{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374115928", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.1972A>G (p.Met658Val)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=925676[alleleid]", "alleleId": 925676, "preferredName": "NM_000264.5(PTCH1):c.1972A>G (p.Met658Val)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/950267", "RCV": [ "RCV001221948", "RCV003462753", "RCV004032431" ], "variationId": 950267 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98231311T>C?assembly=hg19", "id": "chr9:g.98231311T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95469029T>C?assembly=hg38", "id": "chr9:g.95469029T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1448553293", "rs": 1448553293 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98231311-T-C?dataset=gnomad_r2_1", "id": "9-98231311-T-C", "variant": "9:98231311 T / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95469029-T-C?dataset=gnomad_r4", "id": "9-95469029-T-C", "variant": "9:95469029 T / C" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 95469029, "referenceAllele": "T", "start": 95469028 } ], "hgvs": [ "NC_000009.12:g.95469029T>C", "CM000671.2:g.95469029T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 98231311, "referenceAllele": "T", "start": 98231310 } ], "hgvs": [ "NC_000009.11:g.98231311T>C", "CM000671.1:g.98231311T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 97271132, "referenceAllele": "T", "start": 97271131 } ], "hgvs": [ "NC_000009.10:g.97271132T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "G", "end": 52937, "referenceAllele": "A", "start": 52936 } ], "hgvs": [ "NG_007664.1:g.52937A>G", "LRG_515:g.52937A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 2274, "referenceAllele": "A", "start": 2273 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.1774A>G" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Met592Val", "hgvsWellDefined": "ENSP00000518556.1:p.Met592Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "G", "end": 2120, "referenceAllele": "A", "start": 2119 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.1969A>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Met657Val", "hgvsWellDefined": "ENSP00000389744.2:p.Met657Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1969A>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1969A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Met657Val" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Met657Val" } } } }, { "coordinates": [ { "allele": "G", "end": 1795, "referenceAllele": "A", "start": 1794 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*280A>G" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*280A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "G", "end": 1660, "referenceAllele": "A", "start": 1659 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.1519A>G" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Met507Val", "hgvsWellDefined": "ENSP00000510238.1:p.Met507Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "G", "end": 2877, "referenceAllele": "A", "start": 2876 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.1972A>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Met658Val", "hgvsWellDefined": "ENSP00000332353.6:p.Met658Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1972A>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.1972A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Met658Val" }, "RefSeq": { "hgvs": "NP_000255.2:p.Met658Val" } } } }, { "coordinates": [ { "allele": "G", "end": 2272, "referenceAllele": "A", "start": 2271 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.1972A>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Met658Val", "hgvsWellDefined": "ENSP00000332353.6:p.Met658Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "G", "end": 967, "referenceAllele": "A", "start": 966 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375271.4:c.967A>G" ], "proteinEffect": { "hgvs": "ENSP00000364420.4:p.Met323Val", "hgvsWellDefined": "ENSP00000364420.4:p.Met323Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS270639" }, { "coordinates": [ { "allele": "G", "end": 2114, "referenceAllele": "A", "start": 2113 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.1969A>G" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Met657Val", "hgvsWellDefined": "ENSP00000364423.2:p.Met657Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "G", "end": 1741, "referenceAllele": "A", "start": 1740 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.1741A>G" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.1741A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "G", "end": 2034, "referenceAllele": "A", "start": 2033 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.1519A>G" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Met507Val", "hgvsWellDefined": "ENSP00000396135.1:p.Met507Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "G", "end": 1878, "referenceAllele": "A", "start": 1877 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.1519A>G" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Met507Val", "hgvsWellDefined": "ENSP00000399981.1:p.Met507Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "G", "end": 1960, "referenceAllele": "A", "start": 1959 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.1519A>G" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Met507Val", "hgvsWellDefined": "ENSP00000414823.2:p.Met507Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "G", "end": 2360, "referenceAllele": "A", "start": 2359 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.1774A>G" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Met592Val", "hgvsWellDefined": "ENSP00000410287.2:p.Met592Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "G", "end": 2268, "referenceAllele": "A", "start": 2267 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.1774A>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Met592Val", "hgvsWellDefined": "ENSP00000389744.1:p.Met592Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "G", "end": 161, "referenceAllele": "A", "start": 160 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000549678.1:n.161A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS367610" }, { "@id": "http://reg.genome.network/allele/PA1139678733", "coordinates": [ { "allele": "G", "end": 2160, "referenceAllele": "A", "start": 2159 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.1972A>G", "LRG_515t1:c.1972A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Met658Val", "hgvsWellDefined": "NP_000255.2:p.Met658Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825488859", "coordinates": [ { "allele": "G", "end": 2268, "referenceAllele": "A", "start": 2267 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.1774A>G", "LRG_515t2:c.1774A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Met592Val", "hgvsWellDefined": "NP_001077071.1:p.Met592Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825494866", "coordinates": [ { "allele": "G", "end": 2114, "referenceAllele": "A", "start": 2113 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.1969A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Met657Val", "hgvsWellDefined": "NP_001077072.1:p.Met657Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825502049", "coordinates": [ { "allele": "G", "end": 1878, "referenceAllele": "A", "start": 1877 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.1519A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Met507Val", "hgvsWellDefined": "NP_001077073.1:p.Met507Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825506825", "coordinates": [ { "allele": "G", "end": 1861, "referenceAllele": "A", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.1519A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Met507Val", "hgvsWellDefined": "NP_001077074.1:p.Met507Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825509823", "coordinates": [ { "allele": "G", "end": 1960, "referenceAllele": "A", "start": 1959 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.1519A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Met507Val", "hgvsWellDefined": "NP_001077075.1:p.Met507Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825512690", "coordinates": [ { "allele": "G", "end": 2034, "referenceAllele": "A", "start": 2033 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.1519A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Met507Val", "hgvsWellDefined": "NP_001077076.1:p.Met507Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "C", "end": 967, "referenceAllele": "T", "start": 966 } ], "hgvs": [ "NR_038982.1:n.967T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS050659" }, { "coordinates": [ { "allele": "G", "end": 1718, "referenceAllele": "A", "start": 1717 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.1519A>G" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Met507Val", "hgvsWellDefined": "XP_005252159.1:p.Met507Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "G", "end": 2016, "referenceAllele": "A", "start": 2015 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.1816A>G" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Met606Val", "hgvsWellDefined": "XP_011517170.1:p.Met606Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "G", "end": 1667, "referenceAllele": "A", "start": 1666 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.1519A>G" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Met507Val", "hgvsWellDefined": "XP_011517171.1:p.Met507Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "G", "end": 1655, "referenceAllele": "A", "start": 1654 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.1519A>G" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Met507Val", "hgvsWellDefined": "XP_011517172.1:p.Met507Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "G", "end": 1642, "referenceAllele": "A", "start": 1641 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.1519A>G" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Met507Val", "hgvsWellDefined": "XP_011517173.1:p.Met507Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "G", "end": 1625, "referenceAllele": "A", "start": 1624 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.1519A>G" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Met507Val", "hgvsWellDefined": "XP_011517174.1:p.Met507Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "G", "end": 1419, "referenceAllele": "A", "start": 1418 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.1132A>G" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Met378Val", "hgvsWellDefined": "XP_011517175.1:p.Met378Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "G", "end": 2172, "referenceAllele": "A", "start": 2171 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.1972A>G" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Met658Val", "hgvsWellDefined": "XP_011517176.1:p.Met658Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA1139678733", "coordinates": [ { "allele": "G", "end": 2160, "referenceAllele": "A", "start": 2159 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.1972A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Met658Val", "hgvsWellDefined": "NP_000255.2:p.Met658Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825488859", "coordinates": [ { "allele": "G", "end": 2360, "referenceAllele": "A", "start": 2359 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.1774A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Met592Val", "hgvsWellDefined": "NP_001077071.1:p.Met592Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825494866", "coordinates": [ { "allele": "G", "end": 2114, "referenceAllele": "A", "start": 2113 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.1969A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Met657Val", "hgvsWellDefined": "NP_001077072.1:p.Met657Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825502049", "coordinates": [ { "allele": "G", "end": 1878, "referenceAllele": "A", "start": 1877 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.1519A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Met507Val", "hgvsWellDefined": "NP_001077073.1:p.Met507Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825506825", "coordinates": [ { "allele": "G", "end": 1861, "referenceAllele": "A", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.1519A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Met507Val", "hgvsWellDefined": "NP_001077074.1:p.Met507Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825509823", "coordinates": [ { "allele": "G", "end": 1960, "referenceAllele": "A", "start": 1959 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.1519A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Met507Val", "hgvsWellDefined": "NP_001077075.1:p.Met507Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825512690", "coordinates": [ { "allele": "G", "end": 2034, "referenceAllele": "A", "start": 2033 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.1519A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Met507Val", "hgvsWellDefined": "NP_001077076.1:p.Met507Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828032907", "coordinates": [ { "allele": "G", "end": 2004, "referenceAllele": "A", "start": 2003 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.1816A>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Met606Val", "hgvsWellDefined": "NP_001341847.1:p.Met606Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "G", "end": 2160, "referenceAllele": "A", "start": 2159 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.2160A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA1139678733", "coordinates": [ { "allele": "G", "end": 2877, "referenceAllele": "A", "start": 2876 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.1972A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Met658Val", "hgvsWellDefined": "NP_000255.2:p.Met658Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1972A>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.1972A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Met658Val" }, "RefSeq": { "hgvs": "NP_000255.2:p.Met658Val" } } } }, { "@id": "http://reg.genome.network/allele/PA2825509823", "coordinates": [ { "allele": "G", "end": 1970, "referenceAllele": "A", "start": 1969 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.1519A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Met507Val", "hgvsWellDefined": "NP_001077075.1:p.Met507Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828032907", "coordinates": [ { "allele": "G", "end": 2721, "referenceAllele": "A", "start": 2720 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.1816A>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Met606Val", "hgvsWellDefined": "NP_001341847.1:p.Met606Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "G", "end": 2877, "referenceAllele": "A", "start": 2876 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.2877A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825488859", "coordinates": [ { "allele": "G", "end": 2274, "referenceAllele": "A", "start": 2273 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.1774A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Met592Val", "hgvsWellDefined": "NP_001077071.1:p.Met592Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825494866", "coordinates": [ { "allele": "G", "end": 2120, "referenceAllele": "A", "start": 2119 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.1969A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Met657Val", "hgvsWellDefined": "NP_001077072.1:p.Met657Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1969A>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1969A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Met657Val" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Met657Val" } } } }, { "@id": "http://reg.genome.network/allele/PA2825502049", "coordinates": [ { "allele": "G", "end": 1878, "referenceAllele": "A", "start": 1877 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.1519A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Met507Val", "hgvsWellDefined": "NP_001077073.1:p.Met507Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825506825", "coordinates": [ { "allele": "G", "end": 1861, "referenceAllele": "A", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.1519A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Met507Val", "hgvsWellDefined": "NP_001077074.1:p.Met507Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825512690", "coordinates": [ { "allele": "G", "end": 2034, "referenceAllele": "A", "start": 2033 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.1519A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Met507Val", "hgvsWellDefined": "NP_001077076.1:p.Met507Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }