{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5138478", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.1945A>G (p.Ser649Gly)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=475161[alleleid]", "alleleId": 475161, "preferredName": "NM_000264.5(PTCH1):c.1945A>G (p.Ser649Gly)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/486180", "RCV": [ "RCV000701978", "RCV000568417" ], "variationId": 486180 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-98231338-T-C", "id": "9-98231338-T-C", "variant": "9:98231338 T / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98231338T>C?assembly=hg19", "id": "chr9:g.98231338T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95469056T>C?assembly=hg38", "id": "chr9:g.95469056T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/375049109", "rs": 375049109 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98231338-T-C?dataset=gnomad_r2_1", "id": "9-98231338-T-C", "variant": "9:98231338 T / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95469056-T-C?dataset=gnomad_r3", "id": "9-95469056-T-C", "variant": "9:95469056 T / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95469056-T-C?dataset=gnomad_r4", "id": "9-95469056-T-C", "variant": "9:95469056 T / C" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 95469056, "referenceAllele": "T", "start": 95469055 } ], "hgvs": [ "NC_000009.12:g.95469056T>C", "CM000671.2:g.95469056T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 98231338, "referenceAllele": "T", "start": 98231337 } ], "hgvs": [ "NC_000009.11:g.98231338T>C", "CM000671.1:g.98231338T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 97271159, "referenceAllele": "T", "start": 97271158 } ], "hgvs": [ "NC_000009.10:g.97271159T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "G", "end": 52910, "referenceAllele": "A", "start": 52909 } ], "hgvs": [ "NG_007664.1:g.52910A>G", "LRG_515:g.52910A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 2247, "referenceAllele": "A", "start": 2246 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.1747A>G" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Ser583Gly", "hgvsWellDefined": "ENSP00000518556.1:p.Ser583Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "G", "end": 2093, "referenceAllele": "A", "start": 2092 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.1942A>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Ser648Gly", "hgvsWellDefined": "ENSP00000389744.2:p.Ser648Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1942A>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1942A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Ser648Gly" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Ser648Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 1768, "referenceAllele": "A", "start": 1767 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*253A>G" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*253A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "G", "end": 1633, "referenceAllele": "A", "start": 1632 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.1492A>G" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Ser498Gly", "hgvsWellDefined": "ENSP00000510238.1:p.Ser498Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "G", "end": 2850, "referenceAllele": "A", "start": 2849 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.1945A>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Ser649Gly", "hgvsWellDefined": "ENSP00000332353.6:p.Ser649Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1945A>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.1945A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Ser649Gly" }, "RefSeq": { "hgvs": "NP_000255.2:p.Ser649Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 2245, "referenceAllele": "A", "start": 2244 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.1945A>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Ser649Gly", "hgvsWellDefined": "ENSP00000332353.6:p.Ser649Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "G", "end": 940, "referenceAllele": "A", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375271.4:c.940A>G" ], "proteinEffect": { "hgvs": "ENSP00000364420.4:p.Ser314Gly", "hgvsWellDefined": "ENSP00000364420.4:p.Ser314Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS270639" }, { "coordinates": [ { "allele": "G", "end": 2087, "referenceAllele": "A", "start": 2086 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.1942A>G" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Ser648Gly", "hgvsWellDefined": "ENSP00000364423.2:p.Ser648Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "G", "end": 1714, "referenceAllele": "A", "start": 1713 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.1714A>G" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.1714A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "G", "end": 2007, "referenceAllele": "A", "start": 2006 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.1492A>G" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Ser498Gly", "hgvsWellDefined": "ENSP00000396135.1:p.Ser498Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "G", "end": 1851, "referenceAllele": "A", "start": 1850 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.1492A>G" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Ser498Gly", "hgvsWellDefined": "ENSP00000399981.1:p.Ser498Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "G", "end": 1933, "referenceAllele": "A", "start": 1932 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.1492A>G" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Ser498Gly", "hgvsWellDefined": "ENSP00000414823.2:p.Ser498Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "G", "end": 2333, "referenceAllele": "A", "start": 2332 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.1747A>G" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Ser583Gly", "hgvsWellDefined": "ENSP00000410287.2:p.Ser583Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "G", "end": 2241, "referenceAllele": "A", "start": 2240 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.1747A>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Ser583Gly", "hgvsWellDefined": "ENSP00000389744.1:p.Ser583Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "G", "end": 134, "referenceAllele": "A", "start": 133 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000549678.1:n.134A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS367610" }, { "@id": "http://reg.genome.network/allele/PA658677466", "coordinates": [ { "allele": "G", "end": 2133, "referenceAllele": "A", "start": 2132 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.1945A>G", "LRG_515t1:c.1945A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ser649Gly", "hgvsWellDefined": "NP_000255.2:p.Ser649Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825488845", "coordinates": [ { "allele": "G", "end": 2241, "referenceAllele": "A", "start": 2240 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.1747A>G", "LRG_515t2:c.1747A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ser583Gly", "hgvsWellDefined": "NP_001077071.1:p.Ser583Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825494827", "coordinates": [ { "allele": "G", "end": 2087, "referenceAllele": "A", "start": 2086 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.1942A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ser648Gly", "hgvsWellDefined": "NP_001077072.1:p.Ser648Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825502017", "coordinates": [ { "allele": "G", "end": 1851, "referenceAllele": "A", "start": 1850 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.1492A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ser498Gly", "hgvsWellDefined": "NP_001077073.1:p.Ser498Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825506814", "coordinates": [ { "allele": "G", "end": 1834, "referenceAllele": "A", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.1492A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ser498Gly", "hgvsWellDefined": "NP_001077074.1:p.Ser498Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825509811", "coordinates": [ { "allele": "G", "end": 1933, "referenceAllele": "A", "start": 1932 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.1492A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ser498Gly", "hgvsWellDefined": "NP_001077075.1:p.Ser498Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825512678", "coordinates": [ { "allele": "G", "end": 2007, "referenceAllele": "A", "start": 2006 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.1492A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ser498Gly", "hgvsWellDefined": "NP_001077076.1:p.Ser498Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "C", "end": 994, "referenceAllele": "T", "start": 993 } ], "hgvs": [ "NR_038982.1:n.994T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS050659" }, { "coordinates": [ { "allele": "G", "end": 1691, "referenceAllele": "A", "start": 1690 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.1492A>G" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Ser498Gly", "hgvsWellDefined": "XP_005252159.1:p.Ser498Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "G", "end": 1989, "referenceAllele": "A", "start": 1988 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.1789A>G" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Ser597Gly", "hgvsWellDefined": "XP_011517170.1:p.Ser597Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "G", "end": 1640, "referenceAllele": "A", "start": 1639 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.1492A>G" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Ser498Gly", "hgvsWellDefined": "XP_011517171.1:p.Ser498Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "G", "end": 1628, "referenceAllele": "A", "start": 1627 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.1492A>G" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Ser498Gly", "hgvsWellDefined": "XP_011517172.1:p.Ser498Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "G", "end": 1615, "referenceAllele": "A", "start": 1614 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.1492A>G" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Ser498Gly", "hgvsWellDefined": "XP_011517173.1:p.Ser498Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "G", "end": 1598, "referenceAllele": "A", "start": 1597 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.1492A>G" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Ser498Gly", "hgvsWellDefined": "XP_011517174.1:p.Ser498Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "G", "end": 1392, "referenceAllele": "A", "start": 1391 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.1105A>G" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Ser369Gly", "hgvsWellDefined": "XP_011517175.1:p.Ser369Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "G", "end": 2145, "referenceAllele": "A", "start": 2144 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.1945A>G" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Ser649Gly", "hgvsWellDefined": "XP_011517176.1:p.Ser649Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA658677466", "coordinates": [ { "allele": "G", "end": 2133, "referenceAllele": "A", "start": 2132 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.1945A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ser649Gly", "hgvsWellDefined": "NP_000255.2:p.Ser649Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825488845", "coordinates": [ { "allele": "G", "end": 2333, "referenceAllele": "A", "start": 2332 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.1747A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ser583Gly", "hgvsWellDefined": "NP_001077071.1:p.Ser583Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825494827", "coordinates": [ { "allele": "G", "end": 2087, "referenceAllele": "A", "start": 2086 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.1942A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ser648Gly", "hgvsWellDefined": "NP_001077072.1:p.Ser648Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825502017", "coordinates": [ { "allele": "G", "end": 1851, "referenceAllele": "A", "start": 1850 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.1492A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ser498Gly", "hgvsWellDefined": "NP_001077073.1:p.Ser498Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825506814", "coordinates": [ { "allele": "G", "end": 1834, "referenceAllele": "A", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.1492A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ser498Gly", "hgvsWellDefined": "NP_001077074.1:p.Ser498Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825509811", "coordinates": [ { "allele": "G", "end": 1933, "referenceAllele": "A", "start": 1932 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.1492A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ser498Gly", "hgvsWellDefined": "NP_001077075.1:p.Ser498Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825512678", "coordinates": [ { "allele": "G", "end": 2007, "referenceAllele": "A", "start": 2006 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.1492A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ser498Gly", "hgvsWellDefined": "NP_001077076.1:p.Ser498Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828032880", "coordinates": [ { "allele": "G", "end": 1977, "referenceAllele": "A", "start": 1976 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.1789A>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Ser597Gly", "hgvsWellDefined": "NP_001341847.1:p.Ser597Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "G", "end": 2133, "referenceAllele": "A", "start": 2132 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.2133A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA658677466", "coordinates": [ { "allele": "G", "end": 2850, "referenceAllele": "A", "start": 2849 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.1945A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ser649Gly", "hgvsWellDefined": "NP_000255.2:p.Ser649Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1945A>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.1945A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Ser649Gly" }, "RefSeq": { "hgvs": "NP_000255.2:p.Ser649Gly" } } } }, { "@id": "http://reg.genome.network/allele/PA2825509811", "coordinates": [ { "allele": "G", "end": 1943, "referenceAllele": "A", "start": 1942 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.1492A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ser498Gly", "hgvsWellDefined": "NP_001077075.1:p.Ser498Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828032880", "coordinates": [ { "allele": "G", "end": 2694, "referenceAllele": "A", "start": 2693 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.1789A>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Ser597Gly", "hgvsWellDefined": "NP_001341847.1:p.Ser597Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "G", "end": 2850, "referenceAllele": "A", "start": 2849 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.2850A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825488845", "coordinates": [ { "allele": "G", "end": 2247, "referenceAllele": "A", "start": 2246 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.1747A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ser583Gly", "hgvsWellDefined": "NP_001077071.1:p.Ser583Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825494827", "coordinates": [ { "allele": "G", "end": 2093, "referenceAllele": "A", "start": 2092 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.1942A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ser648Gly", "hgvsWellDefined": "NP_001077072.1:p.Ser648Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1942A>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1942A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Ser648Gly" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Ser648Gly" } } } }, { "@id": "http://reg.genome.network/allele/PA2825502017", "coordinates": [ { "allele": "G", "end": 1851, "referenceAllele": "A", "start": 1850 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.1492A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ser498Gly", "hgvsWellDefined": "NP_001077073.1:p.Ser498Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825506814", "coordinates": [ { "allele": "G", "end": 1834, "referenceAllele": "A", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.1492A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ser498Gly", "hgvsWellDefined": "NP_001077074.1:p.Ser498Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825512678", "coordinates": [ { "allele": "G", "end": 2007, "referenceAllele": "A", "start": 2006 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.1492A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ser498Gly", "hgvsWellDefined": "NP_001077076.1:p.Ser498Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }