{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374119409", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.1126T>C (p.Phe376Leu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2085278[alleleid]", "alleleId": 2085278, "preferredName": "NM_000264.5(PTCH1):c.1126T>C (p.Phe376Leu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2028643", "RCV": [ "RCV002863572" ], "variationId": 2028643 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98241371A>G?assembly=hg19", "id": "chr9:g.98241371A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95479089A>G?assembly=hg38", "id": "chr9:g.95479089A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2538217391", "rs": 2538217391 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 95479089, "referenceAllele": "A", "start": 95479088 } ], "hgvs": [ "NC_000009.12:g.95479089A>G", "CM000671.2:g.95479089A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 98241371, "referenceAllele": "A", "start": 98241370 } ], "hgvs": [ "NC_000009.11:g.98241371A>G", "CM000671.1:g.98241371A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 97281192, "referenceAllele": "A", "start": 97281191 } ], "hgvs": [ "NC_000009.10:g.97281192A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "C", "end": 42877, "referenceAllele": "T", "start": 42876 } ], "hgvs": [ "NG_007664.1:g.42877T>C", "LRG_515:g.42877T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1428, "referenceAllele": "T", "start": 1427 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.928T>C" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Phe310Leu", "hgvsWellDefined": "ENSP00000518556.1:p.Phe310Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "C", "end": 1274, "referenceAllele": "T", "start": 1273 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.1123T>C" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Phe375Leu", "hgvsWellDefined": "ENSP00000389744.2:p.Phe375Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1123T>C" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1123T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Phe375Leu" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Phe375Leu" } } } }, { "coordinates": [ { "allele": "C", "end": 817, "referenceAllele": "T", "start": 816 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.673T>C" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:p.Phe225Leu", "hgvsWellDefined": "ENSP00000509379.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "C", "end": 814, "referenceAllele": "T", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.673T>C" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Phe225Leu", "hgvsWellDefined": "ENSP00000510238.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "C", "end": 2031, "referenceAllele": "T", "start": 2030 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.1126T>C" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Phe376Leu", "hgvsWellDefined": "ENSP00000332353.6:p.Phe376Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1126T>C" }, "RefSeq": { "hgvs": "NM_000264.5:c.1126T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Phe376Leu" }, "RefSeq": { "hgvs": "NP_000255.2:p.Phe376Leu" } } } }, { "coordinates": [ { "allele": "C", "end": 1426, "referenceAllele": "T", "start": 1425 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.1126T>C" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Phe376Leu", "hgvsWellDefined": "ENSP00000332353.6:p.Phe376Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "C", "end": 277, "referenceAllele": "T", "start": 276 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375271.4:c.277T>C" ], "proteinEffect": { "hgvs": "ENSP00000364420.4:p.Phe93Leu", "hgvsWellDefined": "ENSP00000364420.4:p.Phe93Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS270639" }, { "coordinates": [ { "allele": "C", "end": 1268, "referenceAllele": "T", "start": 1267 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.1123T>C" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Phe375Leu", "hgvsWellDefined": "ENSP00000364423.2:p.Phe375Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "C", "end": 763, "referenceAllele": "T", "start": 762 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.763T>C" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:p.Phe255Leu", "hgvsWellDefined": "ENSP00000364439.2:p.Phe255Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "C", "end": 1188, "referenceAllele": "T", "start": 1187 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.673T>C" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Phe225Leu", "hgvsWellDefined": "ENSP00000396135.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "C", "end": 1032, "referenceAllele": "T", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.673T>C" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Phe225Leu", "hgvsWellDefined": "ENSP00000399981.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "C", "end": 1114, "referenceAllele": "T", "start": 1113 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.673T>C" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Phe225Leu", "hgvsWellDefined": "ENSP00000414823.2:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "C", "end": 1514, "referenceAllele": "T", "start": 1513 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.928T>C" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Phe310Leu", "hgvsWellDefined": "ENSP00000410287.2:p.Phe310Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "C", "end": 1422, "referenceAllele": "T", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.928T>C" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Phe310Leu", "hgvsWellDefined": "ENSP00000389744.1:p.Phe310Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "@id": "http://reg.genome.network/allele/PA337682", "coordinates": [ { "allele": "C", "end": 1314, "referenceAllele": "T", "start": 1313 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.1126T>C", "LRG_515t1:c.1126T>C" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Phe376Leu", "hgvsWellDefined": "NP_000255.2:p.Phe376Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA337681", "coordinates": [ { "allele": "C", "end": 1422, "referenceAllele": "T", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.928T>C", "LRG_515t2:c.928T>C" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Phe310Leu", "hgvsWellDefined": "NP_001077071.1:p.Phe310Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825493135", "coordinates": [ { "allele": "C", "end": 1268, "referenceAllele": "T", "start": 1267 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.1123T>C" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Phe375Leu", "hgvsWellDefined": "NP_001077072.1:p.Phe375Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825500418", "coordinates": [ { "allele": "C", "end": 1032, "referenceAllele": "T", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.673T>C" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Phe225Leu", "hgvsWellDefined": "NP_001077073.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825506227", "coordinates": [ { "allele": "C", "end": 1015, "referenceAllele": "T", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.673T>C" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Phe225Leu", "hgvsWellDefined": "NP_001077074.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825509224", "coordinates": [ { "allele": "C", "end": 1114, "referenceAllele": "T", "start": 1113 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.673T>C" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Phe225Leu", "hgvsWellDefined": "NP_001077075.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825512091", "coordinates": [ { "allele": "C", "end": 1188, "referenceAllele": "T", "start": 1187 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.673T>C" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Phe225Leu", "hgvsWellDefined": "NP_001077076.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "C", "end": 872, "referenceAllele": "T", "start": 871 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.673T>C" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Phe225Leu", "hgvsWellDefined": "XP_005252159.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "C", "end": 1326, "referenceAllele": "T", "start": 1325 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.1126T>C" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Phe376Leu", "hgvsWellDefined": "XP_011517170.1:p.Phe376Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "C", "end": 821, "referenceAllele": "T", "start": 820 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.673T>C" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Phe225Leu", "hgvsWellDefined": "XP_011517171.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "C", "end": 809, "referenceAllele": "T", "start": 808 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.673T>C" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Phe225Leu", "hgvsWellDefined": "XP_011517172.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "C", "end": 796, "referenceAllele": "T", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.673T>C" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Phe225Leu", "hgvsWellDefined": "XP_011517173.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "C", "end": 779, "referenceAllele": "T", "start": 778 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.673T>C" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Phe225Leu", "hgvsWellDefined": "XP_011517174.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "C", "end": 573, "referenceAllele": "T", "start": 572 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.286T>C" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Phe96Leu", "hgvsWellDefined": "XP_011517175.1:p.Phe96Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "C", "end": 1326, "referenceAllele": "T", "start": 1325 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.1126T>C" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Phe376Leu", "hgvsWellDefined": "XP_011517176.1:p.Phe376Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA337682", "coordinates": [ { "allele": "C", "end": 1314, "referenceAllele": "T", "start": 1313 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.1126T>C" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Phe376Leu", "hgvsWellDefined": "NP_000255.2:p.Phe376Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA337681", "coordinates": [ { "allele": "C", "end": 1514, "referenceAllele": "T", "start": 1513 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.928T>C" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Phe310Leu", "hgvsWellDefined": "NP_001077071.1:p.Phe310Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825493135", "coordinates": [ { "allele": "C", "end": 1268, "referenceAllele": "T", "start": 1267 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.1123T>C" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Phe375Leu", "hgvsWellDefined": "NP_001077072.1:p.Phe375Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825500418", "coordinates": [ { "allele": "C", "end": 1032, "referenceAllele": "T", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.673T>C" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Phe225Leu", "hgvsWellDefined": "NP_001077073.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825506227", "coordinates": [ { "allele": "C", "end": 1015, "referenceAllele": "T", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.673T>C" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Phe225Leu", "hgvsWellDefined": "NP_001077074.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825509224", "coordinates": [ { "allele": "C", "end": 1114, "referenceAllele": "T", "start": 1113 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.673T>C" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Phe225Leu", "hgvsWellDefined": "NP_001077075.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825512091", "coordinates": [ { "allele": "C", "end": 1188, "referenceAllele": "T", "start": 1187 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.673T>C" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Phe225Leu", "hgvsWellDefined": "NP_001077076.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA916042898", "coordinates": [ { "allele": "C", "end": 1314, "referenceAllele": "T", "start": 1313 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.1126T>C" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Phe376Leu", "hgvsWellDefined": "NP_001341847.1:p.Phe376Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "C", "end": 1314, "referenceAllele": "T", "start": 1313 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.1314T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA337682", "coordinates": [ { "allele": "C", "end": 2031, "referenceAllele": "T", "start": 2030 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.1126T>C" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Phe376Leu", "hgvsWellDefined": "NP_000255.2:p.Phe376Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1126T>C" }, "RefSeq": { "hgvs": "NM_000264.5:c.1126T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Phe376Leu" }, "RefSeq": { "hgvs": "NP_000255.2:p.Phe376Leu" } } } }, { "@id": "http://reg.genome.network/allele/PA2825509224", "coordinates": [ { "allele": "C", "end": 1124, "referenceAllele": "T", "start": 1123 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.673T>C" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Phe225Leu", "hgvsWellDefined": "NP_001077075.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA916042898", "coordinates": [ { "allele": "C", "end": 2031, "referenceAllele": "T", "start": 2030 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.1126T>C" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Phe376Leu", "hgvsWellDefined": "NP_001341847.1:p.Phe376Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "C", "end": 2031, "referenceAllele": "T", "start": 2030 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.2031T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA337681", "coordinates": [ { "allele": "C", "end": 1428, "referenceAllele": "T", "start": 1427 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.928T>C" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Phe310Leu", "hgvsWellDefined": "NP_001077071.1:p.Phe310Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825493135", "coordinates": [ { "allele": "C", "end": 1274, "referenceAllele": "T", "start": 1273 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.1123T>C" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Phe375Leu", "hgvsWellDefined": "NP_001077072.1:p.Phe375Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1123T>C" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1123T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Phe375Leu" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Phe375Leu" } } } }, { "@id": "http://reg.genome.network/allele/PA2825500418", "coordinates": [ { "allele": "C", "end": 1032, "referenceAllele": "T", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.673T>C" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Phe225Leu", "hgvsWellDefined": "NP_001077073.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825506227", "coordinates": [ { "allele": "C", "end": 1015, "referenceAllele": "T", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.673T>C" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Phe225Leu", "hgvsWellDefined": "NP_001077074.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825512091", "coordinates": [ { "allele": "C", "end": 1188, "referenceAllele": "T", "start": 1187 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.673T>C" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Phe225Leu", "hgvsWellDefined": "NP_001077076.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }