{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374119590", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.1051A>T (p.Thr351Ser)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98242267T>A?assembly=hg19", "id": "chr9:g.98242267T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95479985T>A?assembly=hg38", "id": "chr9:g.95479985T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2118388312", "rs": 2118388312 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 95479985, "referenceAllele": "T", "start": 95479984 } ], "hgvs": [ "NC_000009.12:g.95479985T>A", "CM000671.2:g.95479985T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 98242267, "referenceAllele": "T", "start": 98242266 } ], "hgvs": [ "NC_000009.11:g.98242267T>A", "CM000671.1:g.98242267T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 97282088, "referenceAllele": "T", "start": 97282087 } ], "hgvs": [ "NC_000009.10:g.97282088T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 41981, "referenceAllele": "A", "start": 41980 } ], "hgvs": [ "NG_007664.1:g.41981A>T", "LRG_515:g.41981A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1353, "referenceAllele": "A", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.853A>T" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Thr285Ser", "hgvsWellDefined": "ENSP00000518556.1:p.Thr285Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "T", "end": 1199, "referenceAllele": "A", "start": 1198 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.1048A>T" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Thr350Ser", "hgvsWellDefined": "ENSP00000389744.2:p.Thr350Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1048A>T" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1048A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Thr350Ser" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Thr350Ser" } } } }, { "coordinates": [ { "allele": "T", "end": 742, "referenceAllele": "A", "start": 741 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.598A>T" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:p.Thr200Ser", "hgvsWellDefined": "ENSP00000509379.1:p.Thr200Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "T", "end": 739, "referenceAllele": "A", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.598A>T" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Thr200Ser", "hgvsWellDefined": "ENSP00000510238.1:p.Thr200Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "T", "end": 1956, "referenceAllele": "A", "start": 1955 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.1051A>T" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Thr351Ser", "hgvsWellDefined": "ENSP00000332353.6:p.Thr351Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1051A>T" }, "RefSeq": { "hgvs": "NM_000264.5:c.1051A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Thr351Ser" }, "RefSeq": { "hgvs": "NP_000255.2:p.Thr351Ser" } } } }, { "coordinates": [ { "allele": "T", "end": 1351, "referenceAllele": "A", "start": 1350 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.1051A>T" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Thr351Ser", "hgvsWellDefined": "ENSP00000332353.6:p.Thr351Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "T", "end": 202, "referenceAllele": "A", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375271.4:c.202A>T" ], "proteinEffect": { "hgvs": "ENSP00000364420.4:p.Thr68Ser", "hgvsWellDefined": "ENSP00000364420.4:p.Thr68Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS270639" }, { "coordinates": [ { "allele": "T", "end": 1193, "referenceAllele": "A", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.1048A>T" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Thr350Ser", "hgvsWellDefined": "ENSP00000364423.2:p.Thr350Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "T", "end": 688, "referenceAllele": "A", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.688A>T" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:p.Thr230Ser", "hgvsWellDefined": "ENSP00000364439.2:p.Thr230Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "T", "end": 1113, "referenceAllele": "A", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.598A>T" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Thr200Ser", "hgvsWellDefined": "ENSP00000396135.1:p.Thr200Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "T", "end": 957, "referenceAllele": "A", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.598A>T" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Thr200Ser", "hgvsWellDefined": "ENSP00000399981.1:p.Thr200Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "T", "end": 1039, "referenceAllele": "A", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.598A>T" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Thr200Ser", "hgvsWellDefined": "ENSP00000414823.2:p.Thr200Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "T", "end": 1439, "referenceAllele": "A", "start": 1438 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.853A>T" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Thr285Ser", "hgvsWellDefined": "ENSP00000410287.2:p.Thr285Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "T", "end": 1347, "referenceAllele": "A", "start": 1346 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.853A>T" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Thr285Ser", "hgvsWellDefined": "ENSP00000389744.1:p.Thr285Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "T", "end": 172, "referenceAllele": "A", "start": 171 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000488809.2:n.172A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS327010" }, { "@id": "http://reg.genome.network/allele/PA2825119709", "coordinates": [ { "allele": "T", "end": 1239, "referenceAllele": "A", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.1051A>T", "LRG_515t1:c.1051A>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Thr351Ser", "hgvsWellDefined": "NP_000255.2:p.Thr351Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825488235", "coordinates": [ { "allele": "T", "end": 1347, "referenceAllele": "A", "start": 1346 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.853A>T", "LRG_515t2:c.853A>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Thr285Ser", "hgvsWellDefined": "NP_001077071.1:p.Thr285Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825493007", "coordinates": [ { "allele": "T", "end": 1193, "referenceAllele": "A", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.1048A>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Thr350Ser", "hgvsWellDefined": "NP_001077072.1:p.Thr350Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825500315", "coordinates": [ { "allele": "T", "end": 957, "referenceAllele": "A", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.598A>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Thr200Ser", "hgvsWellDefined": "NP_001077073.1:p.Thr200Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825506175", "coordinates": [ { "allele": "T", "end": 940, "referenceAllele": "A", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.598A>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Thr200Ser", "hgvsWellDefined": "NP_001077074.1:p.Thr200Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825509172", "coordinates": [ { "allele": "T", "end": 1039, "referenceAllele": "A", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.598A>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Thr200Ser", "hgvsWellDefined": "NP_001077075.1:p.Thr200Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825512040", "coordinates": [ { "allele": "T", "end": 1113, "referenceAllele": "A", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.598A>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Thr200Ser", "hgvsWellDefined": "NP_001077076.1:p.Thr200Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "T", "end": 797, "referenceAllele": "A", "start": 796 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.598A>T" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Thr200Ser", "hgvsWellDefined": "XP_005252159.1:p.Thr200Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "T", "end": 1251, "referenceAllele": "A", "start": 1250 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.1051A>T" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Thr351Ser", "hgvsWellDefined": "XP_011517170.1:p.Thr351Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "T", "end": 746, "referenceAllele": "A", "start": 745 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.598A>T" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Thr200Ser", "hgvsWellDefined": "XP_011517171.1:p.Thr200Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "T", "end": 734, "referenceAllele": "A", "start": 733 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.598A>T" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Thr200Ser", "hgvsWellDefined": "XP_011517172.1:p.Thr200Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "A", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.598A>T" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Thr200Ser", "hgvsWellDefined": "XP_011517173.1:p.Thr200Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "T", "end": 704, "referenceAllele": "A", "start": 703 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.598A>T" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Thr200Ser", "hgvsWellDefined": "XP_011517174.1:p.Thr200Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "T", "end": 498, "referenceAllele": "A", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.211A>T" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Thr71Ser", "hgvsWellDefined": "XP_011517175.1:p.Thr71Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "T", "end": 1251, "referenceAllele": "A", "start": 1250 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.1051A>T" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Thr351Ser", "hgvsWellDefined": "XP_011517176.1:p.Thr351Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA2825119709", "coordinates": [ { "allele": "T", "end": 1239, "referenceAllele": "A", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.1051A>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Thr351Ser", "hgvsWellDefined": "NP_000255.2:p.Thr351Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825488235", "coordinates": [ { "allele": "T", "end": 1439, "referenceAllele": "A", "start": 1438 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.853A>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Thr285Ser", "hgvsWellDefined": "NP_001077071.1:p.Thr285Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825493007", "coordinates": [ { "allele": "T", "end": 1193, "referenceAllele": "A", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.1048A>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Thr350Ser", "hgvsWellDefined": "NP_001077072.1:p.Thr350Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825500315", "coordinates": [ { "allele": "T", "end": 957, "referenceAllele": "A", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.598A>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Thr200Ser", "hgvsWellDefined": "NP_001077073.1:p.Thr200Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825506175", "coordinates": [ { "allele": "T", "end": 940, "referenceAllele": "A", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.598A>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Thr200Ser", "hgvsWellDefined": "NP_001077074.1:p.Thr200Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825509172", "coordinates": [ { "allele": "T", "end": 1039, "referenceAllele": "A", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.598A>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Thr200Ser", "hgvsWellDefined": "NP_001077075.1:p.Thr200Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825512040", "coordinates": [ { "allele": "T", "end": 1113, "referenceAllele": "A", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.598A>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Thr200Ser", "hgvsWellDefined": "NP_001077076.1:p.Thr200Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2580231308", "coordinates": [ { "allele": "T", "end": 1239, "referenceAllele": "A", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.1051A>T" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Thr351Ser", "hgvsWellDefined": "NP_001341847.1:p.Thr351Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "T", "end": 1239, "referenceAllele": "A", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.1239A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA2825119709", "coordinates": [ { "allele": "T", "end": 1956, "referenceAllele": "A", "start": 1955 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.1051A>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Thr351Ser", "hgvsWellDefined": "NP_000255.2:p.Thr351Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1051A>T" }, "RefSeq": { "hgvs": "NM_000264.5:c.1051A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Thr351Ser" }, "RefSeq": { "hgvs": "NP_000255.2:p.Thr351Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA2825509172", "coordinates": [ { "allele": "T", "end": 1049, "referenceAllele": "A", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.598A>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Thr200Ser", "hgvsWellDefined": "NP_001077075.1:p.Thr200Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2580231308", "coordinates": [ { "allele": "T", "end": 1956, "referenceAllele": "A", "start": 1955 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.1051A>T" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Thr351Ser", "hgvsWellDefined": "NP_001341847.1:p.Thr351Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "T", "end": 1956, "referenceAllele": "A", "start": 1955 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.1956A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825488235", "coordinates": [ { "allele": "T", "end": 1353, "referenceAllele": "A", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.853A>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Thr285Ser", "hgvsWellDefined": "NP_001077071.1:p.Thr285Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825493007", "coordinates": [ { "allele": "T", "end": 1199, "referenceAllele": "A", "start": 1198 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.1048A>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Thr350Ser", "hgvsWellDefined": "NP_001077072.1:p.Thr350Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1048A>T" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1048A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Thr350Ser" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Thr350Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA2825500315", "coordinates": [ { "allele": "T", "end": 957, "referenceAllele": "A", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.598A>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Thr200Ser", "hgvsWellDefined": "NP_001077073.1:p.Thr200Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825506175", "coordinates": [ { "allele": "T", "end": 940, "referenceAllele": "A", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.598A>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Thr200Ser", "hgvsWellDefined": "NP_001077074.1:p.Thr200Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825512040", "coordinates": [ { "allele": "T", "end": 1113, "referenceAllele": "A", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.598A>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Thr200Ser", "hgvsWellDefined": "NP_001077076.1:p.Thr200Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }