{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374117966", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.1681A>G (p.Met561Val)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=925678[alleleid]", "alleleId": 925678, "preferredName": "NM_000264.5(PTCH1):c.1681A>G (p.Met561Val)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/951195", "RCV": [ "RCV001223051", "RCV002402690" ], "variationId": 951195 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98238363T>C?assembly=hg19", "id": "chr9:g.98238363T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95476081T>C?assembly=hg38", "id": "chr9:g.95476081T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1332335605", "rs": 1332335605 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98238363-T-C?dataset=gnomad_r2_1", "id": "9-98238363-T-C", "variant": "9:98238363 T / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95476081-T-C?dataset=gnomad_r4", "id": "9-95476081-T-C", "variant": "9:95476081 T / C" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 95476081, "referenceAllele": "T", "start": 95476080 } ], "hgvs": [ "NC_000009.12:g.95476081T>C", "CM000671.2:g.95476081T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 98238363, "referenceAllele": "T", "start": 98238362 } ], "hgvs": [ "NC_000009.11:g.98238363T>C", "CM000671.1:g.98238363T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 97278184, "referenceAllele": "T", "start": 97278183 } ], "hgvs": [ "NC_000009.10:g.97278184T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "G", "end": 45885, "referenceAllele": "A", "start": 45884 } ], "hgvs": [ "NG_007664.1:g.45885A>G", "LRG_515:g.45885A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1983, "referenceAllele": "A", "start": 1982 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.1483A>G" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Met495Val", "hgvsWellDefined": "ENSP00000518556.1:p.Met495Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "G", "end": 1829, "referenceAllele": "A", "start": 1828 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.1678A>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Met560Val", "hgvsWellDefined": "ENSP00000389744.2:p.Met560Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1678A>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1678A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Met560Val" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Met560Val" } } } }, { "coordinates": [ { "allele": "G", "end": 1372, "referenceAllele": "A", "start": 1371 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.1228A>G" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:p.Met410Val", "hgvsWellDefined": "ENSP00000509379.1:p.Met410Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "G", "end": 1369, "referenceAllele": "A", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.1228A>G" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Met410Val", "hgvsWellDefined": "ENSP00000510238.1:p.Met410Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "G", "end": 2586, "referenceAllele": "A", "start": 2585 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.1681A>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Met561Val", "hgvsWellDefined": "ENSP00000332353.6:p.Met561Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1681A>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.1681A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Met561Val" }, "RefSeq": { "hgvs": "NP_000255.2:p.Met561Val" } } } }, { "coordinates": [ { "allele": "G", "end": 1981, "referenceAllele": "A", "start": 1980 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.1681A>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Met561Val", "hgvsWellDefined": "ENSP00000332353.6:p.Met561Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "G", "end": 676, "referenceAllele": "A", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375271.4:c.676A>G" ], "proteinEffect": { "hgvs": "ENSP00000364420.4:p.Met226Val", "hgvsWellDefined": "ENSP00000364420.4:p.Met226Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS270639" }, { "coordinates": [ { "allele": "G", "end": 1823, "referenceAllele": "A", "start": 1822 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.1678A>G" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Met560Val", "hgvsWellDefined": "ENSP00000364423.2:p.Met560Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "G", "end": 1318, "referenceAllele": "A", "start": 1317 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.1318A>G" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:p.Met440Val", "hgvsWellDefined": "ENSP00000364439.2:p.Met440Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "G", "end": 1743, "referenceAllele": "A", "start": 1742 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.1228A>G" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Met410Val", "hgvsWellDefined": "ENSP00000396135.1:p.Met410Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "G", "end": 1587, "referenceAllele": "A", "start": 1586 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.1228A>G" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Met410Val", "hgvsWellDefined": "ENSP00000399981.1:p.Met410Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "G", "end": 1669, "referenceAllele": "A", "start": 1668 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.1228A>G" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Met410Val", "hgvsWellDefined": "ENSP00000414823.2:p.Met410Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "G", "end": 2069, "referenceAllele": "A", "start": 2068 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.1483A>G" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Met495Val", "hgvsWellDefined": "ENSP00000410287.2:p.Met495Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "G", "end": 1977, "referenceAllele": "A", "start": 1976 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.1483A>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Met495Val", "hgvsWellDefined": "ENSP00000389744.1:p.Met495Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "@id": "http://reg.genome.network/allele/PA1139678601", "coordinates": [ { "allele": "G", "end": 1869, "referenceAllele": "A", "start": 1868 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.1681A>G", "LRG_515t1:c.1681A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Met561Val", "hgvsWellDefined": "NP_000255.2:p.Met561Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825488670", "coordinates": [ { "allele": "G", "end": 1977, "referenceAllele": "A", "start": 1976 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.1483A>G", "LRG_515t2:c.1483A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Met495Val", "hgvsWellDefined": "NP_001077071.1:p.Met495Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825494375", "coordinates": [ { "allele": "G", "end": 1823, "referenceAllele": "A", "start": 1822 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.1678A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Met560Val", "hgvsWellDefined": "NP_001077072.1:p.Met560Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825501546", "coordinates": [ { "allele": "G", "end": 1587, "referenceAllele": "A", "start": 1586 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.1228A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Met410Val", "hgvsWellDefined": "NP_001077073.1:p.Met410Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825506623", "coordinates": [ { "allele": "G", "end": 1570, "referenceAllele": "A", "start": 1569 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.1228A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Met410Val", "hgvsWellDefined": "NP_001077074.1:p.Met410Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825509623", "coordinates": [ { "allele": "G", "end": 1669, "referenceAllele": "A", "start": 1668 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.1228A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Met410Val", "hgvsWellDefined": "NP_001077075.1:p.Met410Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825512487", "coordinates": [ { "allele": "G", "end": 1743, "referenceAllele": "A", "start": 1742 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.1228A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Met410Val", "hgvsWellDefined": "NP_001077076.1:p.Met410Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "G", "end": 1427, "referenceAllele": "A", "start": 1426 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.1228A>G" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Met410Val", "hgvsWellDefined": "XP_005252159.1:p.Met410Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "G", "end": 1725, "referenceAllele": "A", "start": 1724 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.1525A>G" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Met509Val", "hgvsWellDefined": "XP_011517170.1:p.Met509Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "G", "end": 1376, "referenceAllele": "A", "start": 1375 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.1228A>G" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Met410Val", "hgvsWellDefined": "XP_011517171.1:p.Met410Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "G", "end": 1364, "referenceAllele": "A", "start": 1363 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.1228A>G" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Met410Val", "hgvsWellDefined": "XP_011517172.1:p.Met410Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "G", "end": 1351, "referenceAllele": "A", "start": 1350 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.1228A>G" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Met410Val", "hgvsWellDefined": "XP_011517173.1:p.Met410Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "G", "end": 1334, "referenceAllele": "A", "start": 1333 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.1228A>G" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Met410Val", "hgvsWellDefined": "XP_011517174.1:p.Met410Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "G", "end": 1128, "referenceAllele": "A", "start": 1127 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.841A>G" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Met281Val", "hgvsWellDefined": "XP_011517175.1:p.Met281Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "G", "end": 1881, "referenceAllele": "A", "start": 1880 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.1681A>G" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Met561Val", "hgvsWellDefined": "XP_011517176.1:p.Met561Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA1139678601", "coordinates": [ { "allele": "G", "end": 1869, "referenceAllele": "A", "start": 1868 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.1681A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Met561Val", "hgvsWellDefined": "NP_000255.2:p.Met561Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825488670", "coordinates": [ { "allele": "G", "end": 2069, "referenceAllele": "A", "start": 2068 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.1483A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Met495Val", "hgvsWellDefined": "NP_001077071.1:p.Met495Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825494375", "coordinates": [ { "allele": "G", "end": 1823, "referenceAllele": "A", "start": 1822 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.1678A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Met560Val", "hgvsWellDefined": "NP_001077072.1:p.Met560Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825501546", "coordinates": [ { "allele": "G", "end": 1587, "referenceAllele": "A", "start": 1586 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.1228A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Met410Val", "hgvsWellDefined": "NP_001077073.1:p.Met410Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825506623", "coordinates": [ { "allele": "G", "end": 1570, "referenceAllele": "A", "start": 1569 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.1228A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Met410Val", "hgvsWellDefined": "NP_001077074.1:p.Met410Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825509623", "coordinates": [ { "allele": "G", "end": 1669, "referenceAllele": "A", "start": 1668 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.1228A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Met410Val", "hgvsWellDefined": "NP_001077075.1:p.Met410Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825512487", "coordinates": [ { "allele": "G", "end": 1743, "referenceAllele": "A", "start": 1742 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.1228A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Met410Val", "hgvsWellDefined": "NP_001077076.1:p.Met410Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828032527", "coordinates": [ { "allele": "G", "end": 1713, "referenceAllele": "A", "start": 1712 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.1525A>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Met509Val", "hgvsWellDefined": "NP_001341847.1:p.Met509Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "G", "end": 1869, "referenceAllele": "A", "start": 1868 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.1869A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA1139678601", "coordinates": [ { "allele": "G", "end": 2586, "referenceAllele": "A", "start": 2585 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.1681A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Met561Val", "hgvsWellDefined": "NP_000255.2:p.Met561Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1681A>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.1681A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Met561Val" }, "RefSeq": { "hgvs": "NP_000255.2:p.Met561Val" } } } }, { "@id": "http://reg.genome.network/allele/PA2825509623", "coordinates": [ { "allele": "G", "end": 1679, "referenceAllele": "A", "start": 1678 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.1228A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Met410Val", "hgvsWellDefined": "NP_001077075.1:p.Met410Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828032527", "coordinates": [ { "allele": "G", "end": 2430, "referenceAllele": "A", "start": 2429 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.1525A>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Met509Val", "hgvsWellDefined": "NP_001341847.1:p.Met509Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "G", "end": 2586, "referenceAllele": "A", "start": 2585 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.2586A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825488670", "coordinates": [ { "allele": "G", "end": 1983, "referenceAllele": "A", "start": 1982 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.1483A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Met495Val", "hgvsWellDefined": "NP_001077071.1:p.Met495Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825494375", "coordinates": [ { "allele": "G", "end": 1829, "referenceAllele": "A", "start": 1828 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.1678A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Met560Val", "hgvsWellDefined": "NP_001077072.1:p.Met560Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1678A>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1678A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Met560Val" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Met560Val" } } } }, { "@id": "http://reg.genome.network/allele/PA2825501546", "coordinates": [ { "allele": "G", "end": 1587, "referenceAllele": "A", "start": 1586 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.1228A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Met410Val", "hgvsWellDefined": "NP_001077073.1:p.Met410Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825506623", "coordinates": [ { "allele": "G", "end": 1570, "referenceAllele": "A", "start": 1569 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.1228A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Met410Val", "hgvsWellDefined": "NP_001077074.1:p.Met410Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825512487", "coordinates": [ { "allele": "G", "end": 1743, "referenceAllele": "A", "start": 1742 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.1228A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Met410Val", "hgvsWellDefined": "NP_001077076.1:p.Met410Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }