{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA349395", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.3074G>A (p.Arg1025His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=221896[alleleid]", "alleleId": 221896, "preferredName": "NM_000264.5(PTCH1):c.3074G>A (p.Arg1025His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/220559", "RCV": [ "RCV000205211", "RCV001018474", "RCV001539056" ], "variationId": 220559 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-98220389-C-T", "id": "9-98220389-C-T", "variant": "9:98220389 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98220389C>T?assembly=hg19", "id": "chr9:g.98220389C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95458107C>T?assembly=hg38", "id": "chr9:g.95458107C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/370150142", "rs": 370150142 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98220389-C-T?dataset=gnomad_r2_1", "id": "9-98220389-C-T", "variant": "9:98220389 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95458107-C-T?dataset=gnomad_r3", "id": "9-95458107-C-T", "variant": "9:95458107 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95458107-C-T?dataset=gnomad_r4", "id": "9-95458107-C-T", "variant": "9:95458107 C / T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 95458107, "referenceAllele": "C", "start": 95458106 } ], "hgvs": [ "NC_000009.12:g.95458107C>T", "CM000671.2:g.95458107C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 98220389, "referenceAllele": "C", "start": 98220388 } ], "hgvs": [ "NC_000009.11:g.98220389C>T", "CM000671.1:g.98220389C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 97260210, "referenceAllele": "C", "start": 97260209 } ], "hgvs": [ "NC_000009.10:g.97260210C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 63859, "referenceAllele": "G", "start": 63858 } ], "hgvs": [ "NG_007664.1:g.63859G>A", "LRG_515:g.63859G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3376, "referenceAllele": "G", "start": 3375 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.2876G>A" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Arg959His", "hgvsWellDefined": "ENSP00000518556.1:p.Arg959His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "A", "end": 3222, "referenceAllele": "G", "start": 3221 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.3071G>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Arg1024His", "hgvsWellDefined": "ENSP00000389744.2:p.Arg1024His" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.3071G>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.3071G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Arg1024His" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Arg1024His" } } } }, { "coordinates": [ { "allele": "A", "end": 2897, "referenceAllele": "G", "start": 2896 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*1382G>A" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*1382G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "A", "end": 2762, "referenceAllele": "G", "start": 2761 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.2621G>A" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Arg874His", "hgvsWellDefined": "ENSP00000510238.1:p.Arg874His" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "A", "end": 405, "referenceAllele": "G", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000693534.1:n.405G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS834291" }, { "coordinates": [ { "allele": "A", "end": 3979, "referenceAllele": "G", "start": 3978 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.3074G>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Arg1025His", "hgvsWellDefined": "ENSP00000332353.6:p.Arg1025His" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.3074G>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.3074G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Arg1025His" }, "RefSeq": { "hgvs": "NP_000255.2:p.Arg1025His" } } } }, { "coordinates": [ { "allele": "A", "end": 3374, "referenceAllele": "G", "start": 3373 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.3074G>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Arg1025His", "hgvsWellDefined": "ENSP00000332353.6:p.Arg1025His" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "A", "end": 3216, "referenceAllele": "G", "start": 3215 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.3071G>A" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Arg1024His", "hgvsWellDefined": "ENSP00000364423.2:p.Arg1024His" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "A", "end": 2843, "referenceAllele": "G", "start": 2842 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.2843G>A" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.2843G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "A", "end": 3136, "referenceAllele": "G", "start": 3135 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.2621G>A" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Arg874His", "hgvsWellDefined": "ENSP00000396135.1:p.Arg874His" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "A", "end": 2980, "referenceAllele": "G", "start": 2979 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.2621G>A" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Arg874His", "hgvsWellDefined": "ENSP00000399981.1:p.Arg874His" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "A", "end": 3062, "referenceAllele": "G", "start": 3061 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.2621G>A" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Arg874His", "hgvsWellDefined": "ENSP00000414823.2:p.Arg874His" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "A", "end": 3462, "referenceAllele": "G", "start": 3461 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.2876G>A" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Arg959His", "hgvsWellDefined": "ENSP00000410287.2:p.Arg959His" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "A", "end": 3370, "referenceAllele": "G", "start": 3369 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.2876G>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Arg959His", "hgvsWellDefined": "ENSP00000389744.1:p.Arg959His" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "A", "end": 424, "referenceAllele": "G", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000547615.1:n.424G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS366385" }, { "@id": "http://reg.genome.network/allele/PA355689", "coordinates": [ { "allele": "A", "end": 3262, "referenceAllele": "G", "start": 3261 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.3074G>A", "LRG_515t1:c.3074G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Arg1025His", "hgvsWellDefined": "NP_000255.2:p.Arg1025His" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA349397", "coordinates": [ { "allele": "A", "end": 3370, "referenceAllele": "G", "start": 3369 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.2876G>A", "LRG_515t2:c.2876G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Arg959His", "hgvsWellDefined": "NP_001077071.1:p.Arg959His" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825496654", "coordinates": [ { "allele": "A", "end": 3216, "referenceAllele": "G", "start": 3215 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.3071G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Arg1024His", "hgvsWellDefined": "NP_001077072.1:p.Arg1024His" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825503597", "coordinates": [ { "allele": "A", "end": 2980, "referenceAllele": "G", "start": 2979 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.2621G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Arg874His", "hgvsWellDefined": "NP_001077073.1:p.Arg874His" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825507638", "coordinates": [ { "allele": "A", "end": 2963, "referenceAllele": "G", "start": 2962 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.2621G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Arg874His", "hgvsWellDefined": "NP_001077074.1:p.Arg874His" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825510636", "coordinates": [ { "allele": "A", "end": 3062, "referenceAllele": "G", "start": 3061 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.2621G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Arg874His", "hgvsWellDefined": "NP_001077075.1:p.Arg874His" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825513504", "coordinates": [ { "allele": "A", "end": 3136, "referenceAllele": "G", "start": 3135 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.2621G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Arg874His", "hgvsWellDefined": "NP_001077076.1:p.Arg874His" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "A", "end": 2820, "referenceAllele": "G", "start": 2819 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.2621G>A" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Arg874His", "hgvsWellDefined": "XP_005252159.1:p.Arg874His" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "A", "end": 3118, "referenceAllele": "G", "start": 3117 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.2918G>A" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Arg973His", "hgvsWellDefined": "XP_011517170.1:p.Arg973His" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "A", "end": 2769, "referenceAllele": "G", "start": 2768 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.2621G>A" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Arg874His", "hgvsWellDefined": "XP_011517171.1:p.Arg874His" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "A", "end": 2757, "referenceAllele": "G", "start": 2756 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.2621G>A" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Arg874His", "hgvsWellDefined": "XP_011517172.1:p.Arg874His" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "A", "end": 2744, "referenceAllele": "G", "start": 2743 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.2621G>A" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Arg874His", "hgvsWellDefined": "XP_011517173.1:p.Arg874His" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "A", "end": 2727, "referenceAllele": "G", "start": 2726 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.2621G>A" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Arg874His", "hgvsWellDefined": "XP_011517174.1:p.Arg874His" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "A", "end": 2521, "referenceAllele": "G", "start": 2520 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.2234G>A" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Arg745His", "hgvsWellDefined": "XP_011517175.1:p.Arg745His" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "A", "end": 3274, "referenceAllele": "G", "start": 3273 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.3074G>A" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Arg1025His", "hgvsWellDefined": "XP_011517176.1:p.Arg1025His" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA355689", "coordinates": [ { "allele": "A", "end": 3262, "referenceAllele": "G", "start": 3261 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.3074G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Arg1025His", "hgvsWellDefined": "NP_000255.2:p.Arg1025His" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA349397", "coordinates": [ { "allele": "A", "end": 3462, "referenceAllele": "G", "start": 3461 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.2876G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Arg959His", "hgvsWellDefined": "NP_001077071.1:p.Arg959His" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825496654", "coordinates": [ { "allele": "A", "end": 3216, "referenceAllele": "G", "start": 3215 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.3071G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Arg1024His", "hgvsWellDefined": "NP_001077072.1:p.Arg1024His" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825503597", "coordinates": [ { "allele": "A", "end": 2980, "referenceAllele": "G", "start": 2979 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.2621G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Arg874His", "hgvsWellDefined": "NP_001077073.1:p.Arg874His" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825507638", "coordinates": [ { "allele": "A", "end": 2963, "referenceAllele": "G", "start": 2962 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.2621G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Arg874His", "hgvsWellDefined": "NP_001077074.1:p.Arg874His" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825510636", "coordinates": [ { "allele": "A", "end": 3062, "referenceAllele": "G", "start": 3061 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.2621G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Arg874His", "hgvsWellDefined": "NP_001077075.1:p.Arg874His" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825513504", "coordinates": [ { "allele": "A", "end": 3136, "referenceAllele": "G", "start": 3135 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.2621G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Arg874His", "hgvsWellDefined": "NP_001077076.1:p.Arg874His" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA916042962", "coordinates": [ { "allele": "A", "end": 3106, "referenceAllele": "G", "start": 3105 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.2918G>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Arg973His", "hgvsWellDefined": "NP_001341847.1:p.Arg973His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "A", "end": 3096, "referenceAllele": "G", "start": 3095 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.3096G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA355689", "coordinates": [ { "allele": "A", "end": 3979, "referenceAllele": "G", "start": 3978 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.3074G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Arg1025His", "hgvsWellDefined": "NP_000255.2:p.Arg1025His" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.3074G>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.3074G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Arg1025His" }, "RefSeq": { "hgvs": "NP_000255.2:p.Arg1025His" } } } }, { "@id": "http://reg.genome.network/allele/PA2825510636", "coordinates": [ { "allele": "A", "end": 3072, "referenceAllele": "G", "start": 3071 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.2621G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Arg874His", "hgvsWellDefined": "NP_001077075.1:p.Arg874His" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA916042962", "coordinates": [ { "allele": "A", "end": 3823, "referenceAllele": "G", "start": 3822 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.2918G>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Arg973His", "hgvsWellDefined": "NP_001341847.1:p.Arg973His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "A", "end": 3813, "referenceAllele": "G", "start": 3812 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.3813G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA349397", "coordinates": [ { "allele": "A", "end": 3376, "referenceAllele": "G", "start": 3375 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.2876G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Arg959His", "hgvsWellDefined": "NP_001077071.1:p.Arg959His" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825496654", "coordinates": [ { "allele": "A", "end": 3222, "referenceAllele": "G", "start": 3221 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.3071G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Arg1024His", "hgvsWellDefined": "NP_001077072.1:p.Arg1024His" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.3071G>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.3071G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Arg1024His" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Arg1024His" } } } }, { "@id": "http://reg.genome.network/allele/PA2825503597", "coordinates": [ { "allele": "A", "end": 2980, "referenceAllele": "G", "start": 2979 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.2621G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Arg874His", "hgvsWellDefined": "NP_001077073.1:p.Arg874His" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825507638", "coordinates": [ { "allele": "A", "end": 2963, "referenceAllele": "G", "start": 2962 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.2621G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Arg874His", "hgvsWellDefined": "NP_001077074.1:p.Arg874His" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825513504", "coordinates": [ { "allele": "A", "end": 3136, "referenceAllele": "G", "start": 3135 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.2621G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Arg874His", "hgvsWellDefined": "NP_001077076.1:p.Arg874His" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }