{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374119426", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.1119C>A (p.Tyr373Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98241378G>T?assembly=hg19", "id": "chr9:g.98241378G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95479096G>T?assembly=hg38", "id": "chr9:g.95479096G>T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 95479096, "referenceAllele": "G", "start": 95479095 } ], "hgvs": [ "NC_000009.12:g.95479096G>T", "CM000671.2:g.95479096G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 98241378, "referenceAllele": "G", "start": 98241377 } ], "hgvs": [ "NC_000009.11:g.98241378G>T", "CM000671.1:g.98241378G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 97281199, "referenceAllele": "G", "start": 97281198 } ], "hgvs": [ "NC_000009.10:g.97281199G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 42870, "referenceAllele": "C", "start": 42869 } ], "hgvs": [ "NG_007664.1:g.42870C>A", "LRG_515:g.42870C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1421, "referenceAllele": "C", "start": 1420 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.921C>A" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Tyr307Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "A", "end": 1267, "referenceAllele": "C", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.1116C>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Tyr372Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1116C>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1116C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Tyr372Ter" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Tyr372Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 810, "referenceAllele": "C", "start": 809 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.666C>A" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:p.Tyr222Ter", "hgvsWellDefined": "ENSP00000509379.1:p.Tyr222_Glu456delinsGluHisPheLysGlyTyrGluTyrValSerHisIleAsnTrpAsnGluAspLysAlaAlaAlaIleLeuGluAlaTrpGlnArgThrTyrValGluValValHisGlnSerValAlaGlnAsnSerThrGlnLysValLeuSerPheThrThrThrThrLeuAspAspIleLeuLysSerPheSerAspValSerValIleArgValAlaSerGlyTyrLeuLeuMetLeuAlaTyrAlaCysLeuThrMetLeuArgTrpAspCysSerLysSerGlnGlyAlaValGlyLeuAlaGlyValLeuLeuValAlaLeuSerValAlaAlaGlyLeuGlyLeuCysSerLeuIleGlyIleSerPheAsnAlaAlaThrThrGlnValLeuProPheLeuAlaLeuGlyValGlyValAspAspValPheLeuLeuAlaHisAlaPheSerGluThrGlyGlnAsnLysArgIleProPheGluAspArgThrGlyGluCysLeuLysArgThrGlyAlaSerValAlaLeuThrSerIleSerAsnValThrAlaPhePheMetAlaAlaLeuIleProIleProAlaLeuArgAlaPheSerLeuGlnTyrIleLeuMetAlaHisArgGlyArgLeuSerPheAsnAspThrLeuTrpCysGlyGlyLeuLysSerTyrMetArgPheProTyrGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "A", "end": 807, "referenceAllele": "C", "start": 806 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.666C>A" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Tyr222Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "A", "end": 2024, "referenceAllele": "C", "start": 2023 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.1119C>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Tyr373Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1119C>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.1119C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Tyr373Ter" }, "RefSeq": { "hgvs": "NP_000255.2:p.Tyr373Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1419, "referenceAllele": "C", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.1119C>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Tyr373Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "A", "end": 270, "referenceAllele": "C", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375271.4:c.270C>A" ], "proteinEffect": { "hgvs": "ENSP00000364420.4:p.Tyr90Ter", "hgvsWellDefined": "ENSP00000364420.4:p.Tyr90Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS270639" }, { "coordinates": [ { "allele": "A", "end": 1261, "referenceAllele": "C", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.1116C>A" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Tyr372Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "A", "end": 756, "referenceAllele": "C", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.756C>A" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:p.Tyr252Ter", "hgvsWellDefined": "ENSP00000364439.2:p.Tyr252_Glu486delinsGluHisPheLysGlyTyrGluTyrValSerHisIleAsnTrpAsnGluAspLysAlaAlaAlaIleLeuGluAlaTrpGlnArgThrTyrValGluValValHisGlnSerValAlaGlnAsnSerThrGlnLysValLeuSerPheThrThrThrThrLeuAspAspIleLeuLysSerPheSerAspValSerValIleArgValAlaSerGlyTyrLeuLeuMetLeuAlaTyrAlaCysLeuThrMetLeuArgTrpAspCysSerLysSerGlnGlyAlaValGlyLeuAlaGlyValLeuLeuValAlaLeuSerValAlaAlaGlyLeuGlyLeuCysSerLeuIleGlyIleSerPheAsnAlaAlaThrThrGlnValLeuProPheLeuAlaLeuGlyValGlyValAspAspValPheLeuLeuAlaHisAlaPheSerGluThrGlyGlnAsnLysArgIleProPheGluAspArgThrGlyGluCysLeuLysArgThrGlyAlaSerValAlaLeuThrSerIleSerAsnValThrAlaPhePheMetAlaAlaLeuIleProIleProAlaLeuArgAlaPheSerLeuGlnTyrIleLeuMetAlaHisArgGlyArgLeuSerPheAsnAspThrLeuTrpCysGlyGlyLeuLysSerTyrMetArgPheProTyrGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "A", "end": 1181, "referenceAllele": "C", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.666C>A" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Tyr222Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "A", "end": 1025, "referenceAllele": "C", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.666C>A" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Tyr222Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "A", "end": 1107, "referenceAllele": "C", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.666C>A" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Tyr222Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "A", "end": 1507, "referenceAllele": "C", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.921C>A" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Tyr307Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "C", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.921C>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Tyr307Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "A", "end": 1307, "referenceAllele": "C", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.1119C>A", "LRG_515t1:c.1119C>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Tyr373Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "coordinates": [ { "allele": "A", "end": 1415, "referenceAllele": "C", "start": 1414 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.921C>A", "LRG_515t2:c.921C>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Tyr307Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "coordinates": [ { "allele": "A", "end": 1261, "referenceAllele": "C", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.1116C>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Tyr372Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "coordinates": [ { "allele": "A", "end": 1025, "referenceAllele": "C", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.666C>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Tyr222Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "coordinates": [ { "allele": "A", "end": 1008, "referenceAllele": "C", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.666C>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Tyr222Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "coordinates": [ { "allele": "A", "end": 1107, "referenceAllele": "C", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.666C>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Tyr222Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "coordinates": [ { "allele": "A", "end": 1181, "referenceAllele": "C", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.666C>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Tyr222Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "A", "end": 865, "referenceAllele": "C", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.666C>A" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Tyr222Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "A", "end": 1319, "referenceAllele": "C", "start": 1318 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.1119C>A" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Tyr373Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "A", "end": 814, "referenceAllele": "C", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.666C>A" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Tyr222Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "A", "end": 802, "referenceAllele": "C", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.666C>A" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Tyr222Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "A", "end": 789, "referenceAllele": "C", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.666C>A" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Tyr222Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "A", "end": 772, "referenceAllele": "C", "start": 771 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.666C>A" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Tyr222Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "A", "end": 566, "referenceAllele": "C", "start": 565 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.279C>A" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Tyr93Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "A", "end": 1319, "referenceAllele": "C", "start": 1318 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.1119C>A" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Tyr373Ter", "hgvsWellDefined": "XP_011517176.1:p.Tyr373_Ala1156delinsGluHisPheLysGlyTyrGluTyrValSerHisIleAsnTrpAsnGluAspLysAlaAlaAlaIleLeuGluAlaTrpGlnArgThrTyrValGluValValHisGlnSerValAlaGlnAsnSerThrGlnLysValLeuSerPheThrThrThrThrLeuAspAspIleLeuLysSerPheSerAspValSerValIleArgValAlaSerGlyTyrLeuLeuMetLeuAlaTyrAlaCysLeuThrMetLeuArgTrpAspCysSerLysSerGlnGlyAlaValGlyLeuAlaGlyValLeuLeuValAlaLeuSerValAlaAlaGlyLeuGlyLeuCysSerLeuIleGlyIleSerPheAsnAlaAlaThrThrGlnValLeuProPheLeuAlaLeuGlyValGlyValAspAspValPheLeuLeuAlaHisAlaPheSerGluThrGlyGlnAsnLysArgIleProPheGluAspArgThrGlyGluCysLeuLysArgThrGlyAlaSerValAlaLeuThrSerIleSerAsnValThrAlaPhePheMetAlaAlaLeuIleProIleProAlaLeuArgAlaPheSerLeuGlnAlaAlaValValValValPheAsnPheAlaMetValLeuLeuIlePheProAlaIleLeuSerMetAspLeuTyrArgArgGluAspArgArgLeuAspIlePheCysCysPheThrSerProCysValSerArgValIleGlnValGluProGlnAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgCysLeuGlnProThrAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "coordinates": [ { "allele": "A", "end": 1307, "referenceAllele": "C", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.1119C>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Tyr373Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "coordinates": [ { "allele": "A", "end": 1507, "referenceAllele": "C", "start": 1506 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.921C>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Tyr307Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "coordinates": [ { "allele": "A", "end": 1261, "referenceAllele": "C", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.1116C>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Tyr372Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "coordinates": [ { "allele": "A", "end": 1025, "referenceAllele": "C", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.666C>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Tyr222Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "coordinates": [ { "allele": "A", "end": 1008, "referenceAllele": "C", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.666C>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Tyr222Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "coordinates": [ { "allele": "A", "end": 1107, "referenceAllele": "C", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.666C>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Tyr222Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "coordinates": [ { "allele": "A", "end": 1181, "referenceAllele": "C", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.666C>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Tyr222Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "coordinates": [ { "allele": "A", "end": 1307, "referenceAllele": "C", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.1119C>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Tyr373Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "A", "end": 1307, "referenceAllele": "C", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.1307C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "coordinates": [ { "allele": "A", "end": 2024, "referenceAllele": "C", "start": 2023 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.1119C>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Tyr373Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1119C>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.1119C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Tyr373Ter" }, "RefSeq": { "hgvs": "NP_000255.2:p.Tyr373Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1117, "referenceAllele": "C", "start": 1116 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.666C>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Tyr222Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "coordinates": [ { "allele": "A", "end": 2024, "referenceAllele": "C", "start": 2023 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.1119C>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Tyr373Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "A", "end": 2024, "referenceAllele": "C", "start": 2023 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.2024C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "coordinates": [ { "allele": "A", "end": 1421, "referenceAllele": "C", "start": 1420 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.921C>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Tyr307Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "coordinates": [ { "allele": "A", "end": 1267, "referenceAllele": "C", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.1116C>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Tyr372Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1116C>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1116C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Tyr372Ter" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Tyr372Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1025, "referenceAllele": "C", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.666C>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Tyr222Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "coordinates": [ { "allele": "A", "end": 1008, "referenceAllele": "C", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.666C>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Tyr222Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "coordinates": [ { "allele": "A", "end": 1181, "referenceAllele": "C", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.666C>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Tyr222Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }