{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374115812", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.2026T>C (p.Tyr676His)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1111493", "active": true, "id": "COSM1111493" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1111494", "active": true, "id": "COSM1111494" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1111496", "active": true, "id": "COSM1111496" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1111497", "active": true, "id": "COSM1111497" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2429251[alleleid]", "alleleId": 2429251, "preferredName": "NM_000264.5(PTCH1):c.2026T>C (p.Tyr676His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2449625", "RCV": [ "RCV003171650", "RCV003609263" ], "variationId": 2449625 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98231257A>G?assembly=hg19", "id": "chr9:g.98231257A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95468975A>G?assembly=hg38", "id": "chr9:g.95468975A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1270892737", "rs": 1270892737 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98231257-A-G?dataset=gnomad_r2_1", "id": "9-98231257-A-G", "variant": "9:98231257 A / G" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95468975-A-G?dataset=gnomad_r3", "id": "9-95468975-A-G", "variant": "9:95468975 A / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95468975-A-G?dataset=gnomad_r4", "id": "9-95468975-A-G", "variant": "9:95468975 A / G" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 95468975, "referenceAllele": "A", "start": 95468974 } ], "hgvs": [ "NC_000009.12:g.95468975A>G", "CM000671.2:g.95468975A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 98231257, "referenceAllele": "A", "start": 98231256 } ], "hgvs": [ "NC_000009.11:g.98231257A>G", "CM000671.1:g.98231257A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 97271078, "referenceAllele": "A", "start": 97271077 } ], "hgvs": [ "NC_000009.10:g.97271078A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "C", "end": 52991, "referenceAllele": "T", "start": 52990 } ], "hgvs": [ "NG_007664.1:g.52991T>C", "LRG_515:g.52991T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 2328, "referenceAllele": "T", "start": 2327 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.1828T>C" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Tyr610His", "hgvsWellDefined": "ENSP00000518556.1:p.Tyr610His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "C", "end": 2174, "referenceAllele": "T", "start": 2173 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.2023T>C" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Tyr675His", "hgvsWellDefined": "ENSP00000389744.2:p.Tyr675His" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.2023T>C" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2023T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Tyr675His" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Tyr675His" } } } }, { "coordinates": [ { "allele": "C", "end": 1849, "referenceAllele": "T", "start": 1848 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*334T>C" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*334T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "C", "end": 1714, "referenceAllele": "T", "start": 1713 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.1573T>C" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Tyr525His", "hgvsWellDefined": "ENSP00000510238.1:p.Tyr525His" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "C", "end": 2931, "referenceAllele": "T", "start": 2930 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.2026T>C" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Tyr676His", "hgvsWellDefined": "ENSP00000332353.6:p.Tyr676His" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2026T>C" }, "RefSeq": { "hgvs": "NM_000264.5:c.2026T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Tyr676His" }, "RefSeq": { "hgvs": "NP_000255.2:p.Tyr676His" } } } }, { "coordinates": [ { "allele": "C", "end": 2326, "referenceAllele": "T", "start": 2325 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.2026T>C" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Tyr676His", "hgvsWellDefined": "ENSP00000332353.6:p.Tyr676His" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "C", "end": 1021, "referenceAllele": "T", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375271.4:c.1021T>C" ], "proteinEffect": { "hgvs": "ENSP00000364420.4:p.Tyr341His", "hgvsWellDefined": "ENSP00000364420.4:p.Tyr341His" }, "referenceSequence": "http://reg.genome.network/refseq/RS270639" }, { "coordinates": [ { "allele": "C", "end": 2168, "referenceAllele": "T", "start": 2167 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.2023T>C" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Tyr675His", "hgvsWellDefined": "ENSP00000364423.2:p.Tyr675His" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "C", "end": 1795, "referenceAllele": "T", "start": 1794 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.1795T>C" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.1795T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "C", "end": 2088, "referenceAllele": "T", "start": 2087 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.1573T>C" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Tyr525His", "hgvsWellDefined": "ENSP00000396135.1:p.Tyr525His" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "C", "end": 1932, "referenceAllele": "T", "start": 1931 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.1573T>C" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Tyr525His", "hgvsWellDefined": "ENSP00000399981.1:p.Tyr525His" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "C", "end": 2014, "referenceAllele": "T", "start": 2013 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.1573T>C" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Tyr525His", "hgvsWellDefined": "ENSP00000414823.2:p.Tyr525His" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "C", "end": 2414, "referenceAllele": "T", "start": 2413 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.1828T>C" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Tyr610His", "hgvsWellDefined": "ENSP00000410287.2:p.Tyr610His" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "C", "end": 2322, "referenceAllele": "T", "start": 2321 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.1828T>C" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Tyr610His", "hgvsWellDefined": "ENSP00000389744.1:p.Tyr610His" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "C", "end": 215, "referenceAllele": "T", "start": 214 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000549678.1:n.215T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS367610" }, { "@id": "http://reg.genome.network/allele/PA2580108402", "coordinates": [ { "allele": "C", "end": 2214, "referenceAllele": "T", "start": 2213 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.2026T>C", "LRG_515t1:c.2026T>C" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Tyr676His", "hgvsWellDefined": "NP_000255.2:p.Tyr676His" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825488910", "coordinates": [ { "allele": "C", "end": 2322, "referenceAllele": "T", "start": 2321 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.1828T>C", "LRG_515t2:c.1828T>C" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Tyr610His", "hgvsWellDefined": "NP_001077071.1:p.Tyr610His" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825494979", "coordinates": [ { "allele": "C", "end": 2168, "referenceAllele": "T", "start": 2167 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.2023T>C" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Tyr675His", "hgvsWellDefined": "NP_001077072.1:p.Tyr675His" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825502166", "coordinates": [ { "allele": "C", "end": 1932, "referenceAllele": "T", "start": 1931 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.1573T>C" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Tyr525His", "hgvsWellDefined": "NP_001077073.1:p.Tyr525His" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825506878", "coordinates": [ { "allele": "C", "end": 1915, "referenceAllele": "T", "start": 1914 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.1573T>C" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Tyr525His", "hgvsWellDefined": "NP_001077074.1:p.Tyr525His" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825509874", "coordinates": [ { "allele": "C", "end": 2014, "referenceAllele": "T", "start": 2013 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.1573T>C" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Tyr525His", "hgvsWellDefined": "NP_001077075.1:p.Tyr525His" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825512742", "coordinates": [ { "allele": "C", "end": 2088, "referenceAllele": "T", "start": 2087 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.1573T>C" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Tyr525His", "hgvsWellDefined": "NP_001077076.1:p.Tyr525His" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "G", "end": 913, "referenceAllele": "A", "start": 912 } ], "hgvs": [ "NR_038982.1:n.913A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS050659" }, { "coordinates": [ { "allele": "C", "end": 1772, "referenceAllele": "T", "start": 1771 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.1573T>C" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Tyr525His", "hgvsWellDefined": "XP_005252159.1:p.Tyr525His" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "C", "end": 2070, "referenceAllele": "T", "start": 2069 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.1870T>C" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Tyr624His", "hgvsWellDefined": "XP_011517170.1:p.Tyr624His" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "C", "end": 1721, "referenceAllele": "T", "start": 1720 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.1573T>C" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Tyr525His", "hgvsWellDefined": "XP_011517171.1:p.Tyr525His" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "C", "end": 1709, "referenceAllele": "T", "start": 1708 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.1573T>C" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Tyr525His", "hgvsWellDefined": "XP_011517172.1:p.Tyr525His" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "C", "end": 1696, "referenceAllele": "T", "start": 1695 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.1573T>C" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Tyr525His", "hgvsWellDefined": "XP_011517173.1:p.Tyr525His" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "C", "end": 1679, "referenceAllele": "T", "start": 1678 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.1573T>C" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Tyr525His", "hgvsWellDefined": "XP_011517174.1:p.Tyr525His" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "C", "end": 1473, "referenceAllele": "T", "start": 1472 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.1186T>C" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Tyr396His", "hgvsWellDefined": "XP_011517175.1:p.Tyr396His" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "C", "end": 2226, "referenceAllele": "T", "start": 2225 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.2026T>C" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Tyr676His", "hgvsWellDefined": "XP_011517176.1:p.Tyr676His" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA2580108402", "coordinates": [ { "allele": "C", "end": 2214, "referenceAllele": "T", "start": 2213 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.2026T>C" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Tyr676His", "hgvsWellDefined": "NP_000255.2:p.Tyr676His" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825488910", "coordinates": [ { "allele": "C", "end": 2414, "referenceAllele": "T", "start": 2413 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.1828T>C" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Tyr610His", "hgvsWellDefined": "NP_001077071.1:p.Tyr610His" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825494979", "coordinates": [ { "allele": "C", "end": 2168, "referenceAllele": "T", "start": 2167 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.2023T>C" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Tyr675His", "hgvsWellDefined": "NP_001077072.1:p.Tyr675His" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825502166", "coordinates": [ { "allele": "C", "end": 1932, "referenceAllele": "T", "start": 1931 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.1573T>C" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Tyr525His", "hgvsWellDefined": "NP_001077073.1:p.Tyr525His" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825506878", "coordinates": [ { "allele": "C", "end": 1915, "referenceAllele": "T", "start": 1914 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.1573T>C" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Tyr525His", "hgvsWellDefined": "NP_001077074.1:p.Tyr525His" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825509874", "coordinates": [ { "allele": "C", "end": 2014, "referenceAllele": "T", "start": 2013 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.1573T>C" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Tyr525His", "hgvsWellDefined": "NP_001077075.1:p.Tyr525His" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825512742", "coordinates": [ { "allele": "C", "end": 2088, "referenceAllele": "T", "start": 2087 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.1573T>C" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Tyr525His", "hgvsWellDefined": "NP_001077076.1:p.Tyr525His" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828032994", "coordinates": [ { "allele": "C", "end": 2058, "referenceAllele": "T", "start": 2057 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.1870T>C" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Tyr624His", "hgvsWellDefined": "NP_001341847.1:p.Tyr624His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "C", "end": 2214, "referenceAllele": "T", "start": 2213 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.2214T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA2580108402", "coordinates": [ { "allele": "C", "end": 2931, "referenceAllele": "T", "start": 2930 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.2026T>C" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Tyr676His", "hgvsWellDefined": "NP_000255.2:p.Tyr676His" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2026T>C" }, "RefSeq": { "hgvs": "NM_000264.5:c.2026T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Tyr676His" }, "RefSeq": { "hgvs": "NP_000255.2:p.Tyr676His" } } } }, { "@id": "http://reg.genome.network/allele/PA2825509874", "coordinates": [ { "allele": "C", "end": 2024, "referenceAllele": "T", "start": 2023 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.1573T>C" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Tyr525His", "hgvsWellDefined": "NP_001077075.1:p.Tyr525His" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828032994", "coordinates": [ { "allele": "C", "end": 2775, "referenceAllele": "T", "start": 2774 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.1870T>C" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Tyr624His", "hgvsWellDefined": "NP_001341847.1:p.Tyr624His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "C", "end": 2931, "referenceAllele": "T", "start": 2930 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.2931T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825488910", "coordinates": [ { "allele": "C", "end": 2328, "referenceAllele": "T", "start": 2327 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.1828T>C" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Tyr610His", "hgvsWellDefined": "NP_001077071.1:p.Tyr610His" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825494979", "coordinates": [ { "allele": "C", "end": 2174, "referenceAllele": "T", "start": 2173 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.2023T>C" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Tyr675His", "hgvsWellDefined": "NP_001077072.1:p.Tyr675His" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.2023T>C" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2023T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Tyr675His" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Tyr675His" } } } }, { "@id": "http://reg.genome.network/allele/PA2825502166", "coordinates": [ { "allele": "C", "end": 1932, "referenceAllele": "T", "start": 1931 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.1573T>C" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Tyr525His", "hgvsWellDefined": "NP_001077073.1:p.Tyr525His" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825506878", "coordinates": [ { "allele": "C", "end": 1915, "referenceAllele": "T", "start": 1914 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.1573T>C" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Tyr525His", "hgvsWellDefined": "NP_001077074.1:p.Tyr525His" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825512742", "coordinates": [ { "allele": "C", "end": 2088, "referenceAllele": "T", "start": 2087 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.1573T>C" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Tyr525His", "hgvsWellDefined": "NP_001077076.1:p.Tyr525His" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }