489 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-144997066-C-T?dataset=gnomad_r2_1", "id": "8-144997066-C-T", "variant": "8:144997066 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-143922898-C-T?dataset=gnomad_r3", "id": "8-143922898-C-T", "variant": "8:143922898 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-143922898-C-T?dataset=gnomad_r4", "id": "8-143922898-C-T", "variant": "8:143922898 C / T" } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 143922898, "referenceAllele": "C", "start": 143922897 } ], "hgvs": [ "NC_000008.11:g.143922898C>T", "CM000670.2:g.143922898C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 144997066, "referenceAllele": "C", "start": 144997065 } ], "hgvs": [ "NC_000008.10:g.144997066C>T", "CM000670.1:g.144997066C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 145069054, "referenceAllele": "C", "start": 145069053 } ], "hgvs": [ "NC_000008.9:g.145069054C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "A", "end": 58848, "referenceAllele": "G", "start": 58847 } ], "hgvs": [ "NG_012492.1:g.58848G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002420" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 7169, "referenceAllele": "G", "start": 7168 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000528025.6:c.7163G>A" ], "proteinEffect": { "hgvs": "ENSP00000437303.2:p.Arg2388Gln", "hgvsWellDefined": "ENSP00000437303.2:p.Arg2388Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS825747" }, { "coordinates": [ { "allele": "A", "end": 7124, "referenceAllele": "G", "start": 7123 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000685198.1:c.7082G>A" ], "proteinEffect": { "hgvs": "ENSP00000510528.1:p.Arg2361Gln", "hgvsWellDefined": "ENSP00000510528.1:p.Arg2361Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS829937" }, { "coordinates": [ { "allele": "A", "end": 7082, "referenceAllele": "G", "start": 7081 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000687971.1:c.6749G>A" ], "proteinEffect": { "hgvs": "ENSP00000510788.1:p.Arg2250Gln", "hgvsWellDefined": "ENSP00000510788.1:p.Arg2250Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS831361" }, { "coordinates": [ { "allele": "A", "end": 6975, "referenceAllele": "G", "start": 6974 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000693060.1:c.6962G>A" ], "proteinEffect": { "hgvs": "ENSP00000510329.1:p.Arg2321Gln", "hgvsWellDefined": "ENSP00000510329.1:p.Arg2321Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS834042" }, { "coordinates": [ { "allele": "A", "end": 7167, "referenceAllele": "G", "start": 7166 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000345136.8:c.7031G>A" ], "proteinEffect": { "hgvs": "ENSP00000344848.3:p.Arg2344Gln", "hgvsWellDefined": "ENSP00000344848.3:p.Arg2344Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS748278", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000345136.8:c.7031G>A" }, "RefSeq": { "hgvs": "NM_201384.3:c.7031G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344848.3:p.Arg2344Gln" }, "RefSeq": { "hgvs": "NP_958786.1:p.Arg2344Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 4163, "endIntronDirection": "-", "endIntronOffset": 502, "referenceAllele": "G", "start": 4163, "startIntronDirection": "-", "startIntronOffset": 503 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000527303.2:c.4126-503G>A" ], "proteinEffect": { "hgvs": "ENSP00000433982.2:n.4126-503G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS759013" }, { "coordinates": [ { "allele": "A", "end": 7612, "referenceAllele": "G", "start": 7611 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000322810.8:c.7442G>A" ], "proteinEffect": { "hgvs": "ENSP00000323856.4:p.Arg2481Gln", "hgvsWellDefined": "ENSP00000323856.4:p.Arg2481Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS258128" }, { "coordinates": [ { "allele": "A", "end": 7160, "referenceAllele": "G", "start": 7159 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000345136.7:c.7031G>A" ], "proteinEffect": { "hgvs": "ENSP00000344848.3:p.Arg2344Gln", "hgvsWellDefined": "ENSP00000344848.3:p.Arg2344Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS262142" }, { "coordinates": [ { "allele": "A", "end": 7099, "referenceAllele": "G", "start": 7098 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000354589.7:c.7031G>A" ], "proteinEffect": { "hgvs": "ENSP00000346602.3:p.Arg2344Gln", "hgvsWellDefined": "ENSP00000346602.3:p.Arg2344Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS263177" }, { "coordinates": [ { "allele": "A", "end": 7114, "referenceAllele": "G", "start": 7113 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000354958.6:c.6965G>A" ], "proteinEffect": { "hgvs": "ENSP00000347044.2:p.Arg2322Gln", "hgvsWellDefined": "ENSP00000347044.2:p.Arg2322Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS263292" }, { "coordinates": [ { "allele": "A", "end": 7046, "referenceAllele": "G", "start": 7045 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000356346.7:c.6989G>A" ], "proteinEffect": { "hgvs": "ENSP00000348702.3:p.Arg2330Gln", "hgvsWellDefined": "ENSP00000348702.3:p.Arg2330Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS263729", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356346.7:c.6989G>A" }, "RefSeq": { "hgvs": "NM_201378.4:c.6989G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348702.3:p.Arg2330Gln" }, "RefSeq": { "hgvs": "NP_958780.1:p.Arg2330Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 7052, "referenceAllele": "G", "start": 7051 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000357649.6:c.7043G>A" ], "proteinEffect": { "hgvs": "ENSP00000350277.2:p.Arg2348Gln", "hgvsWellDefined": "ENSP00000350277.2:p.Arg2348Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS264188" }, { "coordinates": [ { "allele": "A", "end": 7009, "referenceAllele": "G", "start": 7008 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000398774.6:c.6935G>A" ], "proteinEffect": { "hgvs": "ENSP00000381756.2:p.Arg2312Gln", "hgvsWellDefined": "ENSP00000381756.2:p.Arg2312Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS278413" }, { "coordinates": [ { "allele": "A", "end": 7150, "referenceAllele": "G", "start": 7149 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000436759.6:c.7112G>A" ], "proteinEffect": { "hgvs": "ENSP00000388180.2:p.Arg2371Gln", "hgvsWellDefined": "ENSP00000388180.2:p.Arg2371Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS294136" }, { "coordinates": [ { "allele": "A", "end": 7100, "referenceAllele": "G", "start": 7099 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000527096.5:c.7100G>A" ], "proteinEffect": { "hgvs": "ENSP00000434583.1:p.Arg2367Gln", "hgvsWellDefined": "ENSP00000434583.1:p.Arg2367Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS352857" }, { "coordinates": [ { "allele": "A", "end": 134, "endIntronDirection": "-", "endIntronOffset": 502, "referenceAllele": "G", "start": 134, "startIntronDirection": "-", "startIntronOffset": 503 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000527303.1:c.135-503G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS353033" }, { "@id": "http://reg.genome.network/allele/PA2825174731", "coordinates": [ { "allele": "A", "end": 7161, "referenceAllele": "G", "start": 7160 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_000445.4:c.7112G>A" ], "proteinEffect": { "hgvs": "NP_000436.2:p.Arg2371Gln", "hgvsWellDefined": "NP_000436.2:p.Arg2371Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS006507" }, { "@id": "http://reg.genome.network/allele/PA2830478928", "coordinates": [ { "allele": "A", "end": 7046, "referenceAllele": "G", "start": 7045 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201378.3:c.6989G>A" ], "proteinEffect": { "hgvs": "NP_958780.1:p.Arg2330Gln", "hgvsWellDefined": "NP_958780.1:p.Arg2330Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS044996" }, { "@id": "http://reg.genome.network/allele/PA2830485668", "coordinates": [ { "allele": "A", "end": 7114, "referenceAllele": "G", "start": 7113 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201379.2:c.6965G>A" ], "proteinEffect": { "hgvs": "NP_958781.1:p.Arg2322Gln", "hgvsWellDefined": "NP_958781.1:p.Arg2322Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS044997" }, { "@id": "http://reg.genome.network/allele/PA916066682", "coordinates": [ { "allele": "A", "end": 7612, "referenceAllele": "G", "start": 7611 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201380.3:c.7442G>A" ], "proteinEffect": { "hgvs": "NP_958782.1:p.Arg2481Gln", "hgvsWellDefined": "NP_958782.1:p.Arg2481Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS044998" }, { "@id": "http://reg.genome.network/allele/PA2830492200", "coordinates": [ { "allele": "A", "end": 7009, "referenceAllele": "G", "start": 7008 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201381.2:c.6935G>A" ], "proteinEffect": { "hgvs": "NP_958783.1:p.Arg2312Gln", "hgvsWellDefined": "NP_958783.1:p.Arg2312Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS044999" }, { "@id": "http://reg.genome.network/allele/PA2830496836", "coordinates": [ { "allele": "A", "end": 7099, "referenceAllele": "G", "start": 7098 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201382.3:c.7031G>A" ], "proteinEffect": { "hgvs": "NP_958784.1:p.Arg2344Gln", "hgvsWellDefined": "NP_958784.1:p.Arg2344Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS045000" }, { "@id": "http://reg.genome.network/allele/PA2830501448", "coordinates": [ { "allele": "A", "end": 7052, "referenceAllele": "G", "start": 7051 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201383.2:c.7043G>A" ], "proteinEffect": { "hgvs": "NP_958785.1:p.Arg2348Gln", "hgvsWellDefined": "NP_958785.1:p.Arg2348Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS045001" }, { "@id": "http://reg.genome.network/allele/PA2830506082", "coordinates": [ { "allele": "A", "end": 7160, "referenceAllele": "G", "start": 7159 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201384.2:c.7031G>A" ], "proteinEffect": { "hgvs": "NP_958786.1:p.Arg2344Gln", "hgvsWellDefined": "NP_958786.1:p.Arg2344Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS045002" }, { "coordinates": [ { "allele": "A", "end": 7560, "referenceAllele": "G", "start": 7559 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250976.2:c.7457G>A" ], "proteinEffect": { "hgvs": "XP_005251033.1:p.Arg2486Gln", "hgvsWellDefined": "XP_005251033.1:p.Arg2486Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS059371" }, { "coordinates": [ { "allele": "A", "end": 7160, "referenceAllele": "G", "start": 7159 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250978.2:c.7058G>A" ], "proteinEffect": { "hgvs": "XP_005251035.1:p.Arg2353Gln", "hgvsWellDefined": "XP_005251035.1:p.Arg2353Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS059372" }, { "coordinates": [ { "allele": "A", "end": 7103, "referenceAllele": "G", "start": 7102 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250979.3:c.7046G>A" ], "proteinEffect": { "hgvs": "XP_005251036.1:p.Arg2349Gln", "hgvsWellDefined": "XP_005251036.1:p.Arg2349Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS059373" }, { "coordinates": [ { "allele": "A", "end": 7193, "referenceAllele": "G", "start": 7192 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250980.3:c.7046G>A" ], "proteinEffect": { "hgvs": "XP_005251037.1:p.Arg2349Gln", "hgvsWellDefined": "XP_005251037.1:p.Arg2349Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS059374" }, { "coordinates": [ { "allele": "A", "end": 7046, "referenceAllele": "G", "start": 7045 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250981.2:c.7004G>A" ], "proteinEffect": { "hgvs": "XP_005251038.1:p.Arg2335Gln", "hgvsWellDefined": "XP_005251038.1:p.Arg2335Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS059375" }, { "coordinates": [ { "allele": "A", "end": 7045, "referenceAllele": "G", "start": 7044 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250982.2:c.6980G>A" ], "proteinEffect": { "hgvs": "XP_005251039.1:p.Arg2327Gln", "hgvsWellDefined": "XP_005251039.1:p.Arg2327Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS059376" }, { "coordinates": [ { "allele": "A", "end": 6977, "referenceAllele": "G", "start": 6976 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250983.2:c.6962G>A" ], "proteinEffect": { "hgvs": "XP_005251040.1:p.Arg2321Gln", "hgvsWellDefined": "XP_005251040.1:p.Arg2321Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS059377" }, { "coordinates": [ { "allele": "A", "end": 7036, "referenceAllele": "G", "start": 7035 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250984.3:c.6950G>A" ], "proteinEffect": { "hgvs": "XP_005251041.1:p.Arg2317Gln", "hgvsWellDefined": "XP_005251041.1:p.Arg2317Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS059378" }, { "coordinates": [ { "allele": "A", "end": 7223, "referenceAllele": "G", "start": 7222 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716588.2:c.7127G>A" ], "proteinEffect": { "hgvs": "XP_006716651.1:p.Arg2376Gln", "hgvsWellDefined": "XP_006716651.1:p.Arg2376Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS071749" }, { "coordinates": [ { "allele": "A", "end": 6992, "referenceAllele": "G", "start": 6991 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716589.2:c.6977G>A" ], "proteinEffect": { "hgvs": "XP_006716652.1:p.Arg2326Gln", "hgvsWellDefined": "XP_006716652.1:p.Arg2326Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS071750" }, { "coordinates": [ { "allele": "A", "end": 6992, "referenceAllele": "G", "start": 6991 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716590.2:c.6977G>A" ], "proteinEffect": { "hgvs": "XP_006716653.1:p.Arg2326Gln", "hgvsWellDefined": "XP_006716653.1:p.Arg2326Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS071751" }, { "coordinates": [ { "allele": "A", "end": 7148, "referenceAllele": "G", "start": 7147 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517130.1:c.7046G>A" ], "proteinEffect": { "hgvs": "XP_011515432.1:p.Arg2349Gln", "hgvsWellDefined": "XP_011515432.1:p.Arg2349Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS084329" }, { "coordinates": [ { "allele": "A", "end": 6977, "referenceAllele": "G", "start": 6976 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517131.1:c.6962G>A" ], "proteinEffect": { "hgvs": "XP_011515433.1:p.Arg2321Gln", "hgvsWellDefined": "XP_011515433.1:p.Arg2321Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS084330" }, { "coordinates": [ { "allele": "A", "end": 4166, "endIntronDirection": "-", "endIntronOffset": 502, "referenceAllele": "G", "start": 4166, "startIntronDirection": "-", "startIntronOffset": 503 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517132.1:c.4072-503G>A" ], "proteinEffect": { "hgvs": "XP_011515434.1:n.4072-503G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS084331" }, { "coordinates": [ { "allele": "A", "end": 7653, "referenceAllele": "G", "start": 7652 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250976.4:c.7457G>A" ], "proteinEffect": { "hgvs": "XP_005251033.1:p.Arg2486Gln", "hgvsWellDefined": "XP_005251033.1:p.Arg2486Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS533529" }, { "coordinates": [ { "allele": "A", "end": 7179, "referenceAllele": "G", "start": 7178 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250978.3:c.7058G>A" ], "proteinEffect": { "hgvs": "XP_005251035.1:p.Arg2353Gln", "hgvsWellDefined": "XP_005251035.1:p.Arg2353Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS533530" }, { "coordinates": [ { "allele": "A", "end": 7138, "referenceAllele": "G", "start": 7137 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250979.4:c.7046G>A" ], "proteinEffect": { "hgvs": "XP_005251036.1:p.Arg2349Gln", "hgvsWellDefined": "XP_005251036.1:p.Arg2349Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS533531" }, { "coordinates": [ { "allele": "A", "end": 7223, "referenceAllele": "G", "start": 7222 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250980.4:c.7046G>A" ], "proteinEffect": { "hgvs": "XP_005251037.1:p.Arg2349Gln", "hgvsWellDefined": "XP_005251037.1:p.Arg2349Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS533532" }, { "coordinates": [ { "allele": "A", "end": 7060, "referenceAllele": "G", "start": 7059 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250981.3:c.7004G>A" ], "proteinEffect": { "hgvs": "XP_005251038.1:p.Arg2335Gln", "hgvsWellDefined": "XP_005251038.1:p.Arg2335Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS533533" }, { "coordinates": [ { "allele": "A", "end": 7049, "referenceAllele": "G", "start": 7048 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250982.4:c.6980G>A" ], "proteinEffect": { "hgvs": "XP_005251039.1:p.Arg2327Gln", "hgvsWellDefined": "XP_005251039.1:p.Arg2327Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS533534" }, { "coordinates": [ { "allele": "A", "end": 8457, "referenceAllele": "G", "start": 8456 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250984.5:c.6950G>A" ], "proteinEffect": { "hgvs": "XP_005251041.1:p.Arg2317Gln", "hgvsWellDefined": "XP_005251041.1:p.Arg2317Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS533535" }, { "coordinates": [ { "allele": "A", "end": 7231, "referenceAllele": "G", "start": 7230 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716588.3:c.7127G>A" ], "proteinEffect": { "hgvs": "XP_006716651.1:p.Arg2376Gln", "hgvsWellDefined": "XP_006716651.1:p.Arg2376Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS539204" }, { "coordinates": [ { "allele": "A", "end": 7102, "referenceAllele": "G", "start": 7101 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716590.3:c.6977G>A" ], "proteinEffect": { "hgvs": "XP_006716653.1:p.Arg2326Gln", "hgvsWellDefined": "XP_006716653.1:p.Arg2326Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS539205" }, { "coordinates": [ { "allele": "A", "end": 7167, "referenceAllele": "G", "start": 7166 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517130.2:c.7046G>A" ], "proteinEffect": { "hgvs": "XP_011515432.1:p.Arg2349Gln", "hgvsWellDefined": "XP_011515432.1:p.Arg2349Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS544424" }, { "coordinates": [ { "allele": "A", "end": 7086, "referenceAllele": "G", "start": 7085 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517131.2:c.6962G>A" ], "proteinEffect": { "hgvs": "XP_011515433.1:p.Arg2321Gln", "hgvsWellDefined": "XP_011515433.1:p.Arg2321Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS544425" }, { "coordinates": [ { "allele": "A", "end": 4188, "endIntronDirection": "-", "endIntronOffset": 502, "referenceAllele": "G", "start": 4188, "startIntronDirection": "-", "startIntronOffset": 503 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517132.2:c.4072-503G>A" ], "proteinEffect": { "hgvs": "XP_011515434.1:n.4072-503G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS544426" }, { "@id": "http://reg.genome.network/allele/PA2825174731", "coordinates": [ { "allele": "A", "end": 7161, "referenceAllele": "G", "start": 7160 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_000445.5:c.7112G>A" ], "proteinEffect": { "hgvs": "NP_000436.2:p.Arg2371Gln", "hgvsWellDefined": "NP_000436.2:p.Arg2371Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS674849" }, { "@id": "http://reg.genome.network/allele/PA2830478928", "coordinates": [ { "allele": "A", "end": 7046, "referenceAllele": "G", "start": 7045 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201378.4:c.6989G>A" ], "proteinEffect": { "hgvs": "NP_958780.1:p.Arg2330Gln", "hgvsWellDefined": "NP_958780.1:p.Arg2330Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS701531", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356346.7:c.6989G>A" }, "RefSeq": { "hgvs": "NM_201378.4:c.6989G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348702.3:p.Arg2330Gln" }, "RefSeq": { "hgvs": "NP_958780.1:p.Arg2330Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA2830485668", "coordinates": [ { "allele": "A", "end": 7028, "referenceAllele": "G", "start": 7027 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201379.3:c.6965G>A" ], "proteinEffect": { "hgvs": "NP_958781.1:p.Arg2322Gln", "hgvsWellDefined": "NP_958781.1:p.Arg2322Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS701532" }, { "@id": "http://reg.genome.network/allele/PA916066682", "coordinates": [ { "allele": "A", "end": 7662, "referenceAllele": "G", "start": 7661 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201380.4:c.7442G>A" ], "proteinEffect": { "hgvs": "NP_958782.1:p.Arg2481Gln", "hgvsWellDefined": "NP_958782.1:p.Arg2481Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS701533" }, { "@id": "http://reg.genome.network/allele/PA2830492200", "coordinates": [ { "allele": "A", "end": 7042, "referenceAllele": "G", "start": 7041 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201381.3:c.6935G>A" ], "proteinEffect": { "hgvs": "NP_958783.1:p.Arg2312Gln", "hgvsWellDefined": "NP_958783.1:p.Arg2312Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS701534" }, { "@id": "http://reg.genome.network/allele/PA2830496836", "coordinates": [ { "allele": "A", "end": 7126, "referenceAllele": "G", "start": 7125 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201382.4:c.7031G>A" ], "proteinEffect": { "hgvs": "NP_958784.1:p.Arg2344Gln", "hgvsWellDefined": "NP_958784.1:p.Arg2344Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS701535" }, { "@id": "http://reg.genome.network/allele/PA2830501448", "coordinates": [ { "allele": "A", "end": 7152, "referenceAllele": "G", "start": 7151 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201383.3:c.7043G>A" ], "proteinEffect": { "hgvs": "NP_958785.1:p.Arg2348Gln", "hgvsWellDefined": "NP_958785.1:p.Arg2348Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS701536" }, { "@id": "http://reg.genome.network/allele/PA2830506082", "coordinates": [ { "allele": "A", "end": 7167, "referenceAllele": "G", "start": 7166 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201384.3:c.7031G>A" ], "proteinEffect": { "hgvs": "NP_958786.1:p.Arg2344Gln", "hgvsWellDefined": "NP_958786.1:p.Arg2344Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS701537", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000345136.8:c.7031G>A" }, "RefSeq": { "hgvs": "NM_201384.3:c.7031G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344848.3:p.Arg2344Gln" }, "RefSeq": { "hgvs": "NP_958786.1:p.Arg2344Gln" } } } } ], "type": "nucleotide" }