{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5137913", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.4249C>A (p.His1417Asn)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=638450[alleleid]", "alleleId": 638450, "preferredName": "NM_000264.5(PTCH1):c.4249C>A (p.His1417Asn)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/653772", "RCV": [ "RCV000809595", "RCV001022129" ], "variationId": 653772 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-98209289-G-T", "id": "9-98209289-G-T", "variant": "9:98209289 G / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98209289G>T?assembly=hg19", "id": "chr9:g.98209289G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95447007G>T?assembly=hg38", "id": "chr9:g.95447007G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/776235476", "rs": 776235476 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98209289-G-T?dataset=gnomad_r2_1", "id": "9-98209289-G-T", "variant": "9:98209289 G / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95447007-G-T?dataset=gnomad_r3", "id": "9-95447007-G-T", "variant": "9:95447007 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95447007-G-T?dataset=gnomad_r4", "id": "9-95447007-G-T", "variant": "9:95447007 G / T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 95447007, "referenceAllele": "G", "start": 95447006 } ], "hgvs": [ "NC_000009.12:g.95447007G>T", "CM000671.2:g.95447007G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 98209289, "referenceAllele": "G", "start": 98209288 } ], "hgvs": [ "NC_000009.11:g.98209289G>T", "CM000671.1:g.98209289G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 97249110, "referenceAllele": "G", "start": 97249109 } ], "hgvs": [ "NC_000009.10:g.97249110G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 74959, "referenceAllele": "C", "start": 74958 } ], "hgvs": [ "NG_007664.1:g.74959C>A", "LRG_515:g.74959C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4551, "referenceAllele": "C", "start": 4550 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.4051C>A" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.His1351Asn", "hgvsWellDefined": "ENSP00000518556.1:p.His1351Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "A", "end": 4397, "referenceAllele": "C", "start": 4396 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.4246C>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.His1416Asn", "hgvsWellDefined": "ENSP00000389744.2:p.His1416Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.4246C>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.4246C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.His1416Asn" }, "RefSeq": { "hgvs": "NP_001077072.1:p.His1416Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 2446, "referenceAllele": "C", "start": 2445 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000687744.1:n.2446C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831242" }, { "coordinates": [ { "allele": "A", "end": 4072, "referenceAllele": "C", "start": 4071 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*2557C>A" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*2557C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "A", "end": 3937, "referenceAllele": "C", "start": 3936 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.3796C>A" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.His1266Asn", "hgvsWellDefined": "ENSP00000510238.1:p.His1266Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "A", "end": 1596, "referenceAllele": "C", "start": 1595 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000693534.1:n.1596C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS834291" }, { "coordinates": [ { "allele": "A", "end": 5154, "referenceAllele": "C", "start": 5153 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.4249C>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.His1417Asn", "hgvsWellDefined": "ENSP00000332353.6:p.His1417Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.4249C>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.4249C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.His1417Asn" }, "RefSeq": { "hgvs": "NP_000255.2:p.His1417Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 4549, "referenceAllele": "C", "start": 4548 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.4249C>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.His1417Asn", "hgvsWellDefined": "ENSP00000332353.6:p.His1417Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "A", "end": 4391, "referenceAllele": "C", "start": 4390 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.4246C>A" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.His1416Asn", "hgvsWellDefined": "ENSP00000364423.2:p.His1416Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "A", "end": 7555, "referenceAllele": "C", "start": 7554 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.7555C>A" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.7555C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "A", "end": 4311, "referenceAllele": "C", "start": 4310 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.3796C>A" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.His1266Asn", "hgvsWellDefined": "ENSP00000396135.1:p.His1266Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "A", "end": 4155, "referenceAllele": "C", "start": 4154 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.3796C>A" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.His1266Asn", "hgvsWellDefined": "ENSP00000399981.1:p.His1266Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "A", "end": 4237, "referenceAllele": "C", "start": 4236 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.3796C>A" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.His1266Asn", "hgvsWellDefined": "ENSP00000414823.2:p.His1266Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "A", "end": 4637, "referenceAllele": "C", "start": 4636 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.4051C>A" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.His1351Asn", "hgvsWellDefined": "ENSP00000410287.2:p.His1351Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "A", "end": 4545, "referenceAllele": "C", "start": 4544 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.4051C>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.His1351Asn", "hgvsWellDefined": "ENSP00000389744.1:p.His1351Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "A", "end": 1313, "referenceAllele": "C", "start": 1312 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000546744.5:n.1313C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS365841" }, { "@id": "http://reg.genome.network/allele/PA915958613", "coordinates": [ { "allele": "A", "end": 4437, "referenceAllele": "C", "start": 4436 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.4249C>A", "LRG_515t1:c.4249C>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.His1417Asn", "hgvsWellDefined": "NP_000255.2:p.His1417Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825487626", "coordinates": [ { "allele": "A", "end": 4545, "referenceAllele": "C", "start": 4544 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.4051C>A", "LRG_515t2:c.4051C>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.His1351Asn", "hgvsWellDefined": "NP_001077071.1:p.His1351Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825498920", "coordinates": [ { "allele": "A", "end": 4391, "referenceAllele": "C", "start": 4390 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.4246C>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.His1416Asn", "hgvsWellDefined": "NP_001077072.1:p.His1416Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825505645", "coordinates": [ { "allele": "A", "end": 4155, "referenceAllele": "C", "start": 4154 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.3796C>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.His1266Asn", "hgvsWellDefined": "NP_001077073.1:p.His1266Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825508643", "coordinates": [ { "allele": "A", "end": 4138, "referenceAllele": "C", "start": 4137 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.3796C>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.His1266Asn", "hgvsWellDefined": "NP_001077074.1:p.His1266Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825511638", "coordinates": [ { "allele": "A", "end": 4237, "referenceAllele": "C", "start": 4236 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.3796C>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.His1266Asn", "hgvsWellDefined": "NP_001077075.1:p.His1266Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825514381", "coordinates": [ { "allele": "A", "end": 4311, "referenceAllele": "C", "start": 4310 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.3796C>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.His1266Asn", "hgvsWellDefined": "NP_001077076.1:p.His1266Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "A", "end": 3995, "referenceAllele": "C", "start": 3994 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.3796C>A" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.His1266Asn", "hgvsWellDefined": "XP_005252159.1:p.His1266Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "A", "end": 4293, "referenceAllele": "C", "start": 4292 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.4093C>A" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.His1365Asn", "hgvsWellDefined": "XP_011517170.1:p.His1365Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "A", "end": 3944, "referenceAllele": "C", "start": 3943 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.3796C>A" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.His1266Asn", "hgvsWellDefined": "XP_011517171.1:p.His1266Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "A", "end": 3932, "referenceAllele": "C", "start": 3931 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.3796C>A" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.His1266Asn", "hgvsWellDefined": "XP_011517172.1:p.His1266Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "A", "end": 3919, "referenceAllele": "C", "start": 3918 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.3796C>A" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.His1266Asn", "hgvsWellDefined": "XP_011517173.1:p.His1266Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "A", "end": 3902, "referenceAllele": "C", "start": 3901 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.3796C>A" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.His1266Asn", "hgvsWellDefined": "XP_011517174.1:p.His1266Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "A", "end": 3696, "referenceAllele": "C", "start": 3695 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.3409C>A" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.His1137Asn", "hgvsWellDefined": "XP_011517175.1:p.His1137Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "@id": "http://reg.genome.network/allele/PA915958613", "coordinates": [ { "allele": "A", "end": 4437, "referenceAllele": "C", "start": 4436 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.4249C>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.His1417Asn", "hgvsWellDefined": "NP_000255.2:p.His1417Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825487626", "coordinates": [ { "allele": "A", "end": 4637, "referenceAllele": "C", "start": 4636 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.4051C>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.His1351Asn", "hgvsWellDefined": "NP_001077071.1:p.His1351Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825498920", "coordinates": [ { "allele": "A", "end": 4391, "referenceAllele": "C", "start": 4390 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.4246C>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.His1416Asn", "hgvsWellDefined": "NP_001077072.1:p.His1416Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825505645", "coordinates": [ { "allele": "A", "end": 4155, "referenceAllele": "C", "start": 4154 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.3796C>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.His1266Asn", "hgvsWellDefined": "NP_001077073.1:p.His1266Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825508643", "coordinates": [ { "allele": "A", "end": 4138, "referenceAllele": "C", "start": 4137 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.3796C>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.His1266Asn", "hgvsWellDefined": "NP_001077074.1:p.His1266Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825511638", "coordinates": [ { "allele": "A", "end": 4237, "referenceAllele": "C", "start": 4236 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.3796C>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.His1266Asn", "hgvsWellDefined": "NP_001077075.1:p.His1266Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825514381", "coordinates": [ { "allele": "A", "end": 4311, "referenceAllele": "C", "start": 4310 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.3796C>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.His1266Asn", "hgvsWellDefined": "NP_001077076.1:p.His1266Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828035865", "coordinates": [ { "allele": "A", "end": 4281, "referenceAllele": "C", "start": 4280 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.4093C>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.His1365Asn", "hgvsWellDefined": "NP_001341847.1:p.His1365Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "A", "end": 4271, "referenceAllele": "C", "start": 4270 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.4271C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA915958613", "coordinates": [ { "allele": "A", "end": 5154, "referenceAllele": "C", "start": 5153 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.4249C>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.His1417Asn", "hgvsWellDefined": "NP_000255.2:p.His1417Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.4249C>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.4249C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.His1417Asn" }, "RefSeq": { "hgvs": "NP_000255.2:p.His1417Asn" } } } }, { "@id": "http://reg.genome.network/allele/PA2825511638", "coordinates": [ { "allele": "A", "end": 4247, "referenceAllele": "C", "start": 4246 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.3796C>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.His1266Asn", "hgvsWellDefined": "NP_001077075.1:p.His1266Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828035865", "coordinates": [ { "allele": "A", "end": 4998, "referenceAllele": "C", "start": 4997 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.4093C>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.His1365Asn", "hgvsWellDefined": "NP_001341847.1:p.His1365Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "A", "end": 4988, "referenceAllele": "C", "start": 4987 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.4988C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825487626", "coordinates": [ { "allele": "A", "end": 4551, "referenceAllele": "C", "start": 4550 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.4051C>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.His1351Asn", "hgvsWellDefined": "NP_001077071.1:p.His1351Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825498920", "coordinates": [ { "allele": "A", "end": 4397, "referenceAllele": "C", "start": 4396 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.4246C>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.His1416Asn", "hgvsWellDefined": "NP_001077072.1:p.His1416Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.4246C>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.4246C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.His1416Asn" }, "RefSeq": { "hgvs": "NP_001077072.1:p.His1416Asn" } } } }, { "@id": "http://reg.genome.network/allele/PA2825505645", "coordinates": [ { "allele": "A", "end": 4155, "referenceAllele": "C", "start": 4154 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.3796C>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.His1266Asn", "hgvsWellDefined": "NP_001077073.1:p.His1266Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825508643", "coordinates": [ { "allele": "A", "end": 4138, "referenceAllele": "C", "start": 4137 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.3796C>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.His1266Asn", "hgvsWellDefined": "NP_001077074.1:p.His1266Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825514381", "coordinates": [ { "allele": "A", "end": 4311, "referenceAllele": "C", "start": 4310 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.3796C>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.His1266Asn", "hgvsWellDefined": "NP_001077076.1:p.His1266Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }