{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5138408", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.2348G>A (p.Arg783Gln)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=809574[alleleid]", "alleleId": 809574, "preferredName": "NM_000264.5(PTCH1):c.2348G>A (p.Arg783Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/821133", "RCV": [ "RCV001015250", "RCV001035027" ], "variationId": 821133 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-98229610-C-T", "id": "9-98229610-C-T", "variant": "9:98229610 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98229610C>T?assembly=hg19", "id": "chr9:g.98229610C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95467328C>T?assembly=hg38", "id": "chr9:g.95467328C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/779296683", "rs": 779296683 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98229610-C-T?dataset=gnomad_r2_1", "id": "9-98229610-C-T", "variant": "9:98229610 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95467328-C-T?dataset=gnomad_r3", "id": "9-95467328-C-T", "variant": "9:95467328 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95467328-C-T?dataset=gnomad_r4", "id": "9-95467328-C-T", "variant": "9:95467328 C / T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 95467328, "referenceAllele": "C", "start": 95467327 } ], "hgvs": [ "NC_000009.12:g.95467328C>T", "CM000671.2:g.95467328C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 98229610, "referenceAllele": "C", "start": 98229609 } ], "hgvs": [ "NC_000009.11:g.98229610C>T", "CM000671.1:g.98229610C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 97269431, "referenceAllele": "C", "start": 97269430 } ], "hgvs": [ "NC_000009.10:g.97269431C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 54638, "referenceAllele": "G", "start": 54637 } ], "hgvs": [ "NG_007664.1:g.54638G>A", "LRG_515:g.54638G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2650, "referenceAllele": "G", "start": 2649 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.2150G>A" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Arg717Gln", "hgvsWellDefined": "ENSP00000518556.1:p.Arg717Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "A", "end": 2496, "referenceAllele": "G", "start": 2495 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.2345G>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Arg782Gln", "hgvsWellDefined": "ENSP00000389744.2:p.Arg782Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.2345G>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2345G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Arg782Gln" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Arg782Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 2171, "referenceAllele": "G", "start": 2170 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*656G>A" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*656G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "A", "end": 2036, "referenceAllele": "G", "start": 2035 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.1895G>A" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Arg632Gln", "hgvsWellDefined": "ENSP00000510238.1:p.Arg632Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "A", "end": 3253, "referenceAllele": "G", "start": 3252 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.2348G>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Arg783Gln", "hgvsWellDefined": "ENSP00000332353.6:p.Arg783Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2348G>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.2348G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Arg783Gln" }, "RefSeq": { "hgvs": "NP_000255.2:p.Arg783Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 2648, "referenceAllele": "G", "start": 2647 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.2348G>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Arg783Gln", "hgvsWellDefined": "ENSP00000332353.6:p.Arg783Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "A", "end": 2490, "referenceAllele": "G", "start": 2489 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.2345G>A" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Arg782Gln", "hgvsWellDefined": "ENSP00000364423.2:p.Arg782Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "A", "end": 2117, "referenceAllele": "G", "start": 2116 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.2117G>A" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.2117G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "A", "end": 2410, "referenceAllele": "G", "start": 2409 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.1895G>A" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Arg632Gln", "hgvsWellDefined": "ENSP00000396135.1:p.Arg632Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "A", "end": 2254, "referenceAllele": "G", "start": 2253 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.1895G>A" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Arg632Gln", "hgvsWellDefined": "ENSP00000399981.1:p.Arg632Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "A", "end": 2336, "referenceAllele": "G", "start": 2335 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.1895G>A" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Arg632Gln", "hgvsWellDefined": "ENSP00000414823.2:p.Arg632Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "A", "end": 2736, "referenceAllele": "G", "start": 2735 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.2150G>A" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Arg717Gln", "hgvsWellDefined": "ENSP00000410287.2:p.Arg717Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "A", "end": 2644, "referenceAllele": "G", "start": 2643 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.2150G>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Arg717Gln", "hgvsWellDefined": "ENSP00000389744.1:p.Arg717Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "A", "end": 537, "referenceAllele": "G", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000549678.1:n.537G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS367610" }, { "@id": "http://reg.genome.network/allele/PA915958218", "coordinates": [ { "allele": "A", "end": 2536, "referenceAllele": "G", "start": 2535 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.2348G>A", "LRG_515t1:c.2348G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Arg783Gln", "hgvsWellDefined": "NP_000255.2:p.Arg783Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825487021", "coordinates": [ { "allele": "A", "end": 2644, "referenceAllele": "G", "start": 2643 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.2150G>A", "LRG_515t2:c.2150G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Arg717Gln", "hgvsWellDefined": "NP_001077071.1:p.Arg717Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825495555", "coordinates": [ { "allele": "A", "end": 2490, "referenceAllele": "G", "start": 2489 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.2345G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Arg782Gln", "hgvsWellDefined": "NP_001077072.1:p.Arg782Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825502711", "coordinates": [ { "allele": "A", "end": 2254, "referenceAllele": "G", "start": 2253 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.1895G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Arg632Gln", "hgvsWellDefined": "NP_001077073.1:p.Arg632Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825507131", "coordinates": [ { "allele": "A", "end": 2237, "referenceAllele": "G", "start": 2236 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.1895G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Arg632Gln", "hgvsWellDefined": "NP_001077074.1:p.Arg632Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825510131", "coordinates": [ { "allele": "A", "end": 2336, "referenceAllele": "G", "start": 2335 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.1895G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Arg632Gln", "hgvsWellDefined": "NP_001077075.1:p.Arg632Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825512998", "coordinates": [ { "allele": "A", "end": 2410, "referenceAllele": "G", "start": 2409 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.1895G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Arg632Gln", "hgvsWellDefined": "NP_001077076.1:p.Arg632Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "T", "end": 481, "endIntronDirection": "-", "endIntronOffset": 3, "referenceAllele": "C", "start": 481, "startIntronDirection": "-", "startIntronOffset": 4 } ], "hgvs": [ "NR_038982.1:n.482-4C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS050659" }, { "coordinates": [ { "allele": "A", "end": 2094, "referenceAllele": "G", "start": 2093 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.1895G>A" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Arg632Gln", "hgvsWellDefined": "XP_005252159.1:p.Arg632Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "A", "end": 2392, "referenceAllele": "G", "start": 2391 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.2192G>A" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Arg731Gln", "hgvsWellDefined": "XP_011517170.1:p.Arg731Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "A", "end": 2043, "referenceAllele": "G", "start": 2042 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.1895G>A" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Arg632Gln", "hgvsWellDefined": "XP_011517171.1:p.Arg632Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "A", "end": 2031, "referenceAllele": "G", "start": 2030 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.1895G>A" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Arg632Gln", "hgvsWellDefined": "XP_011517172.1:p.Arg632Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "A", "end": 2018, "referenceAllele": "G", "start": 2017 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.1895G>A" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Arg632Gln", "hgvsWellDefined": "XP_011517173.1:p.Arg632Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "A", "end": 2001, "referenceAllele": "G", "start": 2000 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.1895G>A" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Arg632Gln", "hgvsWellDefined": "XP_011517174.1:p.Arg632Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "A", "end": 1795, "referenceAllele": "G", "start": 1794 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.1508G>A" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Arg503Gln", "hgvsWellDefined": "XP_011517175.1:p.Arg503Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "A", "end": 2548, "referenceAllele": "G", "start": 2547 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.2348G>A" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Arg783Gln", "hgvsWellDefined": "XP_011517176.1:p.Arg783Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA915958218", "coordinates": [ { "allele": "A", "end": 2536, "referenceAllele": "G", "start": 2535 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.2348G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Arg783Gln", "hgvsWellDefined": "NP_000255.2:p.Arg783Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825487021", "coordinates": [ { "allele": "A", "end": 2736, "referenceAllele": "G", "start": 2735 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.2150G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Arg717Gln", "hgvsWellDefined": "NP_001077071.1:p.Arg717Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825495555", "coordinates": [ { "allele": "A", "end": 2490, "referenceAllele": "G", "start": 2489 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.2345G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Arg782Gln", "hgvsWellDefined": "NP_001077072.1:p.Arg782Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825502711", "coordinates": [ { "allele": "A", "end": 2254, "referenceAllele": "G", "start": 2253 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.1895G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Arg632Gln", "hgvsWellDefined": "NP_001077073.1:p.Arg632Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825507131", "coordinates": [ { "allele": "A", "end": 2237, "referenceAllele": "G", "start": 2236 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.1895G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Arg632Gln", "hgvsWellDefined": "NP_001077074.1:p.Arg632Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825510131", "coordinates": [ { "allele": "A", "end": 2336, "referenceAllele": "G", "start": 2335 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.1895G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Arg632Gln", "hgvsWellDefined": "NP_001077075.1:p.Arg632Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825512998", "coordinates": [ { "allele": "A", "end": 2410, "referenceAllele": "G", "start": 2409 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.1895G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Arg632Gln", "hgvsWellDefined": "NP_001077076.1:p.Arg632Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828033352", "coordinates": [ { "allele": "A", "end": 2380, "referenceAllele": "G", "start": 2379 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.2192G>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Arg731Gln", "hgvsWellDefined": "NP_001341847.1:p.Arg731Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "A", "end": 2438, "endIntronDirection": "-", "endIntronOffset": 68, "referenceAllele": "G", "start": 2438, "startIntronDirection": "-", "startIntronOffset": 69 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.2439-69G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA915958218", "coordinates": [ { "allele": "A", "end": 3253, "referenceAllele": "G", "start": 3252 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.2348G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Arg783Gln", "hgvsWellDefined": "NP_000255.2:p.Arg783Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2348G>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.2348G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Arg783Gln" }, "RefSeq": { "hgvs": "NP_000255.2:p.Arg783Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA2825510131", "coordinates": [ { "allele": "A", "end": 2346, "referenceAllele": "G", "start": 2345 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.1895G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Arg632Gln", "hgvsWellDefined": "NP_001077075.1:p.Arg632Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828033352", "coordinates": [ { "allele": "A", "end": 3097, "referenceAllele": "G", "start": 3096 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.2192G>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Arg731Gln", "hgvsWellDefined": "NP_001341847.1:p.Arg731Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "A", "end": 3155, "endIntronDirection": "-", "endIntronOffset": 68, "referenceAllele": "G", "start": 3155, "startIntronDirection": "-", "startIntronOffset": 69 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.3156-69G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825487021", "coordinates": [ { "allele": "A", "end": 2650, "referenceAllele": "G", "start": 2649 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.2150G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Arg717Gln", "hgvsWellDefined": "NP_001077071.1:p.Arg717Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825495555", "coordinates": [ { "allele": "A", "end": 2496, "referenceAllele": "G", "start": 2495 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.2345G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Arg782Gln", "hgvsWellDefined": "NP_001077072.1:p.Arg782Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.2345G>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2345G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Arg782Gln" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Arg782Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA2825502711", "coordinates": [ { "allele": "A", "end": 2254, "referenceAllele": "G", "start": 2253 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.1895G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Arg632Gln", "hgvsWellDefined": "NP_001077073.1:p.Arg632Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825507131", "coordinates": [ { "allele": "A", "end": 2237, "referenceAllele": "G", "start": 2236 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.1895G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Arg632Gln", "hgvsWellDefined": "NP_001077074.1:p.Arg632Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825512998", "coordinates": [ { "allele": "A", "end": 2410, "referenceAllele": "G", "start": 2409 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.1895G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Arg632Gln", "hgvsWellDefined": "NP_001077076.1:p.Arg632Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }