{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374118339", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.1511C>T (p.Pro504Leu)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5908936", "active": true, "id": "COSM5908936" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5908937", "active": true, "id": "COSM5908937" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5908938", "active": true, "id": "COSM5908938" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5908939", "active": true, "id": "COSM5908939" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1827322[alleleid]", "alleleId": 1827322, "preferredName": "NM_000264.5(PTCH1):c.1511C>T (p.Pro504Leu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1774216", "RCV": [ "RCV002392218" ], "variationId": 1774216 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98239132G>A?assembly=hg19", "id": "chr9:g.98239132G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95476850G>A?assembly=hg38", "id": "chr9:g.95476850G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1588598694", "rs": 1588598694 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 95476850, "referenceAllele": "G", "start": 95476849 } ], "hgvs": [ "NC_000009.12:g.95476850G>A", "CM000671.2:g.95476850G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 98239132, "referenceAllele": "G", "start": 98239131 } ], "hgvs": [ "NC_000009.11:g.98239132G>A", "CM000671.1:g.98239132G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 97278953, "referenceAllele": "G", "start": 97278952 } ], "hgvs": [ "NC_000009.10:g.97278953G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 45116, "referenceAllele": "C", "start": 45115 } ], "hgvs": [ "NG_007664.1:g.45116C>T", "LRG_515:g.45116C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1813, "referenceAllele": "C", "start": 1812 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.1313C>T" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Pro438Leu", "hgvsWellDefined": "ENSP00000518556.1:p.Pro438Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "T", "end": 1659, "referenceAllele": "C", "start": 1658 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.1508C>T" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Pro503Leu", "hgvsWellDefined": "ENSP00000389744.2:p.Pro503Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1508C>T" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1508C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Pro503Leu" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Pro503Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 1202, "referenceAllele": "C", "start": 1201 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.1058C>T" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:p.Pro353Leu", "hgvsWellDefined": "ENSP00000509379.1:p.Pro353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "T", "end": 1199, "referenceAllele": "C", "start": 1198 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.1058C>T" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Pro353Leu", "hgvsWellDefined": "ENSP00000510238.1:p.Pro353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "T", "end": 2416, "referenceAllele": "C", "start": 2415 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.1511C>T" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Pro504Leu", "hgvsWellDefined": "ENSP00000332353.6:p.Pro504Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1511C>T" }, "RefSeq": { "hgvs": "NM_000264.5:c.1511C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Pro504Leu" }, "RefSeq": { "hgvs": "NP_000255.2:p.Pro504Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 1811, "referenceAllele": "C", "start": 1810 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.1511C>T" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Pro504Leu", "hgvsWellDefined": "ENSP00000332353.6:p.Pro504Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "T", "end": 506, "referenceAllele": "C", "start": 505 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375271.4:c.506C>T" ], "proteinEffect": { "hgvs": "ENSP00000364420.4:p.Pro169Leu", "hgvsWellDefined": "ENSP00000364420.4:p.Pro169Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS270639" }, { "coordinates": [ { "allele": "T", "end": 1653, "referenceAllele": "C", "start": 1652 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.1508C>T" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Pro503Leu", "hgvsWellDefined": "ENSP00000364423.2:p.Pro503Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "T", "end": 1148, "referenceAllele": "C", "start": 1147 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.1148C>T" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:p.Pro383Leu", "hgvsWellDefined": "ENSP00000364439.2:p.Pro383Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "T", "end": 1573, "referenceAllele": "C", "start": 1572 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.1058C>T" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Pro353Leu", "hgvsWellDefined": "ENSP00000396135.1:p.Pro353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "T", "end": 1417, "referenceAllele": "C", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.1058C>T" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Pro353Leu", "hgvsWellDefined": "ENSP00000399981.1:p.Pro353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "T", "end": 1499, "referenceAllele": "C", "start": 1498 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.1058C>T" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Pro353Leu", "hgvsWellDefined": "ENSP00000414823.2:p.Pro353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "T", "end": 1899, "referenceAllele": "C", "start": 1898 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.1313C>T" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Pro438Leu", "hgvsWellDefined": "ENSP00000410287.2:p.Pro438Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "T", "end": 1807, "referenceAllele": "C", "start": 1806 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.1313C>T" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Pro438Leu", "hgvsWellDefined": "ENSP00000389744.1:p.Pro438Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "@id": "http://reg.genome.network/allele/PA2580108060", "coordinates": [ { "allele": "T", "end": 1699, "referenceAllele": "C", "start": 1698 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.1511C>T", "LRG_515t1:c.1511C>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Pro504Leu", "hgvsWellDefined": "NP_000255.2:p.Pro504Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825488569", "coordinates": [ { "allele": "T", "end": 1807, "referenceAllele": "C", "start": 1806 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.1313C>T", "LRG_515t2:c.1313C>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Pro438Leu", "hgvsWellDefined": "NP_001077071.1:p.Pro438Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825494052", "coordinates": [ { "allele": "T", "end": 1653, "referenceAllele": "C", "start": 1652 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.1508C>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Pro503Leu", "hgvsWellDefined": "NP_001077072.1:p.Pro503Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825501244", "coordinates": [ { "allele": "T", "end": 1417, "referenceAllele": "C", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.1058C>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Pro353Leu", "hgvsWellDefined": "NP_001077073.1:p.Pro353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825506505", "coordinates": [ { "allele": "T", "end": 1400, "referenceAllele": "C", "start": 1399 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.1058C>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Pro353Leu", "hgvsWellDefined": "NP_001077074.1:p.Pro353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825509502", "coordinates": [ { "allele": "T", "end": 1499, "referenceAllele": "C", "start": 1498 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.1058C>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Pro353Leu", "hgvsWellDefined": "NP_001077075.1:p.Pro353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825512368", "coordinates": [ { "allele": "T", "end": 1573, "referenceAllele": "C", "start": 1572 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.1058C>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Pro353Leu", "hgvsWellDefined": "NP_001077076.1:p.Pro353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "T", "end": 1257, "referenceAllele": "C", "start": 1256 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.1058C>T" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Pro353Leu", "hgvsWellDefined": "XP_005252159.1:p.Pro353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "T", "end": 1555, "referenceAllele": "C", "start": 1554 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.1355C>T" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Pro452Leu", "hgvsWellDefined": "XP_011517170.1:p.Pro452Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "T", "end": 1206, "referenceAllele": "C", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.1058C>T" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Pro353Leu", "hgvsWellDefined": "XP_011517171.1:p.Pro353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "T", "end": 1194, "referenceAllele": "C", "start": 1193 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.1058C>T" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Pro353Leu", "hgvsWellDefined": "XP_011517172.1:p.Pro353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "T", "end": 1181, "referenceAllele": "C", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.1058C>T" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Pro353Leu", "hgvsWellDefined": "XP_011517173.1:p.Pro353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "T", "end": 1164, "referenceAllele": "C", "start": 1163 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.1058C>T" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Pro353Leu", "hgvsWellDefined": "XP_011517174.1:p.Pro353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "T", "end": 958, "referenceAllele": "C", "start": 957 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.671C>T" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Pro224Leu", "hgvsWellDefined": "XP_011517175.1:p.Pro224Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "T", "end": 1711, "referenceAllele": "C", "start": 1710 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.1511C>T" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Pro504Leu", "hgvsWellDefined": "XP_011517176.1:p.Pro504Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA2580108060", "coordinates": [ { "allele": "T", "end": 1699, "referenceAllele": "C", "start": 1698 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.1511C>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Pro504Leu", "hgvsWellDefined": "NP_000255.2:p.Pro504Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825488569", "coordinates": [ { "allele": "T", "end": 1899, "referenceAllele": "C", "start": 1898 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.1313C>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Pro438Leu", "hgvsWellDefined": "NP_001077071.1:p.Pro438Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825494052", "coordinates": [ { "allele": "T", "end": 1653, "referenceAllele": "C", "start": 1652 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.1508C>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Pro503Leu", "hgvsWellDefined": "NP_001077072.1:p.Pro503Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825501244", "coordinates": [ { "allele": "T", "end": 1417, "referenceAllele": "C", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.1058C>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Pro353Leu", "hgvsWellDefined": "NP_001077073.1:p.Pro353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825506505", "coordinates": [ { "allele": "T", "end": 1400, "referenceAllele": "C", "start": 1399 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.1058C>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Pro353Leu", "hgvsWellDefined": "NP_001077074.1:p.Pro353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825509502", "coordinates": [ { "allele": "T", "end": 1499, "referenceAllele": "C", "start": 1498 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.1058C>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Pro353Leu", "hgvsWellDefined": "NP_001077075.1:p.Pro353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825512368", "coordinates": [ { "allele": "T", "end": 1573, "referenceAllele": "C", "start": 1572 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.1058C>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Pro353Leu", "hgvsWellDefined": "NP_001077076.1:p.Pro353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828032348", "coordinates": [ { "allele": "T", "end": 1543, "referenceAllele": "C", "start": 1542 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.1355C>T" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Pro452Leu", "hgvsWellDefined": "NP_001341847.1:p.Pro452Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "T", "end": 1699, "referenceAllele": "C", "start": 1698 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.1699C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA2580108060", "coordinates": [ { "allele": "T", "end": 2416, "referenceAllele": "C", "start": 2415 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.1511C>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Pro504Leu", "hgvsWellDefined": "NP_000255.2:p.Pro504Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1511C>T" }, "RefSeq": { "hgvs": "NM_000264.5:c.1511C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Pro504Leu" }, "RefSeq": { "hgvs": "NP_000255.2:p.Pro504Leu" } } } }, { "@id": "http://reg.genome.network/allele/PA2825509502", "coordinates": [ { "allele": "T", "end": 1509, "referenceAllele": "C", "start": 1508 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.1058C>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Pro353Leu", "hgvsWellDefined": "NP_001077075.1:p.Pro353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828032348", "coordinates": [ { "allele": "T", "end": 2260, "referenceAllele": "C", "start": 2259 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.1355C>T" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Pro452Leu", "hgvsWellDefined": "NP_001341847.1:p.Pro452Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "T", "end": 2416, "referenceAllele": "C", "start": 2415 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.2416C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825488569", "coordinates": [ { "allele": "T", "end": 1813, "referenceAllele": "C", "start": 1812 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.1313C>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Pro438Leu", "hgvsWellDefined": "NP_001077071.1:p.Pro438Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825494052", "coordinates": [ { "allele": "T", "end": 1659, "referenceAllele": "C", "start": 1658 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.1508C>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Pro503Leu", "hgvsWellDefined": "NP_001077072.1:p.Pro503Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1508C>T" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1508C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Pro503Leu" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Pro503Leu" } } } }, { "@id": "http://reg.genome.network/allele/PA2825501244", "coordinates": [ { "allele": "T", "end": 1417, "referenceAllele": "C", "start": 1416 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.1058C>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Pro353Leu", "hgvsWellDefined": "NP_001077073.1:p.Pro353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825506505", "coordinates": [ { "allele": "T", "end": 1400, "referenceAllele": "C", "start": 1399 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.1058C>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Pro353Leu", "hgvsWellDefined": "NP_001077074.1:p.Pro353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825512368", "coordinates": [ { "allele": "T", "end": 1573, "referenceAllele": "C", "start": 1572 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.1058C>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Pro353Leu", "hgvsWellDefined": "NP_001077076.1:p.Pro353Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }