{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5138620", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.1568G>C (p.Ser523Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=638545[alleleid]", "alleleId": 638545, "preferredName": "NM_000264.5(PTCH1):c.1568G>C (p.Ser523Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/648256", "RCV": [ "RCV000802944", "RCV001012174" ], "variationId": 648256 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-98239075-C-G", "id": "9-98239075-C-G", "variant": "9:98239075 C / G" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98239075C>G?assembly=hg19", "id": "chr9:g.98239075C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95476793C>G?assembly=hg38", "id": "chr9:g.95476793C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/751778283", "rs": 751778283 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98239075-C-G?dataset=gnomad_r2_1", "id": "9-98239075-C-G", "variant": "9:98239075 C / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95476793-C-G?dataset=gnomad_r4", "id": "9-95476793-C-G", "variant": "9:95476793 C / G" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 95476793, "referenceAllele": "C", "start": 95476792 } ], "hgvs": [ "NC_000009.12:g.95476793C>G", "CM000671.2:g.95476793C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 98239075, "referenceAllele": "C", "start": 98239074 } ], "hgvs": [ "NC_000009.11:g.98239075C>G", "CM000671.1:g.98239075C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 97278896, "referenceAllele": "C", "start": 97278895 } ], "hgvs": [ "NC_000009.10:g.97278896C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "C", "end": 45173, "referenceAllele": "G", "start": 45172 } ], "hgvs": [ "NG_007664.1:g.45173G>C", "LRG_515:g.45173G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1870, "referenceAllele": "G", "start": 1869 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.1370G>C" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Ser457Thr", "hgvsWellDefined": "ENSP00000518556.1:p.Ser457Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "C", "end": 1716, "referenceAllele": "G", "start": 1715 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.1565G>C" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Ser522Thr", "hgvsWellDefined": "ENSP00000389744.2:p.Ser522Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1565G>C" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1565G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Ser522Thr" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Ser522Thr" } } } }, { "coordinates": [ { "allele": "C", "end": 1259, "referenceAllele": "G", "start": 1258 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.1115G>C" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:p.Ser372Thr", "hgvsWellDefined": "ENSP00000509379.1:p.Ser372Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "C", "end": 1256, "referenceAllele": "G", "start": 1255 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.1115G>C" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Ser372Thr", "hgvsWellDefined": "ENSP00000510238.1:p.Ser372Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "C", "end": 2473, "referenceAllele": "G", "start": 2472 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.1568G>C" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Ser523Thr", "hgvsWellDefined": "ENSP00000332353.6:p.Ser523Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1568G>C" }, "RefSeq": { "hgvs": "NM_000264.5:c.1568G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Ser523Thr" }, "RefSeq": { "hgvs": "NP_000255.2:p.Ser523Thr" } } } }, { "coordinates": [ { "allele": "C", "end": 1868, "referenceAllele": "G", "start": 1867 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.1568G>C" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Ser523Thr", "hgvsWellDefined": "ENSP00000332353.6:p.Ser523Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "C", "end": 563, "referenceAllele": "G", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375271.4:c.563G>C" ], "proteinEffect": { "hgvs": "ENSP00000364420.4:p.Ser188Thr", "hgvsWellDefined": "ENSP00000364420.4:p.Ser188Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS270639" }, { "coordinates": [ { "allele": "C", "end": 1710, "referenceAllele": "G", "start": 1709 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.1565G>C" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Ser522Thr", "hgvsWellDefined": "ENSP00000364423.2:p.Ser522Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "C", "end": 1205, "referenceAllele": "G", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.1205G>C" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:p.Ser402Thr", "hgvsWellDefined": "ENSP00000364439.2:p.Ser402Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "C", "end": 1630, "referenceAllele": "G", "start": 1629 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.1115G>C" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Ser372Thr", "hgvsWellDefined": "ENSP00000396135.1:p.Ser372Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "C", "end": 1474, "referenceAllele": "G", "start": 1473 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.1115G>C" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Ser372Thr", "hgvsWellDefined": "ENSP00000399981.1:p.Ser372Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "C", "end": 1556, "referenceAllele": "G", "start": 1555 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.1115G>C" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Ser372Thr", "hgvsWellDefined": "ENSP00000414823.2:p.Ser372Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "C", "end": 1956, "referenceAllele": "G", "start": 1955 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.1370G>C" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Ser457Thr", "hgvsWellDefined": "ENSP00000410287.2:p.Ser457Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "C", "end": 1864, "referenceAllele": "G", "start": 1863 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.1370G>C" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Ser457Thr", "hgvsWellDefined": "ENSP00000389744.1:p.Ser457Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "@id": "http://reg.genome.network/allele/PA915958046", "coordinates": [ { "allele": "C", "end": 1756, "referenceAllele": "G", "start": 1755 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.1568G>C", "LRG_515t1:c.1568G>C" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ser523Thr", "hgvsWellDefined": "NP_000255.2:p.Ser523Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825488587", "coordinates": [ { "allele": "C", "end": 1864, "referenceAllele": "G", "start": 1863 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.1370G>C", "LRG_515t2:c.1370G>C" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ser457Thr", "hgvsWellDefined": "NP_001077071.1:p.Ser457Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825494186", "coordinates": [ { "allele": "C", "end": 1710, "referenceAllele": "G", "start": 1709 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.1565G>C" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ser522Thr", "hgvsWellDefined": "NP_001077072.1:p.Ser522Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825501336", "coordinates": [ { "allele": "C", "end": 1474, "referenceAllele": "G", "start": 1473 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.1115G>C" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ser372Thr", "hgvsWellDefined": "NP_001077073.1:p.Ser372Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825506541", "coordinates": [ { "allele": "C", "end": 1457, "referenceAllele": "G", "start": 1456 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.1115G>C" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ser372Thr", "hgvsWellDefined": "NP_001077074.1:p.Ser372Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825509537", "coordinates": [ { "allele": "C", "end": 1556, "referenceAllele": "G", "start": 1555 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.1115G>C" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ser372Thr", "hgvsWellDefined": "NP_001077075.1:p.Ser372Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825512405", "coordinates": [ { "allele": "C", "end": 1630, "referenceAllele": "G", "start": 1629 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.1115G>C" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ser372Thr", "hgvsWellDefined": "NP_001077076.1:p.Ser372Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "C", "end": 1314, "referenceAllele": "G", "start": 1313 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.1115G>C" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Ser372Thr", "hgvsWellDefined": "XP_005252159.1:p.Ser372Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "C", "end": 1612, "referenceAllele": "G", "start": 1611 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.1412G>C" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Ser471Thr", "hgvsWellDefined": "XP_011517170.1:p.Ser471Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "C", "end": 1263, "referenceAllele": "G", "start": 1262 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.1115G>C" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Ser372Thr", "hgvsWellDefined": "XP_011517171.1:p.Ser372Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "C", "end": 1251, "referenceAllele": "G", "start": 1250 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.1115G>C" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Ser372Thr", "hgvsWellDefined": "XP_011517172.1:p.Ser372Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "C", "end": 1238, "referenceAllele": "G", "start": 1237 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.1115G>C" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Ser372Thr", "hgvsWellDefined": "XP_011517173.1:p.Ser372Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "C", "end": 1221, "referenceAllele": "G", "start": 1220 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.1115G>C" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Ser372Thr", "hgvsWellDefined": "XP_011517174.1:p.Ser372Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "C", "end": 1015, "referenceAllele": "G", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.728G>C" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Ser243Thr", "hgvsWellDefined": "XP_011517175.1:p.Ser243Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "C", "end": 1768, "referenceAllele": "G", "start": 1767 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.1568G>C" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Ser523Thr", "hgvsWellDefined": "XP_011517176.1:p.Ser523Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA915958046", "coordinates": [ { "allele": "C", "end": 1756, "referenceAllele": "G", "start": 1755 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.1568G>C" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ser523Thr", "hgvsWellDefined": "NP_000255.2:p.Ser523Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825488587", "coordinates": [ { "allele": "C", "end": 1956, "referenceAllele": "G", "start": 1955 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.1370G>C" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ser457Thr", "hgvsWellDefined": "NP_001077071.1:p.Ser457Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825494186", "coordinates": [ { "allele": "C", "end": 1710, "referenceAllele": "G", "start": 1709 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.1565G>C" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ser522Thr", "hgvsWellDefined": "NP_001077072.1:p.Ser522Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825501336", "coordinates": [ { "allele": "C", "end": 1474, "referenceAllele": "G", "start": 1473 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.1115G>C" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ser372Thr", "hgvsWellDefined": "NP_001077073.1:p.Ser372Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825506541", "coordinates": [ { "allele": "C", "end": 1457, "referenceAllele": "G", "start": 1456 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.1115G>C" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ser372Thr", "hgvsWellDefined": "NP_001077074.1:p.Ser372Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825509537", "coordinates": [ { "allele": "C", "end": 1556, "referenceAllele": "G", "start": 1555 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.1115G>C" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ser372Thr", "hgvsWellDefined": "NP_001077075.1:p.Ser372Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825512405", "coordinates": [ { "allele": "C", "end": 1630, "referenceAllele": "G", "start": 1629 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.1115G>C" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ser372Thr", "hgvsWellDefined": "NP_001077076.1:p.Ser372Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828032410", "coordinates": [ { "allele": "C", "end": 1600, "referenceAllele": "G", "start": 1599 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.1412G>C" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Ser471Thr", "hgvsWellDefined": "NP_001341847.1:p.Ser471Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "C", "end": 1756, "referenceAllele": "G", "start": 1755 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.1756G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA915958046", "coordinates": [ { "allele": "C", "end": 2473, "referenceAllele": "G", "start": 2472 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.1568G>C" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ser523Thr", "hgvsWellDefined": "NP_000255.2:p.Ser523Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1568G>C" }, "RefSeq": { "hgvs": "NM_000264.5:c.1568G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Ser523Thr" }, "RefSeq": { "hgvs": "NP_000255.2:p.Ser523Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA2825509537", "coordinates": [ { "allele": "C", "end": 1566, "referenceAllele": "G", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.1115G>C" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ser372Thr", "hgvsWellDefined": "NP_001077075.1:p.Ser372Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828032410", "coordinates": [ { "allele": "C", "end": 2317, "referenceAllele": "G", "start": 2316 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.1412G>C" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Ser471Thr", "hgvsWellDefined": "NP_001341847.1:p.Ser471Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "C", "end": 2473, "referenceAllele": "G", "start": 2472 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.2473G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825488587", "coordinates": [ { "allele": "C", "end": 1870, "referenceAllele": "G", "start": 1869 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.1370G>C" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ser457Thr", "hgvsWellDefined": "NP_001077071.1:p.Ser457Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825494186", "coordinates": [ { "allele": "C", "end": 1716, "referenceAllele": "G", "start": 1715 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.1565G>C" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ser522Thr", "hgvsWellDefined": "NP_001077072.1:p.Ser522Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1565G>C" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1565G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Ser522Thr" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Ser522Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA2825501336", "coordinates": [ { "allele": "C", "end": 1474, "referenceAllele": "G", "start": 1473 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.1115G>C" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ser372Thr", "hgvsWellDefined": "NP_001077073.1:p.Ser372Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825506541", "coordinates": [ { "allele": "C", "end": 1457, "referenceAllele": "G", "start": 1456 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.1115G>C" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ser372Thr", "hgvsWellDefined": "NP_001077074.1:p.Ser372Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825512405", "coordinates": [ { "allele": "C", "end": 1630, "referenceAllele": "G", "start": 1629 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.1115G>C" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ser372Thr", "hgvsWellDefined": "NP_001077076.1:p.Ser372Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }