{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA466111908", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.2739C>A (p.Ile913=)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=459802[alleleid]", "alleleId": 459802, "preferredName": "NM_000264.5(PTCH1):c.2739C>A (p.Ile913=)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/453830", "RCV": [ "RCV000551079", "RCV002438265" ], "variationId": 453830 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98222030G>T?assembly=hg19", "id": "chr9:g.98222030G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95459748G>T?assembly=hg38", "id": "chr9:g.95459748G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1305314328", "rs": 1305314328 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98222030-G-T?dataset=gnomad_r2_1", "id": "9-98222030-G-T", "variant": "9:98222030 G / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95459748-G-T?dataset=gnomad_r3", "id": "9-95459748-G-T", "variant": "9:95459748 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95459748-G-T?dataset=gnomad_r4", "id": "9-95459748-G-T", "variant": "9:95459748 G / T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 95459748, "referenceAllele": "G", "start": 95459747 } ], "hgvs": [ "NC_000009.12:g.95459748G>T", "CM000671.2:g.95459748G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 98222030, "referenceAllele": "G", "start": 98222029 } ], "hgvs": [ "NC_000009.11:g.98222030G>T", "CM000671.1:g.98222030G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 97261851, "referenceAllele": "G", "start": 97261850 } ], "hgvs": [ "NC_000009.10:g.97261851G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 62218, "referenceAllele": "C", "start": 62217 } ], "hgvs": [ "NG_007664.1:g.62218C>A", "LRG_515:g.62218C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3041, "referenceAllele": "C", "start": 3040 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.2541C>A" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Ile847=" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "A", "end": 2887, "referenceAllele": "C", "start": 2886 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.2736C>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Ile912=" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.2736C>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2736C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Ile912=" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Ile912=" } } } }, { "coordinates": [ { "allele": "A", "end": 2562, "referenceAllele": "C", "start": 2561 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*1047C>A" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*1047C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "A", "end": 2427, "referenceAllele": "C", "start": 2426 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.2286C>A" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Ile762=" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "A", "end": 70, "referenceAllele": "C", "start": 69 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000693534.1:n.70C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS834291" }, { "coordinates": [ { "allele": "A", "end": 3644, "referenceAllele": "C", "start": 3643 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.2739C>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Ile913=" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2739C>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.2739C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Ile913=" }, "RefSeq": { "hgvs": "NP_000255.2:p.Ile913=" } } } }, { "coordinates": [ { "allele": "A", "end": 3039, "referenceAllele": "C", "start": 3038 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.2739C>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Ile913=" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "A", "end": 2881, "referenceAllele": "C", "start": 2880 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.2736C>A" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Ile912=" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "A", "end": 2508, "referenceAllele": "C", "start": 2507 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.2508C>A" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.2508C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "A", "end": 2801, "referenceAllele": "C", "start": 2800 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.2286C>A" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Ile762=" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "A", "end": 2645, "referenceAllele": "C", "start": 2644 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.2286C>A" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Ile762=" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "A", "end": 2727, "referenceAllele": "C", "start": 2726 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.2286C>A" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Ile762=" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "A", "end": 3127, "referenceAllele": "C", "start": 3126 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.2541C>A" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Ile847=" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "A", "end": 3035, "referenceAllele": "C", "start": 3034 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.2541C>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Ile847=" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "A", "end": 89, "referenceAllele": "C", "start": 88 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000547615.1:n.89C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS366385" }, { "@id": "http://reg.genome.network/allele/PA2825121391", "coordinates": [ { "allele": "A", "end": 2927, "referenceAllele": "C", "start": 2926 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.2739C>A", "LRG_515t1:c.2739C>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ile913=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825489623", "coordinates": [ { "allele": "A", "end": 3035, "referenceAllele": "C", "start": 3034 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.2541C>A", "LRG_515t2:c.2541C>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ile847=" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825496110", "coordinates": [ { "allele": "A", "end": 2881, "referenceAllele": "C", "start": 2880 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.2736C>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ile912=" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825503266", "coordinates": [ { "allele": "A", "end": 2645, "referenceAllele": "C", "start": 2644 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.2286C>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ile762=" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825507389", "coordinates": [ { "allele": "A", "end": 2628, "referenceAllele": "C", "start": 2627 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.2286C>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ile762=" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825510386", "coordinates": [ { "allele": "A", "end": 2727, "referenceAllele": "C", "start": 2726 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.2286C>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ile762=" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825513253", "coordinates": [ { "allele": "A", "end": 2801, "referenceAllele": "C", "start": 2800 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.2286C>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ile762=" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "A", "end": 2485, "referenceAllele": "C", "start": 2484 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.2286C>A" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Ile762=" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "A", "end": 2783, "referenceAllele": "C", "start": 2782 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.2583C>A" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Ile861=" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "A", "end": 2434, "referenceAllele": "C", "start": 2433 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.2286C>A" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Ile762=" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "A", "end": 2422, "referenceAllele": "C", "start": 2421 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.2286C>A" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Ile762=" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "A", "end": 2409, "referenceAllele": "C", "start": 2408 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.2286C>A" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Ile762=" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "A", "end": 2392, "referenceAllele": "C", "start": 2391 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.2286C>A" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Ile762=" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "A", "end": 2186, "referenceAllele": "C", "start": 2185 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.1899C>A" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Ile633=" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "A", "end": 2939, "referenceAllele": "C", "start": 2938 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.2739C>A" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Ile913=" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA2825121391", "coordinates": [ { "allele": "A", "end": 2927, "referenceAllele": "C", "start": 2926 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.2739C>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ile913=" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825489623", "coordinates": [ { "allele": "A", "end": 3127, "referenceAllele": "C", "start": 3126 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.2541C>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ile847=" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825496110", "coordinates": [ { "allele": "A", "end": 2881, "referenceAllele": "C", "start": 2880 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.2736C>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ile912=" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825503266", "coordinates": [ { "allele": "A", "end": 2645, "referenceAllele": "C", "start": 2644 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.2286C>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ile762=" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825507389", "coordinates": [ { "allele": "A", "end": 2628, "referenceAllele": "C", "start": 2627 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.2286C>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ile762=" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825510386", "coordinates": [ { "allele": "A", "end": 2727, "referenceAllele": "C", "start": 2726 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.2286C>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ile762=" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825513253", "coordinates": [ { "allele": "A", "end": 2801, "referenceAllele": "C", "start": 2800 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.2286C>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ile762=" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828033753", "coordinates": [ { "allele": "A", "end": 2771, "referenceAllele": "C", "start": 2770 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.2583C>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Ile861=" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "A", "end": 2761, "referenceAllele": "C", "start": 2760 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.2761C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA2825121391", "coordinates": [ { "allele": "A", "end": 3644, "referenceAllele": "C", "start": 3643 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.2739C>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ile913=" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2739C>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.2739C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Ile913=" }, "RefSeq": { "hgvs": "NP_000255.2:p.Ile913=" } } } }, { "@id": "http://reg.genome.network/allele/PA2825510386", "coordinates": [ { "allele": "A", "end": 2737, "referenceAllele": "C", "start": 2736 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.2286C>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ile762=" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828033753", "coordinates": [ { "allele": "A", "end": 3488, "referenceAllele": "C", "start": 3487 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.2583C>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Ile861=" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "A", "end": 3478, "referenceAllele": "C", "start": 3477 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.3478C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825489623", "coordinates": [ { "allele": "A", "end": 3041, "referenceAllele": "C", "start": 3040 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.2541C>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ile847=" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825496110", "coordinates": [ { "allele": "A", "end": 2887, "referenceAllele": "C", "start": 2886 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.2736C>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ile912=" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.2736C>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2736C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Ile912=" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Ile912=" } } } }, { "@id": "http://reg.genome.network/allele/PA2825503266", "coordinates": [ { "allele": "A", "end": 2645, "referenceAllele": "C", "start": 2644 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.2286C>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ile762=" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825507389", "coordinates": [ { "allele": "A", "end": 2628, "referenceAllele": "C", "start": 2627 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.2286C>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ile762=" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825513253", "coordinates": [ { "allele": "A", "end": 2801, "referenceAllele": "C", "start": 2800 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.2286C>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ile762=" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }