{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374119650", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.1022T>A (p.Leu341Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=420483[alleleid]", "alleleId": 420483, "preferredName": "NM_000264.5(PTCH1):c.1022T>A (p.Leu341Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/428819", "RCV": [ "RCV000492369" ], "variationId": 428819 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98242296A>T?assembly=hg19", "id": "chr9:g.98242296A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95480014A>T?assembly=hg38", "id": "chr9:g.95480014A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1131690970", "rs": 1131690970 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 95480014, "referenceAllele": "A", "start": 95480013 } ], "hgvs": [ "NC_000009.12:g.95480014A>T", "CM000671.2:g.95480014A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 98242296, "referenceAllele": "A", "start": 98242295 } ], "hgvs": [ "NC_000009.11:g.98242296A>T", "CM000671.1:g.98242296A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 97282117, "referenceAllele": "A", "start": 97282116 } ], "hgvs": [ "NC_000009.10:g.97282117A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 41952, "referenceAllele": "T", "start": 41951 } ], "hgvs": [ "NG_007664.1:g.41952T>A", "LRG_515:g.41952T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1324, "referenceAllele": "T", "start": 1323 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.824T>A" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Leu275Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "A", "end": 1170, "referenceAllele": "T", "start": 1169 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.1019T>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Leu340Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1019T>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1019T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Leu340Ter" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Leu340Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 713, "referenceAllele": "T", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.569T>A" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:p.Leu190Ter", "hgvsWellDefined": "ENSP00000509379.1:p.Leu190_Glu456delinsIleValGlyGlyThrValLysAsnSerThrGlyLysLeuValSerAlaHisAlaLeuGlnThrMetPheGlnLeuMetThrProLysGlnMetTyrGluHisPheLysGlyTyrGluTyrValSerHisIleAsnTrpAsnGluAspLysAlaAlaAlaIleLeuGluAlaTrpGlnArgThrTyrValGluValValHisGlnSerValAlaGlnAsnSerThrGlnLysValLeuSerPheThrThrThrThrLeuAspAspIleLeuLysSerPheSerAspValSerValIleArgValAlaSerGlyTyrLeuLeuMetLeuAlaTyrAlaCysLeuThrMetLeuArgTrpAspCysSerLysSerGlnGlyAlaValGlyLeuAlaGlyValLeuLeuValAlaLeuSerValAlaAlaGlyLeuGlyLeuCysSerLeuIleGlyIleSerPheAsnAlaAlaThrThrGlnValLeuProPheLeuAlaLeuGlyValGlyValAspAspValPheLeuLeuAlaHisAlaPheSerGluThrGlyGlnAsnLysArgIleProPheGluAspArgThrGlyGluCysLeuLysArgThrGlyAlaSerValAlaLeuThrSerIleSerAsnValThrAlaPhePheMetAlaAlaLeuIleProIleProAlaLeuArgAlaPheSerLeuGlnTyrIleLeuMetAlaHisArgGlyArgLeuSerPheAsnAspThrLeuTrpCysGlyGlyLeuLysSerTyrMetArgPheProTyrGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "A", "end": 710, "referenceAllele": "T", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.569T>A" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Leu190Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "A", "end": 1927, "referenceAllele": "T", "start": 1926 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.1022T>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Leu341Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1022T>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.1022T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Leu341Ter" }, "RefSeq": { "hgvs": "NP_000255.2:p.Leu341Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1322, "referenceAllele": "T", "start": 1321 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.1022T>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Leu341Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "A", "end": 173, "referenceAllele": "T", "start": 172 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375271.4:c.173T>A" ], "proteinEffect": { "hgvs": "ENSP00000364420.4:p.Leu58Ter", "hgvsWellDefined": "ENSP00000364420.4:p.Leu58Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS270639" }, { "coordinates": [ { "allele": "A", "end": 1164, "referenceAllele": "T", "start": 1163 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.1019T>A" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Leu340Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "A", "end": 659, "referenceAllele": "T", "start": 658 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.659T>A" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:p.Leu220Ter", "hgvsWellDefined": "ENSP00000364439.2:p.Leu220_Glu486delinsIleValGlyGlyThrValLysAsnSerThrGlyLysLeuValSerAlaHisAlaLeuGlnThrMetPheGlnLeuMetThrProLysGlnMetTyrGluHisPheLysGlyTyrGluTyrValSerHisIleAsnTrpAsnGluAspLysAlaAlaAlaIleLeuGluAlaTrpGlnArgThrTyrValGluValValHisGlnSerValAlaGlnAsnSerThrGlnLysValLeuSerPheThrThrThrThrLeuAspAspIleLeuLysSerPheSerAspValSerValIleArgValAlaSerGlyTyrLeuLeuMetLeuAlaTyrAlaCysLeuThrMetLeuArgTrpAspCysSerLysSerGlnGlyAlaValGlyLeuAlaGlyValLeuLeuValAlaLeuSerValAlaAlaGlyLeuGlyLeuCysSerLeuIleGlyIleSerPheAsnAlaAlaThrThrGlnValLeuProPheLeuAlaLeuGlyValGlyValAspAspValPheLeuLeuAlaHisAlaPheSerGluThrGlyGlnAsnLysArgIleProPheGluAspArgThrGlyGluCysLeuLysArgThrGlyAlaSerValAlaLeuThrSerIleSerAsnValThrAlaPhePheMetAlaAlaLeuIleProIleProAlaLeuArgAlaPheSerLeuGlnTyrIleLeuMetAlaHisArgGlyArgLeuSerPheAsnAspThrLeuTrpCysGlyGlyLeuLysSerTyrMetArgPheProTyrGluGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "A", "end": 1084, "referenceAllele": "T", "start": 1083 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.569T>A" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Leu190Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "T", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.569T>A" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Leu190Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "A", "end": 1010, "referenceAllele": "T", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.569T>A" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Leu190Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "A", "end": 1410, "referenceAllele": "T", "start": 1409 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.824T>A" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Leu275Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "A", "end": 1318, "referenceAllele": "T", "start": 1317 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.824T>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Leu275Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "A", "end": 143, "referenceAllele": "T", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000488809.2:n.143T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS327010" }, { "coordinates": [ { "allele": "A", "end": 535, "referenceAllele": "T", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000548420.1:c.182T>A" ], "proteinEffect": { "hgvs": "ENSP00000449078.1:p.Leu61Ter", "hgvsWellDefined": "ENSP00000449078.1:p.Leu61_Val67del" }, "referenceSequence": "http://reg.genome.network/refseq/RS366846" }, { "coordinates": [ { "allele": "A", "end": 1210, "referenceAllele": "T", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.1022T>A", "LRG_515t1:c.1022T>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Leu341Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "coordinates": [ { "allele": "A", "end": 1318, "referenceAllele": "T", "start": 1317 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.824T>A", "LRG_515t2:c.824T>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Leu275Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "coordinates": [ { "allele": "A", "end": 1164, "referenceAllele": "T", "start": 1163 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.1019T>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Leu340Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "T", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.569T>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Leu190Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "coordinates": [ { "allele": "A", "end": 911, "referenceAllele": "T", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.569T>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Leu190Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "coordinates": [ { "allele": "A", "end": 1010, "referenceAllele": "T", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.569T>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Leu190Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "coordinates": [ { "allele": "A", "end": 1084, "referenceAllele": "T", "start": 1083 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.569T>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Leu190Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "A", "end": 768, "referenceAllele": "T", "start": 767 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.569T>A" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Leu190Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "A", "end": 1222, "referenceAllele": "T", "start": 1221 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.1022T>A" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Leu341Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "A", "end": 717, "referenceAllele": "T", "start": 716 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.569T>A" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Leu190Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "A", "end": 705, "referenceAllele": "T", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.569T>A" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Leu190Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "A", "end": 692, "referenceAllele": "T", "start": 691 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.569T>A" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Leu190Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "A", "end": 675, "referenceAllele": "T", "start": 674 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.569T>A" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Leu190Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "A", "end": 469, "referenceAllele": "T", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.182T>A" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Leu61Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "A", "end": 1222, "referenceAllele": "T", "start": 1221 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.1022T>A" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Leu341Ter", "hgvsWellDefined": "XP_011517176.1:p.Leu341_Ala1156delinsIleValGlyGlyThrValLysAsnSerThrGlyLysLeuValSerAlaHisAlaLeuGlnThrMetPheGlnLeuMetThrProLysGlnMetTyrGluHisPheLysGlyTyrGluTyrValSerHisIleAsnTrpAsnGluAspLysAlaAlaAlaIleLeuGluAlaTrpGlnArgThrTyrValGluValValHisGlnSerValAlaGlnAsnSerThrGlnLysValLeuSerPheThrThrThrThrLeuAspAspIleLeuLysSerPheSerAspValSerValIleArgValAlaSerGlyTyrLeuLeuMetLeuAlaTyrAlaCysLeuThrMetLeuArgTrpAspCysSerLysSerGlnGlyAlaValGlyLeuAlaGlyValLeuLeuValAlaLeuSerValAlaAlaGlyLeuGlyLeuCysSerLeuIleGlyIleSerPheAsnAlaAlaThrThrGlnValLeuProPheLeuAlaLeuGlyValGlyValAspAspValPheLeuLeuAlaHisAlaPheSerGluThrGlyGlnAsnLysArgIleProPheGluAspArgThrGlyGluCysLeuLysArgThrGlyAlaSerValAlaLeuThrSerIleSerAsnValThrAlaPhePheMetAlaAlaLeuIleProIleProAlaLeuArgAlaPheSerLeuGlnAlaAlaValValValValPheAsnPheAlaMetValLeuLeuIlePheProAlaIleLeuSerMetAspLeuTyrArgArgGluAspArgArgLeuAspIlePheCysCysPheThrSerProCysValSerArgValIleGlnValGluProGlnAlaTyrThrAspThrHisAspAsnThrArgTyrSerProProProProTyrSerSerHisSerPheAlaHisGluThrGlnIleThrMetGlnSerThrValGlnLeuArgThrGluTyrAspProHisThrHisValTyrTyrThrThrAlaGluProArgSerGluIleSerValGlnProValThrValThrGlnAspThrLeuSerCysGlnSerProGluSerThrSerSerThrArgAspLeuLeuSerGlnPheSerAspSerSerLeuHisCysLeuGluProProCysThrLysTrpThrLeuSerSerPheAlaGluLysHisTyrAlaProPheLeuLeuLysProLysAlaLysValValValIlePheLeuPheLeuGlyLeuLeuGlyValSerLeuTyrGlyThrThrArgValArgAspGlyLeuAspLeuThrAspIleValProArgGluThrArgGluTyrAspPheIleAlaAlaGlnPheLysTyrPheSerPheTyrAsnMetTyrIleValThrGlnLysAlaAspTyrProAsnIleGlnHisLeuLeuTyrAspLeuHisArgSerPheSerAsnValLysTyrValMetLeuGluGluAsnLysGlnLeuProLysMetTrpLeuHisTyrPheArgAspTrpLeuGlnGlyLeuGlnAspAlaPheAspSerAspTrpGluThrGlyLysIleMetProAsnAsnTyrLysAsnGlySerAspAspGlyValLeuAlaTyrLysLeuLeuValGlnThrGlySerArgAspLysProIleAspIleSerGlnLeuThrLysGlnArgLeuValAspAlaAspGlyIleIleAsnProSerAlaPheTyrIleTyrLeuThrAlaTrpValSerAsnAspProValAlaTyrAlaAlaSerGlnAlaAsnIleArgProHisArgProGluTrpValHisAspLysAlaAspTyrMetProGluThrArgLeuArgIleProAlaAlaGluProIleGluTyrAlaGlnPheProPheTyrLeuAsnGlyLeuArgAspThrSerAspPheValGluAlaIleGluLysValArgThrIleCysSerAsnTyrThrSerLeuGlyLeuSerSerTyrProAsnGlyTyrProPheLeuPheTrpGluGlnTyrIleGlyLeuArgHisTrpLeuLeuLeuPheIleSerValValLeuAlaCysThrPheLeuValCysAlaValPheLeuLeuAsnProTrpThrAlaGlyIleIleValMetValLeuAlaLeuMetThrValGluLeuPheGlyMetMetGlyLeuIleGlyIleLysLeuSerAlaValProValValIleLeuIleAlaSerValGlyIleGlyValGluPheThrValHisValAlaLeuAlaPheLeuThrAlaIleGlyAspLysAsnArgArgAlaValLeuAlaLeuGluHisMetPheAlaProValLeuAspGlyAlaValSerThrLeuLeuGlyValLeuMetLeuAlaGlySerGluPheAspPheIleValArgCysLeuGlnProThrAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "coordinates": [ { "allele": "A", "end": 1210, "referenceAllele": "T", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.1022T>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Leu341Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "coordinates": [ { "allele": "A", "end": 1410, "referenceAllele": "T", "start": 1409 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.824T>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Leu275Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "coordinates": [ { "allele": "A", "end": 1164, "referenceAllele": "T", "start": 1163 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.1019T>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Leu340Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "T", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.569T>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Leu190Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "coordinates": [ { "allele": "A", "end": 911, "referenceAllele": "T", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.569T>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Leu190Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "coordinates": [ { "allele": "A", "end": 1010, "referenceAllele": "T", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.569T>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Leu190Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "coordinates": [ { "allele": "A", "end": 1084, "referenceAllele": "T", "start": 1083 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.569T>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Leu190Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "coordinates": [ { "allele": "A", "end": 1210, "referenceAllele": "T", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.1022T>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Leu341Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "A", "end": 1210, "referenceAllele": "T", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.1210T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "coordinates": [ { "allele": "A", "end": 1927, "referenceAllele": "T", "start": 1926 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.1022T>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Leu341Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1022T>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.1022T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Leu341Ter" }, "RefSeq": { "hgvs": "NP_000255.2:p.Leu341Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1020, "referenceAllele": "T", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.569T>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Leu190Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "coordinates": [ { "allele": "A", "end": 1927, "referenceAllele": "T", "start": 1926 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.1022T>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Leu341Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "A", "end": 1927, "referenceAllele": "T", "start": 1926 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.1927T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "coordinates": [ { "allele": "A", "end": 1324, "referenceAllele": "T", "start": 1323 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.824T>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Leu275Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "coordinates": [ { "allele": "A", "end": 1170, "referenceAllele": "T", "start": 1169 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.1019T>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Leu340Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1019T>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1019T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Leu340Ter" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Leu340Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "T", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.569T>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Leu190Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "coordinates": [ { "allele": "A", "end": 911, "referenceAllele": "T", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.569T>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Leu190Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "coordinates": [ { "allele": "A", "end": 1084, "referenceAllele": "T", "start": 1083 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.569T>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Leu190Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }