{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5138362", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.2596G>A (p.Gly866Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=809570[alleleid]", "alleleId": 809570, "preferredName": "NM_000264.5(PTCH1):c.2596G>A (p.Gly866Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/821460", "RCV": [ "RCV001015896", "RCV001048280" ], "variationId": 821460 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-98224245-C-T", "id": "9-98224245-C-T", "variant": "9:98224245 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98224245C>T?assembly=hg19", "id": "chr9:g.98224245C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95461963C>T?assembly=hg38", "id": "chr9:g.95461963C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/765578315", "rs": 765578315 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98224245-C-T?dataset=gnomad_r2_1", "id": "9-98224245-C-T", "variant": "9:98224245 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95461963-C-T?dataset=gnomad_r3", "id": "9-95461963-C-T", "variant": "9:95461963 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95461963-C-T?dataset=gnomad_r4", "id": "9-95461963-C-T", "variant": "9:95461963 C / T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 95461963, "referenceAllele": "C", "start": 95461962 } ], "hgvs": [ "NC_000009.12:g.95461963C>T", "CM000671.2:g.95461963C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 98224245, "referenceAllele": "C", "start": 98224244 } ], "hgvs": [ "NC_000009.11:g.98224245C>T", "CM000671.1:g.98224245C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 97264066, "referenceAllele": "C", "start": 97264065 } ], "hgvs": [ "NC_000009.10:g.97264066C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 60003, "referenceAllele": "G", "start": 60002 } ], "hgvs": [ "NG_007664.1:g.60003G>A", "LRG_515:g.60003G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2898, "referenceAllele": "G", "start": 2897 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.2398G>A" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Gly800Arg", "hgvsWellDefined": "ENSP00000518556.1:p.Gly800Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "A", "end": 2744, "referenceAllele": "G", "start": 2743 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.2593G>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Gly865Arg", "hgvsWellDefined": "ENSP00000389744.2:p.Gly865Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.2593G>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2593G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Gly865Arg" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Gly865Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 2419, "referenceAllele": "G", "start": 2418 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*904G>A" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*904G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "A", "end": 2284, "referenceAllele": "G", "start": 2283 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.2143G>A" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Gly715Arg", "hgvsWellDefined": "ENSP00000510238.1:p.Gly715Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "A", "end": 3501, "referenceAllele": "G", "start": 3500 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.2596G>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Gly866Arg", "hgvsWellDefined": "ENSP00000332353.6:p.Gly866Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2596G>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.2596G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Gly866Arg" }, "RefSeq": { "hgvs": "NP_000255.2:p.Gly866Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 2896, "referenceAllele": "G", "start": 2895 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.2596G>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Gly866Arg", "hgvsWellDefined": "ENSP00000332353.6:p.Gly866Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "A", "end": 2738, "referenceAllele": "G", "start": 2737 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.2593G>A" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Gly865Arg", "hgvsWellDefined": "ENSP00000364423.2:p.Gly865Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "A", "end": 2365, "referenceAllele": "G", "start": 2364 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.2365G>A" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.2365G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "A", "end": 2658, "referenceAllele": "G", "start": 2657 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.2143G>A" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Gly715Arg", "hgvsWellDefined": "ENSP00000396135.1:p.Gly715Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "A", "end": 2502, "referenceAllele": "G", "start": 2501 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.2143G>A" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Gly715Arg", "hgvsWellDefined": "ENSP00000399981.1:p.Gly715Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "A", "end": 2584, "referenceAllele": "G", "start": 2583 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.2143G>A" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Gly715Arg", "hgvsWellDefined": "ENSP00000414823.2:p.Gly715Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "A", "end": 2984, "referenceAllele": "G", "start": 2983 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.2398G>A" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Gly800Arg", "hgvsWellDefined": "ENSP00000410287.2:p.Gly800Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "A", "end": 2892, "referenceAllele": "G", "start": 2891 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.2398G>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Gly800Arg", "hgvsWellDefined": "ENSP00000389744.1:p.Gly800Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "@id": "http://reg.genome.network/allele/PA915958275", "coordinates": [ { "allele": "A", "end": 2784, "referenceAllele": "G", "start": 2783 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.2596G>A", "LRG_515t1:c.2596G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Gly866Arg", "hgvsWellDefined": "NP_000255.2:p.Gly866Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825487081", "coordinates": [ { "allele": "A", "end": 2892, "referenceAllele": "G", "start": 2891 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.2398G>A", "LRG_515t2:c.2398G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Gly800Arg", "hgvsWellDefined": "NP_001077071.1:p.Gly800Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825495901", "coordinates": [ { "allele": "A", "end": 2738, "referenceAllele": "G", "start": 2737 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.2593G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Gly865Arg", "hgvsWellDefined": "NP_001077072.1:p.Gly865Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825503076", "coordinates": [ { "allele": "A", "end": 2502, "referenceAllele": "G", "start": 2501 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.2143G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Gly715Arg", "hgvsWellDefined": "NP_001077073.1:p.Gly715Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825507298", "coordinates": [ { "allele": "A", "end": 2485, "referenceAllele": "G", "start": 2484 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.2143G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Gly715Arg", "hgvsWellDefined": "NP_001077074.1:p.Gly715Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825510295", "coordinates": [ { "allele": "A", "end": 2584, "referenceAllele": "G", "start": 2583 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.2143G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Gly715Arg", "hgvsWellDefined": "NP_001077075.1:p.Gly715Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825513163", "coordinates": [ { "allele": "A", "end": 2658, "referenceAllele": "G", "start": 2657 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.2143G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Gly715Arg", "hgvsWellDefined": "NP_001077076.1:p.Gly715Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "A", "end": 2342, "referenceAllele": "G", "start": 2341 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.2143G>A" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Gly715Arg", "hgvsWellDefined": "XP_005252159.1:p.Gly715Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "A", "end": 2640, "referenceAllele": "G", "start": 2639 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.2440G>A" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Gly814Arg", "hgvsWellDefined": "XP_011517170.1:p.Gly814Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "A", "end": 2291, "referenceAllele": "G", "start": 2290 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.2143G>A" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Gly715Arg", "hgvsWellDefined": "XP_011517171.1:p.Gly715Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "A", "end": 2279, "referenceAllele": "G", "start": 2278 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.2143G>A" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Gly715Arg", "hgvsWellDefined": "XP_011517172.1:p.Gly715Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "A", "end": 2266, "referenceAllele": "G", "start": 2265 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.2143G>A" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Gly715Arg", "hgvsWellDefined": "XP_011517173.1:p.Gly715Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "A", "end": 2249, "referenceAllele": "G", "start": 2248 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.2143G>A" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Gly715Arg", "hgvsWellDefined": "XP_011517174.1:p.Gly715Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "A", "end": 2043, "referenceAllele": "G", "start": 2042 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.1756G>A" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Gly586Arg", "hgvsWellDefined": "XP_011517175.1:p.Gly586Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "A", "end": 2796, "referenceAllele": "G", "start": 2795 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.2596G>A" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Gly866Arg", "hgvsWellDefined": "XP_011517176.1:p.Gly866Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA915958275", "coordinates": [ { "allele": "A", "end": 2784, "referenceAllele": "G", "start": 2783 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.2596G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Gly866Arg", "hgvsWellDefined": "NP_000255.2:p.Gly866Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825487081", "coordinates": [ { "allele": "A", "end": 2984, "referenceAllele": "G", "start": 2983 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.2398G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Gly800Arg", "hgvsWellDefined": "NP_001077071.1:p.Gly800Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825495901", "coordinates": [ { "allele": "A", "end": 2738, "referenceAllele": "G", "start": 2737 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.2593G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Gly865Arg", "hgvsWellDefined": "NP_001077072.1:p.Gly865Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825503076", "coordinates": [ { "allele": "A", "end": 2502, "referenceAllele": "G", "start": 2501 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.2143G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Gly715Arg", "hgvsWellDefined": "NP_001077073.1:p.Gly715Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825507298", "coordinates": [ { "allele": "A", "end": 2485, "referenceAllele": "G", "start": 2484 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.2143G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Gly715Arg", "hgvsWellDefined": "NP_001077074.1:p.Gly715Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825510295", "coordinates": [ { "allele": "A", "end": 2584, "referenceAllele": "G", "start": 2583 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.2143G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Gly715Arg", "hgvsWellDefined": "NP_001077075.1:p.Gly715Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825513163", "coordinates": [ { "allele": "A", "end": 2658, "referenceAllele": "G", "start": 2657 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.2143G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Gly715Arg", "hgvsWellDefined": "NP_001077076.1:p.Gly715Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828033605", "coordinates": [ { "allele": "A", "end": 2628, "referenceAllele": "G", "start": 2627 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.2440G>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Gly814Arg", "hgvsWellDefined": "NP_001341847.1:p.Gly814Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "A", "end": 2618, "referenceAllele": "G", "start": 2617 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.2618G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA915958275", "coordinates": [ { "allele": "A", "end": 3501, "referenceAllele": "G", "start": 3500 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.2596G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Gly866Arg", "hgvsWellDefined": "NP_000255.2:p.Gly866Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2596G>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.2596G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Gly866Arg" }, "RefSeq": { "hgvs": "NP_000255.2:p.Gly866Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2825510295", "coordinates": [ { "allele": "A", "end": 2594, "referenceAllele": "G", "start": 2593 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.2143G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Gly715Arg", "hgvsWellDefined": "NP_001077075.1:p.Gly715Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828033605", "coordinates": [ { "allele": "A", "end": 3345, "referenceAllele": "G", "start": 3344 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.2440G>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Gly814Arg", "hgvsWellDefined": "NP_001341847.1:p.Gly814Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "A", "end": 3335, "referenceAllele": "G", "start": 3334 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.3335G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825487081", "coordinates": [ { "allele": "A", "end": 2898, "referenceAllele": "G", "start": 2897 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.2398G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Gly800Arg", "hgvsWellDefined": "NP_001077071.1:p.Gly800Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825495901", "coordinates": [ { "allele": "A", "end": 2744, "referenceAllele": "G", "start": 2743 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.2593G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Gly865Arg", "hgvsWellDefined": "NP_001077072.1:p.Gly865Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.2593G>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2593G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Gly865Arg" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Gly865Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2825503076", "coordinates": [ { "allele": "A", "end": 2502, "referenceAllele": "G", "start": 2501 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.2143G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Gly715Arg", "hgvsWellDefined": "NP_001077073.1:p.Gly715Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825507298", "coordinates": [ { "allele": "A", "end": 2485, "referenceAllele": "G", "start": 2484 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.2143G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Gly715Arg", "hgvsWellDefined": "NP_001077074.1:p.Gly715Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825513163", "coordinates": [ { "allele": "A", "end": 2658, "referenceAllele": "G", "start": 2657 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.2143G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Gly715Arg", "hgvsWellDefined": "NP_001077076.1:p.Gly715Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }