{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5138329", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.2761A>G (p.Ile921Val)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=397387[alleleid]", "alleleId": 397387, "preferredName": "NM_000264.5(PTCH1):c.2761A>G (p.Ile921Val)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/409128", "RCV": [ "RCV000463361", "RCV002436433", "RCV003477965" ], "variationId": 409128 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-98222008-T-C", "id": "9-98222008-T-C", "variant": "9:98222008 T / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98222008T>C?assembly=hg19", "id": "chr9:g.98222008T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95459726T>C?assembly=hg38", "id": "chr9:g.95459726T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/760174192", "rs": 760174192 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98222008-T-C?dataset=gnomad_r2_1", "id": "9-98222008-T-C", "variant": "9:98222008 T / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95459726-T-C?dataset=gnomad_r3", "id": "9-95459726-T-C", "variant": "9:95459726 T / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95459726-T-C?dataset=gnomad_r4", "id": "9-95459726-T-C", "variant": "9:95459726 T / C" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 95459726, "referenceAllele": "T", "start": 95459725 } ], "hgvs": [ "NC_000009.12:g.95459726T>C", "CM000671.2:g.95459726T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 98222008, "referenceAllele": "T", "start": 98222007 } ], "hgvs": [ "NC_000009.11:g.98222008T>C", "CM000671.1:g.98222008T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 97261829, "referenceAllele": "T", "start": 97261828 } ], "hgvs": [ "NC_000009.10:g.97261829T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "G", "end": 62240, "referenceAllele": "A", "start": 62239 } ], "hgvs": [ "NG_007664.1:g.62240A>G", "LRG_515:g.62240A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 3063, "referenceAllele": "A", "start": 3062 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.2563A>G" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Ile855Val", "hgvsWellDefined": "ENSP00000518556.1:p.Ile855Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "G", "end": 2909, "referenceAllele": "A", "start": 2908 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.2758A>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Ile920Val", "hgvsWellDefined": "ENSP00000389744.2:p.Ile920Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.2758A>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2758A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Ile920Val" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Ile920Val" } } } }, { "coordinates": [ { "allele": "G", "end": 2584, "referenceAllele": "A", "start": 2583 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*1069A>G" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*1069A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "G", "end": 2449, "referenceAllele": "A", "start": 2448 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.2308A>G" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Ile770Val", "hgvsWellDefined": "ENSP00000510238.1:p.Ile770Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "G", "end": 92, "referenceAllele": "A", "start": 91 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000693534.1:n.92A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS834291" }, { "coordinates": [ { "allele": "G", "end": 3666, "referenceAllele": "A", "start": 3665 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.2761A>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Ile921Val", "hgvsWellDefined": "ENSP00000332353.6:p.Ile921Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2761A>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.2761A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Ile921Val" }, "RefSeq": { "hgvs": "NP_000255.2:p.Ile921Val" } } } }, { "coordinates": [ { "allele": "G", "end": 3061, "referenceAllele": "A", "start": 3060 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.2761A>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Ile921Val", "hgvsWellDefined": "ENSP00000332353.6:p.Ile921Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "G", "end": 2903, "referenceAllele": "A", "start": 2902 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.2758A>G" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Ile920Val", "hgvsWellDefined": "ENSP00000364423.2:p.Ile920Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "G", "end": 2530, "referenceAllele": "A", "start": 2529 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.2530A>G" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.2530A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "G", "end": 2823, "referenceAllele": "A", "start": 2822 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.2308A>G" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Ile770Val", "hgvsWellDefined": "ENSP00000396135.1:p.Ile770Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "G", "end": 2667, "referenceAllele": "A", "start": 2666 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.2308A>G" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Ile770Val", "hgvsWellDefined": "ENSP00000399981.1:p.Ile770Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "G", "end": 2749, "referenceAllele": "A", "start": 2748 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.2308A>G" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Ile770Val", "hgvsWellDefined": "ENSP00000414823.2:p.Ile770Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "G", "end": 3149, "referenceAllele": "A", "start": 3148 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.2563A>G" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Ile855Val", "hgvsWellDefined": "ENSP00000410287.2:p.Ile855Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "G", "end": 3057, "referenceAllele": "A", "start": 3056 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.2563A>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Ile855Val", "hgvsWellDefined": "ENSP00000389744.1:p.Ile855Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "G", "end": 111, "referenceAllele": "A", "start": 110 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000547615.1:n.111A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS366385" }, { "@id": "http://reg.genome.network/allele/PA645506376", "coordinates": [ { "allele": "G", "end": 2949, "referenceAllele": "A", "start": 2948 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.2761A>G", "LRG_515t1:c.2761A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ile921Val", "hgvsWellDefined": "NP_000255.2:p.Ile921Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825489655", "coordinates": [ { "allele": "G", "end": 3057, "referenceAllele": "A", "start": 3056 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.2563A>G", "LRG_515t2:c.2563A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ile855Val", "hgvsWellDefined": "NP_001077071.1:p.Ile855Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825496141", "coordinates": [ { "allele": "G", "end": 2903, "referenceAllele": "A", "start": 2902 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.2758A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ile920Val", "hgvsWellDefined": "NP_001077072.1:p.Ile920Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825503292", "coordinates": [ { "allele": "G", "end": 2667, "referenceAllele": "A", "start": 2666 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.2308A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ile770Val", "hgvsWellDefined": "NP_001077073.1:p.Ile770Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825507404", "coordinates": [ { "allele": "G", "end": 2650, "referenceAllele": "A", "start": 2649 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.2308A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ile770Val", "hgvsWellDefined": "NP_001077074.1:p.Ile770Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825510401", "coordinates": [ { "allele": "G", "end": 2749, "referenceAllele": "A", "start": 2748 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.2308A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ile770Val", "hgvsWellDefined": "NP_001077075.1:p.Ile770Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825513268", "coordinates": [ { "allele": "G", "end": 2823, "referenceAllele": "A", "start": 2822 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.2308A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ile770Val", "hgvsWellDefined": "NP_001077076.1:p.Ile770Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "G", "end": 2507, "referenceAllele": "A", "start": 2506 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.2308A>G" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Ile770Val", "hgvsWellDefined": "XP_005252159.1:p.Ile770Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "G", "end": 2805, "referenceAllele": "A", "start": 2804 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.2605A>G" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Ile869Val", "hgvsWellDefined": "XP_011517170.1:p.Ile869Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "G", "end": 2456, "referenceAllele": "A", "start": 2455 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.2308A>G" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Ile770Val", "hgvsWellDefined": "XP_011517171.1:p.Ile770Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "G", "end": 2444, "referenceAllele": "A", "start": 2443 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.2308A>G" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Ile770Val", "hgvsWellDefined": "XP_011517172.1:p.Ile770Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "G", "end": 2431, "referenceAllele": "A", "start": 2430 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.2308A>G" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Ile770Val", "hgvsWellDefined": "XP_011517173.1:p.Ile770Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "G", "end": 2414, "referenceAllele": "A", "start": 2413 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.2308A>G" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Ile770Val", "hgvsWellDefined": "XP_011517174.1:p.Ile770Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "G", "end": 2208, "referenceAllele": "A", "start": 2207 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.1921A>G" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Ile641Val", "hgvsWellDefined": "XP_011517175.1:p.Ile641Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "G", "end": 2961, "referenceAllele": "A", "start": 2960 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.2761A>G" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Ile921Val", "hgvsWellDefined": "XP_011517176.1:p.Ile921Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA645506376", "coordinates": [ { "allele": "G", "end": 2949, "referenceAllele": "A", "start": 2948 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.2761A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ile921Val", "hgvsWellDefined": "NP_000255.2:p.Ile921Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825489655", "coordinates": [ { "allele": "G", "end": 3149, "referenceAllele": "A", "start": 3148 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.2563A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ile855Val", "hgvsWellDefined": "NP_001077071.1:p.Ile855Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825496141", "coordinates": [ { "allele": "G", "end": 2903, "referenceAllele": "A", "start": 2902 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.2758A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ile920Val", "hgvsWellDefined": "NP_001077072.1:p.Ile920Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825503292", "coordinates": [ { "allele": "G", "end": 2667, "referenceAllele": "A", "start": 2666 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.2308A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ile770Val", "hgvsWellDefined": "NP_001077073.1:p.Ile770Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825507404", "coordinates": [ { "allele": "G", "end": 2650, "referenceAllele": "A", "start": 2649 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.2308A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ile770Val", "hgvsWellDefined": "NP_001077074.1:p.Ile770Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825510401", "coordinates": [ { "allele": "G", "end": 2749, "referenceAllele": "A", "start": 2748 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.2308A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ile770Val", "hgvsWellDefined": "NP_001077075.1:p.Ile770Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825513268", "coordinates": [ { "allele": "G", "end": 2823, "referenceAllele": "A", "start": 2822 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.2308A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ile770Val", "hgvsWellDefined": "NP_001077076.1:p.Ile770Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828033771", "coordinates": [ { "allele": "G", "end": 2793, "referenceAllele": "A", "start": 2792 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.2605A>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Ile869Val", "hgvsWellDefined": "NP_001341847.1:p.Ile869Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "G", "end": 2783, "referenceAllele": "A", "start": 2782 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.2783A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA645506376", "coordinates": [ { "allele": "G", "end": 3666, "referenceAllele": "A", "start": 3665 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.2761A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ile921Val", "hgvsWellDefined": "NP_000255.2:p.Ile921Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2761A>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.2761A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Ile921Val" }, "RefSeq": { "hgvs": "NP_000255.2:p.Ile921Val" } } } }, { "@id": "http://reg.genome.network/allele/PA2825510401", "coordinates": [ { "allele": "G", "end": 2759, "referenceAllele": "A", "start": 2758 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.2308A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ile770Val", "hgvsWellDefined": "NP_001077075.1:p.Ile770Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828033771", "coordinates": [ { "allele": "G", "end": 3510, "referenceAllele": "A", "start": 3509 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.2605A>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Ile869Val", "hgvsWellDefined": "NP_001341847.1:p.Ile869Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "G", "end": 3500, "referenceAllele": "A", "start": 3499 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.3500A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825489655", "coordinates": [ { "allele": "G", "end": 3063, "referenceAllele": "A", "start": 3062 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.2563A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ile855Val", "hgvsWellDefined": "NP_001077071.1:p.Ile855Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825496141", "coordinates": [ { "allele": "G", "end": 2909, "referenceAllele": "A", "start": 2908 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.2758A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ile920Val", "hgvsWellDefined": "NP_001077072.1:p.Ile920Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.2758A>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2758A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Ile920Val" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Ile920Val" } } } }, { "@id": "http://reg.genome.network/allele/PA2825503292", "coordinates": [ { "allele": "G", "end": 2667, "referenceAllele": "A", "start": 2666 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.2308A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ile770Val", "hgvsWellDefined": "NP_001077073.1:p.Ile770Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825507404", "coordinates": [ { "allele": "G", "end": 2650, "referenceAllele": "A", "start": 2649 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.2308A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ile770Val", "hgvsWellDefined": "NP_001077074.1:p.Ile770Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825513268", "coordinates": [ { "allele": "G", "end": 2823, "referenceAllele": "A", "start": 2822 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.2308A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ile770Val", "hgvsWellDefined": "NP_001077076.1:p.Ile770Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }