{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10582681", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.2303C>T (p.Thr768Ile)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=240673[alleleid]", "alleleId": 240673, "preferredName": "NM_000264.5(PTCH1):c.2303C>T (p.Thr768Ile)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/237469", "RCV": [ "RCV000233705", "RCV001015015" ], "variationId": 237469 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98229655G>A?assembly=hg19", "id": "chr9:g.98229655G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95467373G>A?assembly=hg38", "id": "chr9:g.95467373G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/878853850", "rs": 878853850 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98229655-G-A?dataset=gnomad_r2_1", "id": "9-98229655-G-A", "variant": "9:98229655 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95467373-G-A?dataset=gnomad_r4", "id": "9-95467373-G-A", "variant": "9:95467373 G / A" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 95467373, "referenceAllele": "G", "start": 95467372 } ], "hgvs": [ "NC_000009.12:g.95467373G>A", "CM000671.2:g.95467373G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 98229655, "referenceAllele": "G", "start": 98229654 } ], "hgvs": [ "NC_000009.11:g.98229655G>A", "CM000671.1:g.98229655G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 97269476, "referenceAllele": "G", "start": 97269475 } ], "hgvs": [ "NC_000009.10:g.97269476G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 54593, "referenceAllele": "C", "start": 54592 } ], "hgvs": [ "NG_007664.1:g.54593C>T", "LRG_515:g.54593C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2605, "referenceAllele": "C", "start": 2604 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.2105C>T" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Thr702Ile", "hgvsWellDefined": "ENSP00000518556.1:p.Thr702Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "T", "end": 2451, "referenceAllele": "C", "start": 2450 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.2300C>T" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Thr767Ile", "hgvsWellDefined": "ENSP00000389744.2:p.Thr767Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.2300C>T" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2300C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Thr767Ile" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Thr767Ile" } } } }, { "coordinates": [ { "allele": "T", "end": 2126, "referenceAllele": "C", "start": 2125 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*611C>T" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*611C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "T", "end": 1991, "referenceAllele": "C", "start": 1990 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.1850C>T" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Thr617Ile", "hgvsWellDefined": "ENSP00000510238.1:p.Thr617Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "T", "end": 3208, "referenceAllele": "C", "start": 3207 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.2303C>T" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Thr768Ile", "hgvsWellDefined": "ENSP00000332353.6:p.Thr768Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2303C>T" }, "RefSeq": { "hgvs": "NM_000264.5:c.2303C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Thr768Ile" }, "RefSeq": { "hgvs": "NP_000255.2:p.Thr768Ile" } } } }, { "coordinates": [ { "allele": "T", "end": 2603, "referenceAllele": "C", "start": 2602 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.2303C>T" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Thr768Ile", "hgvsWellDefined": "ENSP00000332353.6:p.Thr768Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "T", "end": 2445, "referenceAllele": "C", "start": 2444 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.2300C>T" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Thr767Ile", "hgvsWellDefined": "ENSP00000364423.2:p.Thr767Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "T", "end": 2072, "referenceAllele": "C", "start": 2071 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.2072C>T" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.2072C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "T", "end": 2365, "referenceAllele": "C", "start": 2364 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.1850C>T" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Thr617Ile", "hgvsWellDefined": "ENSP00000396135.1:p.Thr617Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "T", "end": 2209, "referenceAllele": "C", "start": 2208 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.1850C>T" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Thr617Ile", "hgvsWellDefined": "ENSP00000399981.1:p.Thr617Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "T", "end": 2291, "referenceAllele": "C", "start": 2290 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.1850C>T" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Thr617Ile", "hgvsWellDefined": "ENSP00000414823.2:p.Thr617Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "T", "end": 2691, "referenceAllele": "C", "start": 2690 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.2105C>T" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Thr702Ile", "hgvsWellDefined": "ENSP00000410287.2:p.Thr702Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "T", "end": 2599, "referenceAllele": "C", "start": 2598 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.2105C>T" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Thr702Ile", "hgvsWellDefined": "ENSP00000389744.1:p.Thr702Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "T", "end": 492, "referenceAllele": "C", "start": 491 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000549678.1:n.492C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS367610" }, { "@id": "http://reg.genome.network/allele/PA645506210", "coordinates": [ { "allele": "T", "end": 2491, "referenceAllele": "C", "start": 2490 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.2303C>T", "LRG_515t1:c.2303C>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Thr768Ile", "hgvsWellDefined": "NP_000255.2:p.Thr768Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825489146", "coordinates": [ { "allele": "T", "end": 2599, "referenceAllele": "C", "start": 2598 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.2105C>T", "LRG_515t2:c.2105C>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Thr702Ile", "hgvsWellDefined": "NP_001077071.1:p.Thr702Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825495480", "coordinates": [ { "allele": "T", "end": 2445, "referenceAllele": "C", "start": 2444 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.2300C>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Thr767Ile", "hgvsWellDefined": "NP_001077072.1:p.Thr767Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825502625", "coordinates": [ { "allele": "T", "end": 2209, "referenceAllele": "C", "start": 2208 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.1850C>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Thr617Ile", "hgvsWellDefined": "NP_001077073.1:p.Thr617Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825507095", "coordinates": [ { "allele": "T", "end": 2192, "referenceAllele": "C", "start": 2191 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.1850C>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Thr617Ile", "hgvsWellDefined": "NP_001077074.1:p.Thr617Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825510092", "coordinates": [ { "allele": "T", "end": 2291, "referenceAllele": "C", "start": 2290 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.1850C>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Thr617Ile", "hgvsWellDefined": "NP_001077075.1:p.Thr617Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825512959", "coordinates": [ { "allele": "T", "end": 2365, "referenceAllele": "C", "start": 2364 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.1850C>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Thr617Ile", "hgvsWellDefined": "NP_001077076.1:p.Thr617Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "A", "end": 523, "referenceAllele": "G", "start": 522 } ], "hgvs": [ "NR_038982.1:n.523G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS050659" }, { "coordinates": [ { "allele": "T", "end": 2049, "referenceAllele": "C", "start": 2048 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.1850C>T" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Thr617Ile", "hgvsWellDefined": "XP_005252159.1:p.Thr617Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "T", "end": 2347, "referenceAllele": "C", "start": 2346 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.2147C>T" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Thr716Ile", "hgvsWellDefined": "XP_011517170.1:p.Thr716Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "T", "end": 1998, "referenceAllele": "C", "start": 1997 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.1850C>T" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Thr617Ile", "hgvsWellDefined": "XP_011517171.1:p.Thr617Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "T", "end": 1986, "referenceAllele": "C", "start": 1985 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.1850C>T" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Thr617Ile", "hgvsWellDefined": "XP_011517172.1:p.Thr617Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "T", "end": 1973, "referenceAllele": "C", "start": 1972 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.1850C>T" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Thr617Ile", "hgvsWellDefined": "XP_011517173.1:p.Thr617Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "T", "end": 1956, "referenceAllele": "C", "start": 1955 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.1850C>T" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Thr617Ile", "hgvsWellDefined": "XP_011517174.1:p.Thr617Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "T", "end": 1750, "referenceAllele": "C", "start": 1749 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.1463C>T" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Thr488Ile", "hgvsWellDefined": "XP_011517175.1:p.Thr488Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "T", "end": 2503, "referenceAllele": "C", "start": 2502 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.2303C>T" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Thr768Ile", "hgvsWellDefined": "XP_011517176.1:p.Thr768Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA645506210", "coordinates": [ { "allele": "T", "end": 2491, "referenceAllele": "C", "start": 2490 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.2303C>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Thr768Ile", "hgvsWellDefined": "NP_000255.2:p.Thr768Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825489146", "coordinates": [ { "allele": "T", "end": 2691, "referenceAllele": "C", "start": 2690 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.2105C>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Thr702Ile", "hgvsWellDefined": "NP_001077071.1:p.Thr702Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825495480", "coordinates": [ { "allele": "T", "end": 2445, "referenceAllele": "C", "start": 2444 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.2300C>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Thr767Ile", "hgvsWellDefined": "NP_001077072.1:p.Thr767Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825502625", "coordinates": [ { "allele": "T", "end": 2209, "referenceAllele": "C", "start": 2208 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.1850C>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Thr617Ile", "hgvsWellDefined": "NP_001077073.1:p.Thr617Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825507095", "coordinates": [ { "allele": "T", "end": 2192, "referenceAllele": "C", "start": 2191 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.1850C>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Thr617Ile", "hgvsWellDefined": "NP_001077074.1:p.Thr617Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825510092", "coordinates": [ { "allele": "T", "end": 2291, "referenceAllele": "C", "start": 2290 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.1850C>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Thr617Ile", "hgvsWellDefined": "NP_001077075.1:p.Thr617Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825512959", "coordinates": [ { "allele": "T", "end": 2365, "referenceAllele": "C", "start": 2364 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.1850C>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Thr617Ile", "hgvsWellDefined": "NP_001077076.1:p.Thr617Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828033303", "coordinates": [ { "allele": "T", "end": 2335, "referenceAllele": "C", "start": 2334 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.2147C>T" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Thr716Ile", "hgvsWellDefined": "NP_001341847.1:p.Thr716Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "T", "end": 2438, "endIntronDirection": "-", "endIntronOffset": 113, "referenceAllele": "C", "start": 2438, "startIntronDirection": "-", "startIntronOffset": 114 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.2439-114C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA645506210", "coordinates": [ { "allele": "T", "end": 3208, "referenceAllele": "C", "start": 3207 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.2303C>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Thr768Ile", "hgvsWellDefined": "NP_000255.2:p.Thr768Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2303C>T" }, "RefSeq": { "hgvs": "NM_000264.5:c.2303C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Thr768Ile" }, "RefSeq": { "hgvs": "NP_000255.2:p.Thr768Ile" } } } }, { "@id": "http://reg.genome.network/allele/PA2825510092", "coordinates": [ { "allele": "T", "end": 2301, "referenceAllele": "C", "start": 2300 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.1850C>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Thr617Ile", "hgvsWellDefined": "NP_001077075.1:p.Thr617Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828033303", "coordinates": [ { "allele": "T", "end": 3052, "referenceAllele": "C", "start": 3051 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.2147C>T" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Thr716Ile", "hgvsWellDefined": "NP_001341847.1:p.Thr716Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "T", "end": 3155, "endIntronDirection": "-", "endIntronOffset": 113, "referenceAllele": "C", "start": 3155, "startIntronDirection": "-", "startIntronOffset": 114 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.3156-114C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825489146", "coordinates": [ { "allele": "T", "end": 2605, "referenceAllele": "C", "start": 2604 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.2105C>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Thr702Ile", "hgvsWellDefined": "NP_001077071.1:p.Thr702Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825495480", "coordinates": [ { "allele": "T", "end": 2451, "referenceAllele": "C", "start": 2450 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.2300C>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Thr767Ile", "hgvsWellDefined": "NP_001077072.1:p.Thr767Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.2300C>T" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2300C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Thr767Ile" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Thr767Ile" } } } }, { "@id": "http://reg.genome.network/allele/PA2825502625", "coordinates": [ { "allele": "T", "end": 2209, "referenceAllele": "C", "start": 2208 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.1850C>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Thr617Ile", "hgvsWellDefined": "NP_001077073.1:p.Thr617Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825507095", "coordinates": [ { "allele": "T", "end": 2192, "referenceAllele": "C", "start": 2191 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.1850C>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Thr617Ile", "hgvsWellDefined": "NP_001077074.1:p.Thr617Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825512959", "coordinates": [ { "allele": "T", "end": 2365, "referenceAllele": "C", "start": 2364 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.1850C>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Thr617Ile", "hgvsWellDefined": "NP_001077076.1:p.Thr617Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }