{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374113774", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.2531G>C (p.Trp844Ser)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1291688[alleleid]", "alleleId": 1291688, "preferredName": "NM_000264.5(PTCH1):c.2531G>C (p.Trp844Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1301405", "RCV": [ "RCV001733427" ], "variationId": 1301405 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98229427C>G?assembly=hg19", "id": "chr9:g.98229427C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95467145C>G?assembly=hg38", "id": "chr9:g.95467145C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2117947811", "rs": 2117947811 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 95467145, "referenceAllele": "C", "start": 95467144 } ], "hgvs": [ "NC_000009.12:g.95467145C>G", "CM000671.2:g.95467145C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 98229427, "referenceAllele": "C", "start": 98229426 } ], "hgvs": [ "NC_000009.11:g.98229427C>G", "CM000671.1:g.98229427C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 97269248, "referenceAllele": "C", "start": 97269247 } ], "hgvs": [ "NC_000009.10:g.97269248C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "C", "end": 54821, "referenceAllele": "G", "start": 54820 } ], "hgvs": [ "NG_007664.1:g.54821G>C", "LRG_515:g.54821G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 2833, "referenceAllele": "G", "start": 2832 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.2333G>C" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Trp778Ser", "hgvsWellDefined": "ENSP00000518556.1:p.Trp778Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "C", "end": 2679, "referenceAllele": "G", "start": 2678 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.2528G>C" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Trp843Ser", "hgvsWellDefined": "ENSP00000389744.2:p.Trp843Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.2528G>C" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2528G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Trp843Ser" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Trp843Ser" } } } }, { "coordinates": [ { "allele": "C", "end": 2354, "referenceAllele": "G", "start": 2353 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*839G>C" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*839G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "C", "end": 2219, "referenceAllele": "G", "start": 2218 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.2078G>C" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Trp693Ser", "hgvsWellDefined": "ENSP00000510238.1:p.Trp693Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "C", "end": 3436, "referenceAllele": "G", "start": 3435 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.2531G>C" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Trp844Ser", "hgvsWellDefined": "ENSP00000332353.6:p.Trp844Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2531G>C" }, "RefSeq": { "hgvs": "NM_000264.5:c.2531G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Trp844Ser" }, "RefSeq": { "hgvs": "NP_000255.2:p.Trp844Ser" } } } }, { "coordinates": [ { "allele": "C", "end": 2831, "referenceAllele": "G", "start": 2830 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.2531G>C" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Trp844Ser", "hgvsWellDefined": "ENSP00000332353.6:p.Trp844Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "C", "end": 2673, "referenceAllele": "G", "start": 2672 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.2528G>C" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Trp843Ser", "hgvsWellDefined": "ENSP00000364423.2:p.Trp843Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "C", "end": 2300, "referenceAllele": "G", "start": 2299 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.2300G>C" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.2300G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "C", "end": 2593, "referenceAllele": "G", "start": 2592 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.2078G>C" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Trp693Ser", "hgvsWellDefined": "ENSP00000396135.1:p.Trp693Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "C", "end": 2437, "referenceAllele": "G", "start": 2436 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.2078G>C" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Trp693Ser", "hgvsWellDefined": "ENSP00000399981.1:p.Trp693Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "C", "end": 2519, "referenceAllele": "G", "start": 2518 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.2078G>C" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Trp693Ser", "hgvsWellDefined": "ENSP00000414823.2:p.Trp693Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "C", "end": 2919, "referenceAllele": "G", "start": 2918 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.2333G>C" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Trp778Ser", "hgvsWellDefined": "ENSP00000410287.2:p.Trp778Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "C", "end": 2827, "referenceAllele": "G", "start": 2826 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.2333G>C" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Trp778Ser", "hgvsWellDefined": "ENSP00000389744.1:p.Trp778Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "@id": "http://reg.genome.network/allele/PA2573062125", "coordinates": [ { "allele": "C", "end": 2719, "referenceAllele": "G", "start": 2718 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.2531G>C", "LRG_515t1:c.2531G>C" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Trp844Ser", "hgvsWellDefined": "NP_000255.2:p.Trp844Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825489426", "coordinates": [ { "allele": "C", "end": 2827, "referenceAllele": "G", "start": 2826 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.2333G>C", "LRG_515t2:c.2333G>C" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Trp778Ser", "hgvsWellDefined": "NP_001077071.1:p.Trp778Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825495786", "coordinates": [ { "allele": "C", "end": 2673, "referenceAllele": "G", "start": 2672 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.2528G>C" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Trp843Ser", "hgvsWellDefined": "NP_001077072.1:p.Trp843Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825502982", "coordinates": [ { "allele": "C", "end": 2437, "referenceAllele": "G", "start": 2436 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.2078G>C" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Trp693Ser", "hgvsWellDefined": "NP_001077073.1:p.Trp693Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825507261", "coordinates": [ { "allele": "C", "end": 2420, "referenceAllele": "G", "start": 2419 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.2078G>C" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Trp693Ser", "hgvsWellDefined": "NP_001077074.1:p.Trp693Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825510258", "coordinates": [ { "allele": "C", "end": 2519, "referenceAllele": "G", "start": 2518 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.2078G>C" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Trp693Ser", "hgvsWellDefined": "NP_001077075.1:p.Trp693Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825513125", "coordinates": [ { "allele": "C", "end": 2593, "referenceAllele": "G", "start": 2592 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.2078G>C" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Trp693Ser", "hgvsWellDefined": "NP_001077076.1:p.Trp693Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "G", "end": 406, "referenceAllele": "C", "start": 405 } ], "hgvs": [ "NR_038982.1:n.406C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS050659" }, { "coordinates": [ { "allele": "C", "end": 2277, "referenceAllele": "G", "start": 2276 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.2078G>C" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Trp693Ser", "hgvsWellDefined": "XP_005252159.1:p.Trp693Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "C", "end": 2575, "referenceAllele": "G", "start": 2574 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.2375G>C" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Trp792Ser", "hgvsWellDefined": "XP_011517170.1:p.Trp792Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "C", "end": 2226, "referenceAllele": "G", "start": 2225 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.2078G>C" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Trp693Ser", "hgvsWellDefined": "XP_011517171.1:p.Trp693Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "C", "end": 2214, "referenceAllele": "G", "start": 2213 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.2078G>C" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Trp693Ser", "hgvsWellDefined": "XP_011517172.1:p.Trp693Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "C", "end": 2201, "referenceAllele": "G", "start": 2200 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.2078G>C" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Trp693Ser", "hgvsWellDefined": "XP_011517173.1:p.Trp693Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "C", "end": 2184, "referenceAllele": "G", "start": 2183 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.2078G>C" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Trp693Ser", "hgvsWellDefined": "XP_011517174.1:p.Trp693Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "C", "end": 1978, "referenceAllele": "G", "start": 1977 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.1691G>C" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Trp564Ser", "hgvsWellDefined": "XP_011517175.1:p.Trp564Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "C", "end": 2731, "referenceAllele": "G", "start": 2730 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.2531G>C" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Trp844Ser", "hgvsWellDefined": "XP_011517176.1:p.Trp844Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA2573062125", "coordinates": [ { "allele": "C", "end": 2719, "referenceAllele": "G", "start": 2718 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.2531G>C" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Trp844Ser", "hgvsWellDefined": "NP_000255.2:p.Trp844Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825489426", "coordinates": [ { "allele": "C", "end": 2919, "referenceAllele": "G", "start": 2918 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.2333G>C" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Trp778Ser", "hgvsWellDefined": "NP_001077071.1:p.Trp778Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825495786", "coordinates": [ { "allele": "C", "end": 2673, "referenceAllele": "G", "start": 2672 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.2528G>C" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Trp843Ser", "hgvsWellDefined": "NP_001077072.1:p.Trp843Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825502982", "coordinates": [ { "allele": "C", "end": 2437, "referenceAllele": "G", "start": 2436 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.2078G>C" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Trp693Ser", "hgvsWellDefined": "NP_001077073.1:p.Trp693Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825507261", "coordinates": [ { "allele": "C", "end": 2420, "referenceAllele": "G", "start": 2419 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.2078G>C" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Trp693Ser", "hgvsWellDefined": "NP_001077074.1:p.Trp693Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825510258", "coordinates": [ { "allele": "C", "end": 2519, "referenceAllele": "G", "start": 2518 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.2078G>C" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Trp693Ser", "hgvsWellDefined": "NP_001077075.1:p.Trp693Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825513125", "coordinates": [ { "allele": "C", "end": 2593, "referenceAllele": "G", "start": 2592 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.2078G>C" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Trp693Ser", "hgvsWellDefined": "NP_001077076.1:p.Trp693Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828033546", "coordinates": [ { "allele": "C", "end": 2563, "referenceAllele": "G", "start": 2562 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.2375G>C" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Trp792Ser", "hgvsWellDefined": "NP_001341847.1:p.Trp792Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "C", "end": 2553, "referenceAllele": "G", "start": 2552 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.2553G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA2573062125", "coordinates": [ { "allele": "C", "end": 3436, "referenceAllele": "G", "start": 3435 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.2531G>C" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Trp844Ser", "hgvsWellDefined": "NP_000255.2:p.Trp844Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2531G>C" }, "RefSeq": { "hgvs": "NM_000264.5:c.2531G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Trp844Ser" }, "RefSeq": { "hgvs": "NP_000255.2:p.Trp844Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA2825510258", "coordinates": [ { "allele": "C", "end": 2529, "referenceAllele": "G", "start": 2528 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.2078G>C" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Trp693Ser", "hgvsWellDefined": "NP_001077075.1:p.Trp693Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828033546", "coordinates": [ { "allele": "C", "end": 3280, "referenceAllele": "G", "start": 3279 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.2375G>C" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Trp792Ser", "hgvsWellDefined": "NP_001341847.1:p.Trp792Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "C", "end": 3270, "referenceAllele": "G", "start": 3269 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.3270G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825489426", "coordinates": [ { "allele": "C", "end": 2833, "referenceAllele": "G", "start": 2832 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.2333G>C" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Trp778Ser", "hgvsWellDefined": "NP_001077071.1:p.Trp778Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825495786", "coordinates": [ { "allele": "C", "end": 2679, "referenceAllele": "G", "start": 2678 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.2528G>C" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Trp843Ser", "hgvsWellDefined": "NP_001077072.1:p.Trp843Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.2528G>C" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2528G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Trp843Ser" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Trp843Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA2825502982", "coordinates": [ { "allele": "C", "end": 2437, "referenceAllele": "G", "start": 2436 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.2078G>C" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Trp693Ser", "hgvsWellDefined": "NP_001077073.1:p.Trp693Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825507261", "coordinates": [ { "allele": "C", "end": 2420, "referenceAllele": "G", "start": 2419 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.2078G>C" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Trp693Ser", "hgvsWellDefined": "NP_001077074.1:p.Trp693Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825513125", "coordinates": [ { "allele": "C", "end": 2593, "referenceAllele": "G", "start": 2592 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.2078G>C" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Trp693Ser", "hgvsWellDefined": "NP_001077076.1:p.Trp693Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }