{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374112614", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.2996G>A (p.Ser999Asn)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1856715[alleleid]", "alleleId": 1856715, "preferredName": "NM_000264.5(PTCH1):c.2996G>A (p.Ser999Asn)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1798576", "RCV": [ "RCV002435547", "RCV003102958" ], "variationId": 1798576 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98220467C>T?assembly=hg19", "id": "chr9:g.98220467C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95458185C>T?assembly=hg38", "id": "chr9:g.95458185C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2136661686", "rs": 2136661686 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 95458185, "referenceAllele": "C", "start": 95458184 } ], "hgvs": [ "NC_000009.12:g.95458185C>T", "CM000671.2:g.95458185C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 98220467, "referenceAllele": "C", "start": 98220466 } ], "hgvs": [ "NC_000009.11:g.98220467C>T", "CM000671.1:g.98220467C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 97260288, "referenceAllele": "C", "start": 97260287 } ], "hgvs": [ "NC_000009.10:g.97260288C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 63781, "referenceAllele": "G", "start": 63780 } ], "hgvs": [ "NG_007664.1:g.63781G>A", "LRG_515:g.63781G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3298, "referenceAllele": "G", "start": 3297 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.2798G>A" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Ser933Asn", "hgvsWellDefined": "ENSP00000518556.1:p.Ser933Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "A", "end": 3144, "referenceAllele": "G", "start": 3143 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.2993G>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Ser998Asn", "hgvsWellDefined": "ENSP00000389744.2:p.Ser998Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.2993G>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2993G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Ser998Asn" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Ser998Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 2819, "referenceAllele": "G", "start": 2818 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*1304G>A" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*1304G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "A", "end": 2684, "referenceAllele": "G", "start": 2683 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.2543G>A" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Ser848Asn", "hgvsWellDefined": "ENSP00000510238.1:p.Ser848Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "A", "end": 327, "referenceAllele": "G", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000693534.1:n.327G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS834291" }, { "coordinates": [ { "allele": "A", "end": 3901, "referenceAllele": "G", "start": 3900 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.2996G>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Ser999Asn", "hgvsWellDefined": "ENSP00000332353.6:p.Ser999Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2996G>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.2996G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Ser999Asn" }, "RefSeq": { "hgvs": "NP_000255.2:p.Ser999Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 3296, "referenceAllele": "G", "start": 3295 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.2996G>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Ser999Asn", "hgvsWellDefined": "ENSP00000332353.6:p.Ser999Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "A", "end": 3138, "referenceAllele": "G", "start": 3137 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.2993G>A" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Ser998Asn", "hgvsWellDefined": "ENSP00000364423.2:p.Ser998Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "A", "end": 2765, "referenceAllele": "G", "start": 2764 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.2765G>A" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.2765G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "A", "end": 3058, "referenceAllele": "G", "start": 3057 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.2543G>A" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Ser848Asn", "hgvsWellDefined": "ENSP00000396135.1:p.Ser848Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "A", "end": 2902, "referenceAllele": "G", "start": 2901 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.2543G>A" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Ser848Asn", "hgvsWellDefined": "ENSP00000399981.1:p.Ser848Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "A", "end": 2984, "referenceAllele": "G", "start": 2983 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.2543G>A" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Ser848Asn", "hgvsWellDefined": "ENSP00000414823.2:p.Ser848Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "A", "end": 3384, "referenceAllele": "G", "start": 3383 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.2798G>A" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Ser933Asn", "hgvsWellDefined": "ENSP00000410287.2:p.Ser933Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "A", "end": 3292, "referenceAllele": "G", "start": 3291 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.2798G>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Ser933Asn", "hgvsWellDefined": "ENSP00000389744.1:p.Ser933Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "A", "end": 346, "referenceAllele": "G", "start": 345 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000547615.1:n.346G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS366385" }, { "@id": "http://reg.genome.network/allele/PA2580108920", "coordinates": [ { "allele": "A", "end": 3184, "referenceAllele": "G", "start": 3183 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.2996G>A", "LRG_515t1:c.2996G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ser999Asn", "hgvsWellDefined": "NP_000255.2:p.Ser999Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825490012", "coordinates": [ { "allele": "A", "end": 3292, "referenceAllele": "G", "start": 3291 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.2798G>A", "LRG_515t2:c.2798G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ser933Asn", "hgvsWellDefined": "NP_001077071.1:p.Ser933Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825496526", "coordinates": [ { "allele": "A", "end": 3138, "referenceAllele": "G", "start": 3137 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.2993G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ser998Asn", "hgvsWellDefined": "NP_001077072.1:p.Ser998Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825503533", "coordinates": [ { "allele": "A", "end": 2902, "referenceAllele": "G", "start": 2901 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.2543G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ser848Asn", "hgvsWellDefined": "NP_001077073.1:p.Ser848Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825507577", "coordinates": [ { "allele": "A", "end": 2885, "referenceAllele": "G", "start": 2884 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.2543G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ser848Asn", "hgvsWellDefined": "NP_001077074.1:p.Ser848Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825510573", "coordinates": [ { "allele": "A", "end": 2984, "referenceAllele": "G", "start": 2983 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.2543G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ser848Asn", "hgvsWellDefined": "NP_001077075.1:p.Ser848Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825513440", "coordinates": [ { "allele": "A", "end": 3058, "referenceAllele": "G", "start": 3057 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.2543G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ser848Asn", "hgvsWellDefined": "NP_001077076.1:p.Ser848Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "A", "end": 2742, "referenceAllele": "G", "start": 2741 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.2543G>A" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Ser848Asn", "hgvsWellDefined": "XP_005252159.1:p.Ser848Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "A", "end": 3040, "referenceAllele": "G", "start": 3039 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.2840G>A" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Ser947Asn", "hgvsWellDefined": "XP_011517170.1:p.Ser947Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "A", "end": 2691, "referenceAllele": "G", "start": 2690 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.2543G>A" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Ser848Asn", "hgvsWellDefined": "XP_011517171.1:p.Ser848Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "A", "end": 2679, "referenceAllele": "G", "start": 2678 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.2543G>A" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Ser848Asn", "hgvsWellDefined": "XP_011517172.1:p.Ser848Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "A", "end": 2666, "referenceAllele": "G", "start": 2665 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.2543G>A" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Ser848Asn", "hgvsWellDefined": "XP_011517173.1:p.Ser848Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "A", "end": 2649, "referenceAllele": "G", "start": 2648 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.2543G>A" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Ser848Asn", "hgvsWellDefined": "XP_011517174.1:p.Ser848Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "A", "end": 2443, "referenceAllele": "G", "start": 2442 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.2156G>A" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Ser719Asn", "hgvsWellDefined": "XP_011517175.1:p.Ser719Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "A", "end": 3196, "referenceAllele": "G", "start": 3195 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.2996G>A" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Ser999Asn", "hgvsWellDefined": "XP_011517176.1:p.Ser999Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA2580108920", "coordinates": [ { "allele": "A", "end": 3184, "referenceAllele": "G", "start": 3183 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.2996G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ser999Asn", "hgvsWellDefined": "NP_000255.2:p.Ser999Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825490012", "coordinates": [ { "allele": "A", "end": 3384, "referenceAllele": "G", "start": 3383 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.2798G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ser933Asn", "hgvsWellDefined": "NP_001077071.1:p.Ser933Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825496526", "coordinates": [ { "allele": "A", "end": 3138, "referenceAllele": "G", "start": 3137 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.2993G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ser998Asn", "hgvsWellDefined": "NP_001077072.1:p.Ser998Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825503533", "coordinates": [ { "allele": "A", "end": 2902, "referenceAllele": "G", "start": 2901 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.2543G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ser848Asn", "hgvsWellDefined": "NP_001077073.1:p.Ser848Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825507577", "coordinates": [ { "allele": "A", "end": 2885, "referenceAllele": "G", "start": 2884 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.2543G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ser848Asn", "hgvsWellDefined": "NP_001077074.1:p.Ser848Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825510573", "coordinates": [ { "allele": "A", "end": 2984, "referenceAllele": "G", "start": 2983 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.2543G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ser848Asn", "hgvsWellDefined": "NP_001077075.1:p.Ser848Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825513440", "coordinates": [ { "allele": "A", "end": 3058, "referenceAllele": "G", "start": 3057 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.2543G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ser848Asn", "hgvsWellDefined": "NP_001077076.1:p.Ser848Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828034036", "coordinates": [ { "allele": "A", "end": 3028, "referenceAllele": "G", "start": 3027 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.2840G>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Ser947Asn", "hgvsWellDefined": "NP_001341847.1:p.Ser947Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "A", "end": 3018, "referenceAllele": "G", "start": 3017 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.3018G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA2580108920", "coordinates": [ { "allele": "A", "end": 3901, "referenceAllele": "G", "start": 3900 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.2996G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ser999Asn", "hgvsWellDefined": "NP_000255.2:p.Ser999Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2996G>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.2996G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Ser999Asn" }, "RefSeq": { "hgvs": "NP_000255.2:p.Ser999Asn" } } } }, { "@id": "http://reg.genome.network/allele/PA2825510573", "coordinates": [ { "allele": "A", "end": 2994, "referenceAllele": "G", "start": 2993 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.2543G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ser848Asn", "hgvsWellDefined": "NP_001077075.1:p.Ser848Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828034036", "coordinates": [ { "allele": "A", "end": 3745, "referenceAllele": "G", "start": 3744 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.2840G>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Ser947Asn", "hgvsWellDefined": "NP_001341847.1:p.Ser947Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "A", "end": 3735, "referenceAllele": "G", "start": 3734 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.3735G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825490012", "coordinates": [ { "allele": "A", "end": 3298, "referenceAllele": "G", "start": 3297 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.2798G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ser933Asn", "hgvsWellDefined": "NP_001077071.1:p.Ser933Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825496526", "coordinates": [ { "allele": "A", "end": 3144, "referenceAllele": "G", "start": 3143 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.2993G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ser998Asn", "hgvsWellDefined": "NP_001077072.1:p.Ser998Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.2993G>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2993G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Ser998Asn" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Ser998Asn" } } } }, { "@id": "http://reg.genome.network/allele/PA2825503533", "coordinates": [ { "allele": "A", "end": 2902, "referenceAllele": "G", "start": 2901 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.2543G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ser848Asn", "hgvsWellDefined": "NP_001077073.1:p.Ser848Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825507577", "coordinates": [ { "allele": "A", "end": 2885, "referenceAllele": "G", "start": 2884 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.2543G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ser848Asn", "hgvsWellDefined": "NP_001077074.1:p.Ser848Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825513440", "coordinates": [ { "allele": "A", "end": 3058, "referenceAllele": "G", "start": 3057 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.2543G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ser848Asn", "hgvsWellDefined": "NP_001077076.1:p.Ser848Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }