{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA4926987", "communityStandardTitle": [ "NM_201384.3(PLEC):c.3683G>A (p.Arg1228Gln)" ], "externalRecords": { "COSMIC": [ { "active": false, "id": "COSM5351829" }, { "active": false, "id": "COSM5351830" }, { "active": false, "id": "COSM5351831" }, { "active": false, "id": "COSM5351832" }, { "active": false, "id": "COSM5351833" }, { "active": false, "id": "COSM5351834" }, { "active": false, "id": "COSM5351835" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=834271[alleleid]", "alleleId": 834271, "preferredName": "NM_201384.3(PLEC):c.3683G>A (p.Arg1228Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/864619", "RCV": [ "RCV001071846", "RCV003132217" ], "variationId": 864619 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/8-145001651-C-T", "id": "8-145001651-C-T", "variant": "8:145001651 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.145001651C>T?assembly=hg19", "id": "chr8:g.145001651C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.143927483C>T?assembly=hg38", "id": "chr8:g.143927483C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/201347953", "rs": 201347953 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-145001651-C-T?dataset=gnomad_r2_1", "id": "8-145001651-C-T", "variant": "8:145001651 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-143927483-C-T?dataset=gnomad_r3", "id": "8-143927483-C-T", "variant": "8:143927483 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/8-143927483-C-T?dataset=gnomad_r4", "id": "8-143927483-C-T", "variant": "8:143927483 C / T" } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 143927483, "referenceAllele": "C", "start": 143927482 } ], "hgvs": [ "NC_000008.11:g.143927483C>T", "CM000670.2:g.143927483C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 145001651, "referenceAllele": "C", "start": 145001650 } ], "hgvs": [ "NC_000008.10:g.145001651C>T", "CM000670.1:g.145001651C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 145073639, "referenceAllele": "C", "start": 145073638 } ], "hgvs": [ "NC_000008.9:g.145073639C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "A", "end": 54263, "referenceAllele": "G", "start": 54262 } ], "hgvs": [ "NG_012492.1:g.54263G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002420" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3821, "referenceAllele": "G", "start": 3820 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000528025.6:c.3815G>A" ], "proteinEffect": { "hgvs": "ENSP00000437303.2:p.Arg1272Gln", "hgvsWellDefined": "ENSP00000437303.2:p.Arg1272Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS825747" }, { "coordinates": [ { "allele": "A", "end": 3776, "referenceAllele": "G", "start": 3775 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000685198.1:c.3734G>A" ], "proteinEffect": { "hgvs": "ENSP00000510528.1:p.Arg1245Gln", "hgvsWellDefined": "ENSP00000510528.1:p.Arg1245Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS829937" }, { "coordinates": [ { "allele": "A", "end": 3734, "referenceAllele": "G", "start": 3733 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000687971.1:c.3401G>A" ], "proteinEffect": { "hgvs": "ENSP00000510788.1:p.Arg1134Gln", "hgvsWellDefined": "ENSP00000510788.1:p.Arg1134Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS831361" }, { "coordinates": [ { "allele": "A", "end": 3627, "referenceAllele": "G", "start": 3626 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000693060.1:c.3614G>A" ], "proteinEffect": { "hgvs": "ENSP00000510329.1:p.Arg1205Gln", "hgvsWellDefined": "ENSP00000510329.1:p.Arg1205Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS834042" }, { "coordinates": [ { "allele": "A", "end": 3819, "referenceAllele": "G", "start": 3818 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000345136.8:c.3683G>A" ], "proteinEffect": { "hgvs": "ENSP00000344848.3:p.Arg1228Gln", "hgvsWellDefined": "ENSP00000344848.3:p.Arg1228Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS748278", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000345136.8:c.3683G>A" }, "RefSeq": { "hgvs": "NM_201384.3:c.3683G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344848.3:p.Arg1228Gln" }, "RefSeq": { "hgvs": "NP_958786.1:p.Arg1228Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 3802, "referenceAllele": "G", "start": 3801 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000527303.2:c.3764G>A" ], "proteinEffect": { "hgvs": "ENSP00000433982.2:p.Arg1255Gln", "hgvsWellDefined": "ENSP00000433982.2:p.Arg1255Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS759013" }, { "coordinates": [ { "allele": "A", "end": 4264, "referenceAllele": "G", "start": 4263 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000322810.8:c.4094G>A" ], "proteinEffect": { "hgvs": "ENSP00000323856.4:p.Arg1365Gln", "hgvsWellDefined": "ENSP00000323856.4:p.Arg1365Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS258128" }, { "coordinates": [ { "allele": "A", "end": 3812, "referenceAllele": "G", "start": 3811 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000345136.7:c.3683G>A" ], "proteinEffect": { "hgvs": "ENSP00000344848.3:p.Arg1228Gln", "hgvsWellDefined": "ENSP00000344848.3:p.Arg1228Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS262142" }, { "coordinates": [ { "allele": "A", "end": 3751, "referenceAllele": "G", "start": 3750 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000354589.7:c.3683G>A" ], "proteinEffect": { "hgvs": "ENSP00000346602.3:p.Arg1228Gln", "hgvsWellDefined": "ENSP00000346602.3:p.Arg1228Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS263177" }, { "coordinates": [ { "allele": "A", "end": 3766, "referenceAllele": "G", "start": 3765 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000354958.6:c.3617G>A" ], "proteinEffect": { "hgvs": "ENSP00000347044.2:p.Arg1206Gln", "hgvsWellDefined": "ENSP00000347044.2:p.Arg1206Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS263292" }, { "coordinates": [ { "allele": "A", "end": 3698, "referenceAllele": "G", "start": 3697 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000356346.7:c.3641G>A" ], "proteinEffect": { "hgvs": "ENSP00000348702.3:p.Arg1214Gln", "hgvsWellDefined": "ENSP00000348702.3:p.Arg1214Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS263729", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356346.7:c.3641G>A" }, "RefSeq": { "hgvs": "NM_201378.4:c.3641G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348702.3:p.Arg1214Gln" }, "RefSeq": { "hgvs": "NP_958780.1:p.Arg1214Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 3704, "referenceAllele": "G", "start": 3703 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000357649.6:c.3695G>A" ], "proteinEffect": { "hgvs": "ENSP00000350277.2:p.Arg1232Gln", "hgvsWellDefined": "ENSP00000350277.2:p.Arg1232Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS264188" }, { "coordinates": [ { "allele": "A", "end": 3661, "referenceAllele": "G", "start": 3660 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000398774.6:c.3587G>A" ], "proteinEffect": { "hgvs": "ENSP00000381756.2:p.Arg1196Gln", "hgvsWellDefined": "ENSP00000381756.2:p.Arg1196Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS278413" }, { "coordinates": [ { "allele": "A", "end": 3802, "referenceAllele": "G", "start": 3801 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000436759.6:c.3764G>A" ], "proteinEffect": { "hgvs": "ENSP00000388180.2:p.Arg1255Gln", "hgvsWellDefined": "ENSP00000388180.2:p.Arg1255Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS294136" }, { "coordinates": [ { "allele": "A", "end": 3752, "referenceAllele": "G", "start": 3751 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "ENST00000527096.5:c.3752G>A" ], "proteinEffect": { "hgvs": "ENSP00000434583.1:p.Arg1251Gln", "hgvsWellDefined": "ENSP00000434583.1:p.Arg1251Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS352857" }, { "@id": "http://reg.genome.network/allele/PA2825173381", "coordinates": [ { "allele": "A", "end": 3813, "referenceAllele": "G", "start": 3812 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_000445.4:c.3764G>A" ], "proteinEffect": { "hgvs": "NP_000436.2:p.Arg1255Gln", "hgvsWellDefined": "NP_000436.2:p.Arg1255Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS006507" }, { "@id": "http://reg.genome.network/allele/PA2830476630", "coordinates": [ { "allele": "A", "end": 3698, "referenceAllele": "G", "start": 3697 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201378.3:c.3641G>A" ], "proteinEffect": { "hgvs": "NP_958780.1:p.Arg1214Gln", "hgvsWellDefined": "NP_958780.1:p.Arg1214Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS044996" }, { "@id": "http://reg.genome.network/allele/PA2830483663", "coordinates": [ { "allele": "A", "end": 3766, "referenceAllele": "G", "start": 3765 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201379.2:c.3617G>A" ], "proteinEffect": { "hgvs": "NP_958781.1:p.Arg1206Gln", "hgvsWellDefined": "NP_958781.1:p.Arg1206Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS044997" }, { "@id": "http://reg.genome.network/allele/PA1139763078", "coordinates": [ { "allele": "A", "end": 4264, "referenceAllele": "G", "start": 4263 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201380.3:c.4094G>A" ], "proteinEffect": { "hgvs": "NP_958782.1:p.Arg1365Gln", "hgvsWellDefined": "NP_958782.1:p.Arg1365Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS044998" }, { "@id": "http://reg.genome.network/allele/PA2830490852", "coordinates": [ { "allele": "A", "end": 3661, "referenceAllele": "G", "start": 3660 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201381.2:c.3587G>A" ], "proteinEffect": { "hgvs": "NP_958783.1:p.Arg1196Gln", "hgvsWellDefined": "NP_958783.1:p.Arg1196Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS044999" }, { "@id": "http://reg.genome.network/allele/PA2830495487", "coordinates": [ { "allele": "A", "end": 3751, "referenceAllele": "G", "start": 3750 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201382.3:c.3683G>A" ], "proteinEffect": { "hgvs": "NP_958784.1:p.Arg1228Gln", "hgvsWellDefined": "NP_958784.1:p.Arg1228Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS045000" }, { "@id": "http://reg.genome.network/allele/PA2830500098", "coordinates": [ { "allele": "A", "end": 3704, "referenceAllele": "G", "start": 3703 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201383.2:c.3695G>A" ], "proteinEffect": { "hgvs": "NP_958785.1:p.Arg1232Gln", "hgvsWellDefined": "NP_958785.1:p.Arg1232Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS045001" }, { "@id": "http://reg.genome.network/allele/PA2830504732", "coordinates": [ { "allele": "A", "end": 3812, "referenceAllele": "G", "start": 3811 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201384.2:c.3683G>A" ], "proteinEffect": { "hgvs": "NP_958786.1:p.Arg1228Gln", "hgvsWellDefined": "NP_958786.1:p.Arg1228Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS045002" }, { "coordinates": [ { "allele": "A", "end": 4212, "referenceAllele": "G", "start": 4211 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250976.2:c.4109G>A" ], "proteinEffect": { "hgvs": "XP_005251033.1:p.Arg1370Gln", "hgvsWellDefined": "XP_005251033.1:p.Arg1370Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS059371" }, { "coordinates": [ { "allele": "A", "end": 3812, "referenceAllele": "G", "start": 3811 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250978.2:c.3710G>A" ], "proteinEffect": { "hgvs": "XP_005251035.1:p.Arg1237Gln", "hgvsWellDefined": "XP_005251035.1:p.Arg1237Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS059372" }, { "coordinates": [ { "allele": "A", "end": 3755, "referenceAllele": "G", "start": 3754 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250979.3:c.3698G>A" ], "proteinEffect": { "hgvs": "XP_005251036.1:p.Arg1233Gln", "hgvsWellDefined": "XP_005251036.1:p.Arg1233Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS059373" }, { "coordinates": [ { "allele": "A", "end": 3845, "referenceAllele": "G", "start": 3844 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250980.3:c.3698G>A" ], "proteinEffect": { "hgvs": "XP_005251037.1:p.Arg1233Gln", "hgvsWellDefined": "XP_005251037.1:p.Arg1233Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS059374" }, { "coordinates": [ { "allele": "A", "end": 3698, "referenceAllele": "G", "start": 3697 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250981.2:c.3656G>A" ], "proteinEffect": { "hgvs": "XP_005251038.1:p.Arg1219Gln", "hgvsWellDefined": "XP_005251038.1:p.Arg1219Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS059375" }, { "coordinates": [ { "allele": "A", "end": 3697, "referenceAllele": "G", "start": 3696 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250982.2:c.3632G>A" ], "proteinEffect": { "hgvs": "XP_005251039.1:p.Arg1211Gln", "hgvsWellDefined": "XP_005251039.1:p.Arg1211Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS059376" }, { "coordinates": [ { "allele": "A", "end": 3629, "referenceAllele": "G", "start": 3628 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250983.2:c.3614G>A" ], "proteinEffect": { "hgvs": "XP_005251040.1:p.Arg1205Gln", "hgvsWellDefined": "XP_005251040.1:p.Arg1205Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS059377" }, { "coordinates": [ { "allele": "A", "end": 3688, "referenceAllele": "G", "start": 3687 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250984.3:c.3602G>A" ], "proteinEffect": { "hgvs": "XP_005251041.1:p.Arg1201Gln", "hgvsWellDefined": "XP_005251041.1:p.Arg1201Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS059378" }, { "coordinates": [ { "allele": "A", "end": 3875, "referenceAllele": "G", "start": 3874 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716588.2:c.3779G>A" ], "proteinEffect": { "hgvs": "XP_006716651.1:p.Arg1260Gln", "hgvsWellDefined": "XP_006716651.1:p.Arg1260Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS071749" }, { "coordinates": [ { "allele": "A", "end": 3644, "referenceAllele": "G", "start": 3643 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716589.2:c.3629G>A" ], "proteinEffect": { "hgvs": "XP_006716652.1:p.Arg1210Gln", "hgvsWellDefined": "XP_006716652.1:p.Arg1210Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS071750" }, { "coordinates": [ { "allele": "A", "end": 3644, "referenceAllele": "G", "start": 3643 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716590.2:c.3629G>A" ], "proteinEffect": { "hgvs": "XP_006716653.1:p.Arg1210Gln", "hgvsWellDefined": "XP_006716653.1:p.Arg1210Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS071751" }, { "coordinates": [ { "allele": "A", "end": 3800, "referenceAllele": "G", "start": 3799 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517130.1:c.3698G>A" ], "proteinEffect": { "hgvs": "XP_011515432.1:p.Arg1233Gln", "hgvsWellDefined": "XP_011515432.1:p.Arg1233Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS084329" }, { "coordinates": [ { "allele": "A", "end": 3629, "referenceAllele": "G", "start": 3628 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517131.1:c.3614G>A" ], "proteinEffect": { "hgvs": "XP_011515433.1:p.Arg1205Gln", "hgvsWellDefined": "XP_011515433.1:p.Arg1205Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS084330" }, { "coordinates": [ { "allele": "A", "end": 3805, "referenceAllele": "G", "start": 3804 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517132.1:c.3710G>A" ], "proteinEffect": { "hgvs": "XP_011515434.1:p.Arg1237Gln", "hgvsWellDefined": "XP_011515434.1:p.Arg1237Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS084331" }, { "coordinates": [ { "allele": "A", "end": 4305, "referenceAllele": "G", "start": 4304 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250976.4:c.4109G>A" ], "proteinEffect": { "hgvs": "XP_005251033.1:p.Arg1370Gln", "hgvsWellDefined": "XP_005251033.1:p.Arg1370Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS533529" }, { "coordinates": [ { "allele": "A", "end": 3831, "referenceAllele": "G", "start": 3830 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250978.3:c.3710G>A" ], "proteinEffect": { "hgvs": "XP_005251035.1:p.Arg1237Gln", "hgvsWellDefined": "XP_005251035.1:p.Arg1237Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS533530" }, { "coordinates": [ { "allele": "A", "end": 3790, "referenceAllele": "G", "start": 3789 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250979.4:c.3698G>A" ], "proteinEffect": { "hgvs": "XP_005251036.1:p.Arg1233Gln", "hgvsWellDefined": "XP_005251036.1:p.Arg1233Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS533531" }, { "coordinates": [ { "allele": "A", "end": 3875, "referenceAllele": "G", "start": 3874 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250980.4:c.3698G>A" ], "proteinEffect": { "hgvs": "XP_005251037.1:p.Arg1233Gln", "hgvsWellDefined": "XP_005251037.1:p.Arg1233Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS533532" }, { "coordinates": [ { "allele": "A", "end": 3712, "referenceAllele": "G", "start": 3711 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250981.3:c.3656G>A" ], "proteinEffect": { "hgvs": "XP_005251038.1:p.Arg1219Gln", "hgvsWellDefined": "XP_005251038.1:p.Arg1219Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS533533" }, { "coordinates": [ { "allele": "A", "end": 3701, "referenceAllele": "G", "start": 3700 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250982.4:c.3632G>A" ], "proteinEffect": { "hgvs": "XP_005251039.1:p.Arg1211Gln", "hgvsWellDefined": "XP_005251039.1:p.Arg1211Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS533534" }, { "coordinates": [ { "allele": "A", "end": 5109, "referenceAllele": "G", "start": 5108 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_005250984.5:c.3602G>A" ], "proteinEffect": { "hgvs": "XP_005251041.1:p.Arg1201Gln", "hgvsWellDefined": "XP_005251041.1:p.Arg1201Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS533535" }, { "coordinates": [ { "allele": "A", "end": 3883, "referenceAllele": "G", "start": 3882 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716588.3:c.3779G>A" ], "proteinEffect": { "hgvs": "XP_006716651.1:p.Arg1260Gln", "hgvsWellDefined": "XP_006716651.1:p.Arg1260Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS539204" }, { "coordinates": [ { "allele": "A", "end": 3754, "referenceAllele": "G", "start": 3753 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_006716590.3:c.3629G>A" ], "proteinEffect": { "hgvs": "XP_006716653.1:p.Arg1210Gln", "hgvsWellDefined": "XP_006716653.1:p.Arg1210Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS539205" }, { "coordinates": [ { "allele": "A", "end": 3819, "referenceAllele": "G", "start": 3818 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517130.2:c.3698G>A" ], "proteinEffect": { "hgvs": "XP_011515432.1:p.Arg1233Gln", "hgvsWellDefined": "XP_011515432.1:p.Arg1233Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS544424" }, { "coordinates": [ { "allele": "A", "end": 3738, "referenceAllele": "G", "start": 3737 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517131.2:c.3614G>A" ], "proteinEffect": { "hgvs": "XP_011515433.1:p.Arg1205Gln", "hgvsWellDefined": "XP_011515433.1:p.Arg1205Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS544425" }, { "coordinates": [ { "allele": "A", "end": 3827, "referenceAllele": "G", "start": 3826 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "XM_011517132.2:c.3710G>A" ], "proteinEffect": { "hgvs": "XP_011515434.1:p.Arg1237Gln", "hgvsWellDefined": "XP_011515434.1:p.Arg1237Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS544426" }, { "@id": "http://reg.genome.network/allele/PA2825173381", "coordinates": [ { "allele": "A", "end": 3813, "referenceAllele": "G", "start": 3812 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_000445.5:c.3764G>A" ], "proteinEffect": { "hgvs": "NP_000436.2:p.Arg1255Gln", "hgvsWellDefined": "NP_000436.2:p.Arg1255Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS674849" }, { "@id": "http://reg.genome.network/allele/PA2830476630", "coordinates": [ { "allele": "A", "end": 3698, "referenceAllele": "G", "start": 3697 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201378.4:c.3641G>A" ], "proteinEffect": { "hgvs": "NP_958780.1:p.Arg1214Gln", "hgvsWellDefined": "NP_958780.1:p.Arg1214Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS701531", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000356346.7:c.3641G>A" }, "RefSeq": { "hgvs": "NM_201378.4:c.3641G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000348702.3:p.Arg1214Gln" }, "RefSeq": { "hgvs": "NP_958780.1:p.Arg1214Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA2830483663", "coordinates": [ { "allele": "A", "end": 3680, "referenceAllele": "G", "start": 3679 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201379.3:c.3617G>A" ], "proteinEffect": { "hgvs": "NP_958781.1:p.Arg1206Gln", "hgvsWellDefined": "NP_958781.1:p.Arg1206Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS701532" }, { "@id": "http://reg.genome.network/allele/PA1139763078", "coordinates": [ { "allele": "A", "end": 4314, "referenceAllele": "G", "start": 4313 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201380.4:c.4094G>A" ], "proteinEffect": { "hgvs": "NP_958782.1:p.Arg1365Gln", "hgvsWellDefined": "NP_958782.1:p.Arg1365Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS701533" }, { "@id": "http://reg.genome.network/allele/PA2830490852", "coordinates": [ { "allele": "A", "end": 3694, "referenceAllele": "G", "start": 3693 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201381.3:c.3587G>A" ], "proteinEffect": { "hgvs": "NP_958783.1:p.Arg1196Gln", "hgvsWellDefined": "NP_958783.1:p.Arg1196Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS701534" }, { "@id": "http://reg.genome.network/allele/PA2830495487", "coordinates": [ { "allele": "A", "end": 3778, "referenceAllele": "G", "start": 3777 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201382.4:c.3683G>A" ], "proteinEffect": { "hgvs": "NP_958784.1:p.Arg1228Gln", "hgvsWellDefined": "NP_958784.1:p.Arg1228Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS701535" }, { "@id": "http://reg.genome.network/allele/PA2830500098", "coordinates": [ { "allele": "A", "end": 3804, "referenceAllele": "G", "start": 3803 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201383.3:c.3695G>A" ], "proteinEffect": { "hgvs": "NP_958785.1:p.Arg1232Gln", "hgvsWellDefined": "NP_958785.1:p.Arg1232Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS701536" }, { "@id": "http://reg.genome.network/allele/PA2830504732", "coordinates": [ { "allele": "A", "end": 3819, "referenceAllele": "G", "start": 3818 } ], "gene": "http://reg.genome.network/gene/GN009069", "geneNCBI_id": 5339, "geneSymbol": "PLEC", "hgvs": [ "NM_201384.3:c.3683G>A" ], "proteinEffect": { "hgvs": "NP_958786.1:p.Arg1228Gln", "hgvsWellDefined": "NP_958786.1:p.Arg1228Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS701537", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000345136.8:c.3683G>A" }, "RefSeq": { "hgvs": "NM_201384.3:c.3683G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344848.3:p.Arg1228Gln" }, "RefSeq": { "hgvs": "NP_958786.1:p.Arg1228Gln" } } } } ], "type": "nucleotide" }