{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1677459474", "communityStandardTitle": [ "NM_004562.3(PRKN):c.1292G= (p.Cys431=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397514694", "rs": 397514694 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "C", "end": 161350205, "referenceAllele": "C", "start": 161350204 } ], "hgvs": [ "NC_000006.12:g.161350205C=", "CM000668.2:g.161350205C=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "C", "end": 161771237, "referenceAllele": "C", "start": 161771236 } ], "hgvs": [ "NC_000006.11:g.161771237C=", "CM000668.1:g.161771237C=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", "coordinates": [ { "allele": "C", "end": 161691227, "referenceAllele": "C", "start": 161691226 } ], "hgvs": [ "NC_000006.10:g.161691227C=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000006" }, { "coordinates": [ { "allele": "G", "end": 1382598, "referenceAllele": "G", "start": 1382597 } ], "hgvs": [ "NG_008289.1:g.1382598G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS001003" }, { "coordinates": [ { "allele": "G", "end": 1382598, "referenceAllele": "G", "start": 1382597 } ], "hgvs": [ "NG_008289.2:g.1382598G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS616099" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1170, "referenceAllele": "G", "start": 1169 } ], "gene": "http://reg.genome.network/gene/GN008607", "geneNCBI_id": 5071, "geneSymbol": "PRKN", "hgvs": [ "ENST00000338468.8:c.1170G=" ], "proteinEffect": { "hgvs": "ENSP00000343589.4:n.1170G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS747741" }, { "coordinates": [ { "allele": "G", "end": 1051, "referenceAllele": "G", "start": 1050 } ], "gene": "http://reg.genome.network/gene/GN008607", "geneNCBI_id": 5071, "geneSymbol": "PRKN", "hgvs": [ "ENST00000366894.6:c.1051G=" ], "proteinEffect": { "hgvs": "ENSP00000355860.2:n.1051G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS749872" }, { "coordinates": [ { "allele": "G", "end": 1390, "referenceAllele": "G", "start": 1389 } ], "gene": "http://reg.genome.network/gene/GN008607", "geneNCBI_id": 5071, "geneSymbol": "PRKN", "hgvs": [ "ENST00000366898.6:c.1292G=" ], "proteinEffect": { "hgvs": "ENSP00000355865.1:p.Cys431=" }, "referenceSequence": "http://reg.genome.network/refseq/RS749873", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000366898.6:c.1292G=" }, "RefSeq": { "hgvs": "NM_004562.3:c.1292G=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355865.1:p.Cys431=" }, "RefSeq": { "hgvs": "NP_004553.2:p.Cys431=" } } } }, { "coordinates": [ { "allele": "G", "end": 1373, "referenceAllele": "G", "start": 1372 } ], "gene": "http://reg.genome.network/gene/GN008607", "geneNCBI_id": 5071, "geneSymbol": "PRKN", "hgvs": [ "ENST00000673871.1:c.1373G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS773932" }, { "coordinates": [ { "allele": "G", "end": 677, "referenceAllele": "G", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN008607", "geneNCBI_id": 5071, "geneSymbol": "PRKN", "hgvs": [ "ENST00000674006.1:n.677G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS774040" }, { "coordinates": [ { "allele": "G", "end": 928, "referenceAllele": "G", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN008607", "geneNCBI_id": 5071, "geneSymbol": "PRKN", "hgvs": [ "ENST00000674436.1:n.928G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS774403" }, { "coordinates": [ { "allele": "G", "end": 1170, "referenceAllele": "G", "start": 1169 } ], "gene": "http://reg.genome.network/gene/GN008607", "geneNCBI_id": 5071, "geneSymbol": "PRKN", "hgvs": [ "ENST00000338468.7:c.719G=" ], "proteinEffect": { "hgvs": "ENSP00000343589.3:p.Cys240=" }, "referenceSequence": "http://reg.genome.network/refseq/RS260660" }, { "coordinates": [ { "allele": "G", "end": 1051, "referenceAllele": "G", "start": 1050 } ], "gene": "http://reg.genome.network/gene/GN008607", "geneNCBI_id": 5071, "geneSymbol": "PRKN", "hgvs": [ "ENST00000366894.5:c.719G=" ], "proteinEffect": { "hgvs": "ENSP00000355860.1:p.Cys240=" }, "referenceSequence": "http://reg.genome.network/refseq/RS266076" }, { "coordinates": [ { "allele": "G", "end": 948, "referenceAllele": "G", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN008607", "geneNCBI_id": 5071, "geneSymbol": "PRKN", "hgvs": [ "ENST00000366896.5:c.845G=" ], "proteinEffect": { "hgvs": "ENSP00000355862.1:p.Cys282=" }, "referenceSequence": "http://reg.genome.network/refseq/RS266077" }, { "coordinates": [ { "allele": "G", "end": 1311, "referenceAllele": "G", "start": 1310 } ], "gene": "http://reg.genome.network/gene/GN008607", "geneNCBI_id": 5071, "geneSymbol": "PRKN", "hgvs": [ "ENST00000366897.5:c.1208G=" ], "proteinEffect": { "hgvs": "ENSP00000355863.1:p.Cys403=" }, "referenceSequence": "http://reg.genome.network/refseq/RS266078" }, { "coordinates": [ { "allele": "G", "end": 1395, "referenceAllele": "G", "start": 1394 } ], "gene": "http://reg.genome.network/gene/GN008607", "geneNCBI_id": 5071, "geneSymbol": "PRKN", "hgvs": [ "ENST00000366898.5:c.1292G=" ], "proteinEffect": { "hgvs": "ENSP00000355865.1:p.Cys431=" }, "referenceSequence": "http://reg.genome.network/refseq/RS266079" }, { "coordinates": [ { "allele": "G", "end": 798, "referenceAllele": "G", "start": 797 } ], "gene": "http://reg.genome.network/gene/GN008607", "geneNCBI_id": 5071, "geneSymbol": "PRKN", "hgvs": [ "ENST00000479615.5:c.*68G=" ], "proteinEffect": { "hgvs": "ENSP00000434414.1:n.*68G=" }, "referenceSequence": "http://reg.genome.network/refseq/RS319949" }, { "coordinates": [ { "allele": "G", "end": 425, "referenceAllele": "G", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN008607", "geneNCBI_id": 5071, "geneSymbol": "PRKN", "hgvs": [ "ENST00000610470.4:c.425G=" ], "proteinEffect": { "hgvs": "ENSP00000483773.1:p.Cys142=" }, "referenceSequence": "http://reg.genome.network/refseq/RS400435" }, { "@id": "http://reg.genome.network/allele/PA3072256143", "coordinates": [ { "allele": "G", "end": 1426, "referenceAllele": "G", "start": 1425 } ], "gene": "http://reg.genome.network/gene/GN008607", "geneNCBI_id": 5071, "geneSymbol": "PRKN", "hgvs": [ "NM_004562.2:c.1292G=" ], "proteinEffect": { "hgvs": "NP_004553.2:p.Cys431=" }, "referenceSequence": "http://reg.genome.network/refseq/RS029719" }, { "coordinates": [ { "allele": "G", "end": 1342, "referenceAllele": "G", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN008607", "geneNCBI_id": 5071, "geneSymbol": "PRKN", "hgvs": [ "NM_013987.2:c.1208G=" ], "proteinEffect": { "hgvs": "NP_054642.2:p.Cys403=" }, "referenceSequence": "http://reg.genome.network/refseq/RS032851" }, { "coordinates": [ { "allele": "G", "end": 979, "referenceAllele": "G", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN008607", "geneNCBI_id": 5071, "geneSymbol": "PRKN", "hgvs": [ "NM_013988.2:c.845G=" ], "proteinEffect": { "hgvs": "NP_054643.2:p.Cys282=" }, "referenceSequence": "http://reg.genome.network/refseq/RS032852" }, { "coordinates": [ { "allele": "G", "end": 1423, "referenceAllele": "G", "start": 1422 } ], "gene": "http://reg.genome.network/gene/GN008607", "geneNCBI_id": 5071, "geneSymbol": "PRKN", "hgvs": [ "XM_011535863.1:c.1289G=" ], "proteinEffect": { "hgvs": "XP_011534165.1:p.Cys430=" }, "referenceSequence": "http://reg.genome.network/refseq/RS102865" }, { "coordinates": [ { "allele": "G", "end": 2340, "referenceAllele": "G", "start": 2339 } ], "gene": "http://reg.genome.network/gene/GN008607", "geneNCBI_id": 5071, "geneSymbol": "PRKN", "hgvs": [ "XM_017010908.1:c.1406G=" ], "proteinEffect": { "hgvs": "XP_016866397.1:p.Cys469=" }, "referenceSequence": "http://reg.genome.network/refseq/RS564867" }, { "coordinates": [ { "allele": "G", "end": 1225, "referenceAllele": "G", "start": 1224 } ], "gene": "http://reg.genome.network/gene/GN008607", "geneNCBI_id": 5071, "geneSymbol": "PRKN", "hgvs": [ "XM_017010909.2:c.1052G=" ], "proteinEffect": { "hgvs": "XP_016866398.1:p.Cys351=" }, "referenceSequence": "http://reg.genome.network/refseq/RS564868" }, { "coordinates": [ { "allele": "G", "end": 1238, "referenceAllele": "G", "start": 1237 } ], "gene": "http://reg.genome.network/gene/GN008607", "geneNCBI_id": 5071, "geneSymbol": "PRKN", "hgvs": [ "XM_024446449.1:c.1055G=" ], "proteinEffect": { "hgvs": "XP_024302217.1:p.Cys352=" }, "referenceSequence": "http://reg.genome.network/refseq/RS580111" }, { "coordinates": [ { "allele": "G", "end": 1484, "referenceAllele": "G", "start": 1483 } ], "gene": "http://reg.genome.network/gene/GN008607", "geneNCBI_id": 5071, "geneSymbol": "PRKN", "hgvs": [ "XR_001743443.2:n.1484G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS592669" }, { "@id": "http://reg.genome.network/allele/PA3072256143", "coordinates": [ { "allele": "G", "end": 1390, "referenceAllele": "G", "start": 1389 } ], "gene": "http://reg.genome.network/gene/GN008607", "geneNCBI_id": 5071, "geneSymbol": "PRKN", "hgvs": [ "NM_004562.3:c.1292G=" ], "proteinEffect": { "hgvs": "NP_004553.2:p.Cys431=" }, "referenceSequence": "http://reg.genome.network/refseq/RS666545", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000366898.6:c.1292G=" }, "RefSeq": { "hgvs": "NM_004562.3:c.1292G=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000355865.1:p.Cys431=" }, "RefSeq": { "hgvs": "NP_004553.2:p.Cys431=" } } } }, { "coordinates": [ { "allele": "G", "end": 1306, "referenceAllele": "G", "start": 1305 } ], "gene": "http://reg.genome.network/gene/GN008607", "geneNCBI_id": 5071, "geneSymbol": "PRKN", "hgvs": [ "NM_013987.3:c.1208G=" ], "proteinEffect": { "hgvs": "NP_054642.2:p.Cys403=" }, "referenceSequence": "http://reg.genome.network/refseq/RS697161" }, { "coordinates": [ { "allele": "G", "end": 943, "referenceAllele": "G", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN008607", "geneNCBI_id": 5071, "geneSymbol": "PRKN", "hgvs": [ "NM_013988.3:c.845G=" ], "proteinEffect": { "hgvs": "NP_054643.2:p.Cys282=" }, "referenceSequence": "http://reg.genome.network/refseq/RS697162" } ], "type": "nucleotide" }