{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374118876", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.1262C>G (p.Ser421Cys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1439523[alleleid]", "alleleId": 1439523, "preferredName": "NM_000264.5(PTCH1):c.1262C>G (p.Ser421Cys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1507112", "RCV": [ "RCV002009324", "RCV003303631" ], "variationId": 1507112 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98240422G>C?assembly=hg19", "id": "chr9:g.98240422G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95478140G>C?assembly=hg38", "id": "chr9:g.95478140G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1285775586", "rs": 1285775586 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98240422-G-C?dataset=gnomad_r2_1", "id": "9-98240422-G-C", "variant": "9:98240422 G / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95478140-G-C?dataset=gnomad_r3", "id": "9-95478140-G-C", "variant": "9:95478140 G / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95478140-G-C?dataset=gnomad_r4", "id": "9-95478140-G-C", "variant": "9:95478140 G / C" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 95478140, "referenceAllele": "G", "start": 95478139 } ], "hgvs": [ "NC_000009.12:g.95478140G>C", "CM000671.2:g.95478140G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 98240422, "referenceAllele": "G", "start": 98240421 } ], "hgvs": [ "NC_000009.11:g.98240422G>C", "CM000671.1:g.98240422G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 97280243, "referenceAllele": "G", "start": 97280242 } ], "hgvs": [ "NC_000009.10:g.97280243G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "G", "end": 43826, "referenceAllele": "C", "start": 43825 } ], "hgvs": [ "NG_007664.1:g.43826C>G", "LRG_515:g.43826C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1564, "referenceAllele": "C", "start": 1563 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.1064C>G" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Ser355Cys", "hgvsWellDefined": "ENSP00000518556.1:p.Ser355Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "G", "end": 1410, "referenceAllele": "C", "start": 1409 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.1259C>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Ser420Cys", "hgvsWellDefined": "ENSP00000389744.2:p.Ser420Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1259C>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1259C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Ser420Cys" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Ser420Cys" } } } }, { "coordinates": [ { "allele": "G", "end": 953, "referenceAllele": "C", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.809C>G" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:p.Ser270Cys", "hgvsWellDefined": "ENSP00000509379.1:p.Ser270Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "G", "end": 950, "referenceAllele": "C", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.809C>G" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Ser270Cys", "hgvsWellDefined": "ENSP00000510238.1:p.Ser270Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "G", "end": 2167, "referenceAllele": "C", "start": 2166 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.1262C>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Ser421Cys", "hgvsWellDefined": "ENSP00000332353.6:p.Ser421Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1262C>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.1262C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Ser421Cys" }, "RefSeq": { "hgvs": "NP_000255.2:p.Ser421Cys" } } } }, { "coordinates": [ { "allele": "G", "end": 1562, "referenceAllele": "C", "start": 1561 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.1262C>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Ser421Cys", "hgvsWellDefined": "ENSP00000332353.6:p.Ser421Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "G", "end": 413, "referenceAllele": "C", "start": 412 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375271.4:c.413C>G" ], "proteinEffect": { "hgvs": "ENSP00000364420.4:p.Ser138Cys", "hgvsWellDefined": "ENSP00000364420.4:p.Ser138Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS270639" }, { "coordinates": [ { "allele": "G", "end": 1404, "referenceAllele": "C", "start": 1403 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.1259C>G" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Ser420Cys", "hgvsWellDefined": "ENSP00000364423.2:p.Ser420Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "G", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.899C>G" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:p.Ser300Cys", "hgvsWellDefined": "ENSP00000364439.2:p.Ser300Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "G", "end": 1324, "referenceAllele": "C", "start": 1323 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.809C>G" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Ser270Cys", "hgvsWellDefined": "ENSP00000396135.1:p.Ser270Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "G", "end": 1168, "referenceAllele": "C", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.809C>G" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Ser270Cys", "hgvsWellDefined": "ENSP00000399981.1:p.Ser270Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "G", "end": 1250, "referenceAllele": "C", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.809C>G" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Ser270Cys", "hgvsWellDefined": "ENSP00000414823.2:p.Ser270Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "G", "end": 1650, "referenceAllele": "C", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.1064C>G" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Ser355Cys", "hgvsWellDefined": "ENSP00000410287.2:p.Ser355Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "G", "end": 1558, "referenceAllele": "C", "start": 1557 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.1064C>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Ser355Cys", "hgvsWellDefined": "ENSP00000389744.1:p.Ser355Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "@id": "http://reg.genome.network/allele/PA2825119923", "coordinates": [ { "allele": "G", "end": 1450, "referenceAllele": "C", "start": 1449 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.1262C>G", "LRG_515t1:c.1262C>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ser421Cys", "hgvsWellDefined": "NP_000255.2:p.Ser421Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825488369", "coordinates": [ { "allele": "G", "end": 1558, "referenceAllele": "C", "start": 1557 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.1064C>G", "LRG_515t2:c.1064C>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ser355Cys", "hgvsWellDefined": "NP_001077071.1:p.Ser355Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825493385", "coordinates": [ { "allele": "G", "end": 1404, "referenceAllele": "C", "start": 1403 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.1259C>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ser420Cys", "hgvsWellDefined": "NP_001077072.1:p.Ser420Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825500636", "coordinates": [ { "allele": "G", "end": 1168, "referenceAllele": "C", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.809C>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ser270Cys", "hgvsWellDefined": "NP_001077073.1:p.Ser270Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825506323", "coordinates": [ { "allele": "G", "end": 1151, "referenceAllele": "C", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.809C>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ser270Cys", "hgvsWellDefined": "NP_001077074.1:p.Ser270Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825509320", "coordinates": [ { "allele": "G", "end": 1250, "referenceAllele": "C", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.809C>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ser270Cys", "hgvsWellDefined": "NP_001077075.1:p.Ser270Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825512187", "coordinates": [ { "allele": "G", "end": 1324, "referenceAllele": "C", "start": 1323 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.809C>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ser270Cys", "hgvsWellDefined": "NP_001077076.1:p.Ser270Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "G", "end": 1008, "referenceAllele": "C", "start": 1007 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.809C>G" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Ser270Cys", "hgvsWellDefined": "XP_005252159.1:p.Ser270Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "G", "end": 1462, "referenceAllele": "C", "start": 1461 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.1262C>G" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Ser421Cys", "hgvsWellDefined": "XP_011517170.1:p.Ser421Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "G", "end": 957, "referenceAllele": "C", "start": 956 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.809C>G" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Ser270Cys", "hgvsWellDefined": "XP_011517171.1:p.Ser270Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "G", "end": 945, "referenceAllele": "C", "start": 944 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.809C>G" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Ser270Cys", "hgvsWellDefined": "XP_011517172.1:p.Ser270Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "G", "end": 932, "referenceAllele": "C", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.809C>G" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Ser270Cys", "hgvsWellDefined": "XP_011517173.1:p.Ser270Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "G", "end": 915, "referenceAllele": "C", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.809C>G" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Ser270Cys", "hgvsWellDefined": "XP_011517174.1:p.Ser270Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "G", "end": 709, "referenceAllele": "C", "start": 708 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.422C>G" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Ser141Cys", "hgvsWellDefined": "XP_011517175.1:p.Ser141Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "G", "end": 1462, "referenceAllele": "C", "start": 1461 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.1262C>G" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Ser421Cys", "hgvsWellDefined": "XP_011517176.1:p.Ser421Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA2825119923", "coordinates": [ { "allele": "G", "end": 1450, "referenceAllele": "C", "start": 1449 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.1262C>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ser421Cys", "hgvsWellDefined": "NP_000255.2:p.Ser421Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825488369", "coordinates": [ { "allele": "G", "end": 1650, "referenceAllele": "C", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.1064C>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ser355Cys", "hgvsWellDefined": "NP_001077071.1:p.Ser355Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825493385", "coordinates": [ { "allele": "G", "end": 1404, "referenceAllele": "C", "start": 1403 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.1259C>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ser420Cys", "hgvsWellDefined": "NP_001077072.1:p.Ser420Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825500636", "coordinates": [ { "allele": "G", "end": 1168, "referenceAllele": "C", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.809C>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ser270Cys", "hgvsWellDefined": "NP_001077073.1:p.Ser270Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825506323", "coordinates": [ { "allele": "G", "end": 1151, "referenceAllele": "C", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.809C>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ser270Cys", "hgvsWellDefined": "NP_001077074.1:p.Ser270Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825509320", "coordinates": [ { "allele": "G", "end": 1250, "referenceAllele": "C", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.809C>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ser270Cys", "hgvsWellDefined": "NP_001077075.1:p.Ser270Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825512187", "coordinates": [ { "allele": "G", "end": 1324, "referenceAllele": "C", "start": 1323 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.809C>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ser270Cys", "hgvsWellDefined": "NP_001077076.1:p.Ser270Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2573206604", "coordinates": [ { "allele": "G", "end": 1450, "referenceAllele": "C", "start": 1449 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.1262C>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Ser421Cys", "hgvsWellDefined": "NP_001341847.1:p.Ser421Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "G", "end": 1450, "referenceAllele": "C", "start": 1449 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.1450C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA2825119923", "coordinates": [ { "allele": "G", "end": 2167, "referenceAllele": "C", "start": 2166 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.1262C>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ser421Cys", "hgvsWellDefined": "NP_000255.2:p.Ser421Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1262C>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.1262C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Ser421Cys" }, "RefSeq": { "hgvs": "NP_000255.2:p.Ser421Cys" } } } }, { "@id": "http://reg.genome.network/allele/PA2825509320", "coordinates": [ { "allele": "G", "end": 1260, "referenceAllele": "C", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.809C>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ser270Cys", "hgvsWellDefined": "NP_001077075.1:p.Ser270Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2573206604", "coordinates": [ { "allele": "G", "end": 2167, "referenceAllele": "C", "start": 2166 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.1262C>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Ser421Cys", "hgvsWellDefined": "NP_001341847.1:p.Ser421Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "G", "end": 2167, "referenceAllele": "C", "start": 2166 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.2167C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825488369", "coordinates": [ { "allele": "G", "end": 1564, "referenceAllele": "C", "start": 1563 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.1064C>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ser355Cys", "hgvsWellDefined": "NP_001077071.1:p.Ser355Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825493385", "coordinates": [ { "allele": "G", "end": 1410, "referenceAllele": "C", "start": 1409 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.1259C>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ser420Cys", "hgvsWellDefined": "NP_001077072.1:p.Ser420Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1259C>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1259C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Ser420Cys" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Ser420Cys" } } } }, { "@id": "http://reg.genome.network/allele/PA2825500636", "coordinates": [ { "allele": "G", "end": 1168, "referenceAllele": "C", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.809C>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ser270Cys", "hgvsWellDefined": "NP_001077073.1:p.Ser270Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825506323", "coordinates": [ { "allele": "G", "end": 1151, "referenceAllele": "C", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.809C>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ser270Cys", "hgvsWellDefined": "NP_001077074.1:p.Ser270Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825512187", "coordinates": [ { "allele": "G", "end": 1324, "referenceAllele": "C", "start": 1323 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.809C>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ser270Cys", "hgvsWellDefined": "NP_001077076.1:p.Ser270Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }