{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374114587", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.2328C>G (p.Asp776Glu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=638523[alleleid]", "alleleId": 638523, "preferredName": "NM_000264.5(PTCH1):c.2328C>G (p.Asp776Glu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/642377", "RCV": [ "RCV000795832", "RCV001015201" ], "variationId": 642377 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98229630G>C?assembly=hg19", "id": "chr9:g.98229630G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95467348G>C?assembly=hg38", "id": "chr9:g.95467348G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/923429610", "rs": 923429610 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95467348-G-C?dataset=gnomad_r4", "id": "9-95467348-G-C", "variant": "9:95467348 G / C" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 95467348, "referenceAllele": "G", "start": 95467347 } ], "hgvs": [ "NC_000009.12:g.95467348G>C", "CM000671.2:g.95467348G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 98229630, "referenceAllele": "G", "start": 98229629 } ], "hgvs": [ "NC_000009.11:g.98229630G>C", "CM000671.1:g.98229630G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 97269451, "referenceAllele": "G", "start": 97269450 } ], "hgvs": [ "NC_000009.10:g.97269451G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "G", "end": 54618, "referenceAllele": "C", "start": 54617 } ], "hgvs": [ "NG_007664.1:g.54618C>G", "LRG_515:g.54618C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 2630, "referenceAllele": "C", "start": 2629 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.2130C>G" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Asp710Glu", "hgvsWellDefined": "ENSP00000518556.1:p.Asp710Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "G", "end": 2476, "referenceAllele": "C", "start": 2475 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.2325C>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Asp775Glu", "hgvsWellDefined": "ENSP00000389744.2:p.Asp775Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.2325C>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2325C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Asp775Glu" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Asp775Glu" } } } }, { "coordinates": [ { "allele": "G", "end": 2151, "referenceAllele": "C", "start": 2150 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*636C>G" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*636C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "G", "end": 2016, "referenceAllele": "C", "start": 2015 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.1875C>G" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Asp625Glu", "hgvsWellDefined": "ENSP00000510238.1:p.Asp625Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "G", "end": 3233, "referenceAllele": "C", "start": 3232 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.2328C>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Asp776Glu", "hgvsWellDefined": "ENSP00000332353.6:p.Asp776Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2328C>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.2328C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Asp776Glu" }, "RefSeq": { "hgvs": "NP_000255.2:p.Asp776Glu" } } } }, { "coordinates": [ { "allele": "G", "end": 2628, "referenceAllele": "C", "start": 2627 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.2328C>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Asp776Glu", "hgvsWellDefined": "ENSP00000332353.6:p.Asp776Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "G", "end": 2470, "referenceAllele": "C", "start": 2469 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.2325C>G" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Asp775Glu", "hgvsWellDefined": "ENSP00000364423.2:p.Asp775Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "G", "end": 2097, "referenceAllele": "C", "start": 2096 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.2097C>G" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.2097C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "G", "end": 2390, "referenceAllele": "C", "start": 2389 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.1875C>G" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Asp625Glu", "hgvsWellDefined": "ENSP00000396135.1:p.Asp625Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "G", "end": 2234, "referenceAllele": "C", "start": 2233 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.1875C>G" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Asp625Glu", "hgvsWellDefined": "ENSP00000399981.1:p.Asp625Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "G", "end": 2316, "referenceAllele": "C", "start": 2315 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.1875C>G" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Asp625Glu", "hgvsWellDefined": "ENSP00000414823.2:p.Asp625Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "G", "end": 2716, "referenceAllele": "C", "start": 2715 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.2130C>G" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Asp710Glu", "hgvsWellDefined": "ENSP00000410287.2:p.Asp710Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "G", "end": 2624, "referenceAllele": "C", "start": 2623 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.2130C>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Asp710Glu", "hgvsWellDefined": "ENSP00000389744.1:p.Asp710Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "G", "end": 517, "referenceAllele": "C", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000549678.1:n.517C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS367610" }, { "@id": "http://reg.genome.network/allele/PA658804681", "coordinates": [ { "allele": "G", "end": 2516, "referenceAllele": "C", "start": 2515 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.2328C>G", "LRG_515t1:c.2328C>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Asp776Glu", "hgvsWellDefined": "NP_000255.2:p.Asp776Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825487017", "coordinates": [ { "allele": "G", "end": 2624, "referenceAllele": "C", "start": 2623 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.2130C>G", "LRG_515t2:c.2130C>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Asp710Glu", "hgvsWellDefined": "NP_001077071.1:p.Asp710Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825495515", "coordinates": [ { "allele": "G", "end": 2470, "referenceAllele": "C", "start": 2469 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.2325C>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Asp775Glu", "hgvsWellDefined": "NP_001077072.1:p.Asp775Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825502666", "coordinates": [ { "allele": "G", "end": 2234, "referenceAllele": "C", "start": 2233 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.1875C>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Asp625Glu", "hgvsWellDefined": "NP_001077073.1:p.Asp625Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825507113", "coordinates": [ { "allele": "G", "end": 2217, "referenceAllele": "C", "start": 2216 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.1875C>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Asp625Glu", "hgvsWellDefined": "NP_001077074.1:p.Asp625Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825510110", "coordinates": [ { "allele": "G", "end": 2316, "referenceAllele": "C", "start": 2315 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.1875C>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Asp625Glu", "hgvsWellDefined": "NP_001077075.1:p.Asp625Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825512977", "coordinates": [ { "allele": "G", "end": 2390, "referenceAllele": "C", "start": 2389 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.1875C>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Asp625Glu", "hgvsWellDefined": "NP_001077076.1:p.Asp625Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "C", "end": 498, "referenceAllele": "G", "start": 497 } ], "hgvs": [ "NR_038982.1:n.498G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS050659" }, { "coordinates": [ { "allele": "G", "end": 2074, "referenceAllele": "C", "start": 2073 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.1875C>G" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Asp625Glu", "hgvsWellDefined": "XP_005252159.1:p.Asp625Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "G", "end": 2372, "referenceAllele": "C", "start": 2371 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.2172C>G" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Asp724Glu", "hgvsWellDefined": "XP_011517170.1:p.Asp724Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "G", "end": 2023, "referenceAllele": "C", "start": 2022 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.1875C>G" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Asp625Glu", "hgvsWellDefined": "XP_011517171.1:p.Asp625Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "G", "end": 2011, "referenceAllele": "C", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.1875C>G" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Asp625Glu", "hgvsWellDefined": "XP_011517172.1:p.Asp625Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "G", "end": 1998, "referenceAllele": "C", "start": 1997 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.1875C>G" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Asp625Glu", "hgvsWellDefined": "XP_011517173.1:p.Asp625Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "G", "end": 1981, "referenceAllele": "C", "start": 1980 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.1875C>G" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Asp625Glu", "hgvsWellDefined": "XP_011517174.1:p.Asp625Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "G", "end": 1775, "referenceAllele": "C", "start": 1774 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.1488C>G" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Asp496Glu", "hgvsWellDefined": "XP_011517175.1:p.Asp496Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "G", "end": 2528, "referenceAllele": "C", "start": 2527 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.2328C>G" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Asp776Glu", "hgvsWellDefined": "XP_011517176.1:p.Asp776Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA658804681", "coordinates": [ { "allele": "G", "end": 2516, "referenceAllele": "C", "start": 2515 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.2328C>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Asp776Glu", "hgvsWellDefined": "NP_000255.2:p.Asp776Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825487017", "coordinates": [ { "allele": "G", "end": 2716, "referenceAllele": "C", "start": 2715 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.2130C>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Asp710Glu", "hgvsWellDefined": "NP_001077071.1:p.Asp710Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825495515", "coordinates": [ { "allele": "G", "end": 2470, "referenceAllele": "C", "start": 2469 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.2325C>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Asp775Glu", "hgvsWellDefined": "NP_001077072.1:p.Asp775Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825502666", "coordinates": [ { "allele": "G", "end": 2234, "referenceAllele": "C", "start": 2233 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.1875C>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Asp625Glu", "hgvsWellDefined": "NP_001077073.1:p.Asp625Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825507113", "coordinates": [ { "allele": "G", "end": 2217, "referenceAllele": "C", "start": 2216 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.1875C>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Asp625Glu", "hgvsWellDefined": "NP_001077074.1:p.Asp625Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825510110", "coordinates": [ { "allele": "G", "end": 2316, "referenceAllele": "C", "start": 2315 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.1875C>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Asp625Glu", "hgvsWellDefined": "NP_001077075.1:p.Asp625Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825512977", "coordinates": [ { "allele": "G", "end": 2390, "referenceAllele": "C", "start": 2389 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.1875C>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Asp625Glu", "hgvsWellDefined": "NP_001077076.1:p.Asp625Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828033324", "coordinates": [ { "allele": "G", "end": 2360, "referenceAllele": "C", "start": 2359 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.2172C>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Asp724Glu", "hgvsWellDefined": "NP_001341847.1:p.Asp724Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "G", "end": 2438, "endIntronDirection": "-", "endIntronOffset": 88, "referenceAllele": "C", "start": 2438, "startIntronDirection": "-", "startIntronOffset": 89 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.2439-89C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA658804681", "coordinates": [ { "allele": "G", "end": 3233, "referenceAllele": "C", "start": 3232 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.2328C>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Asp776Glu", "hgvsWellDefined": "NP_000255.2:p.Asp776Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2328C>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.2328C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Asp776Glu" }, "RefSeq": { "hgvs": "NP_000255.2:p.Asp776Glu" } } } }, { "@id": "http://reg.genome.network/allele/PA2825510110", "coordinates": [ { "allele": "G", "end": 2326, "referenceAllele": "C", "start": 2325 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.1875C>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Asp625Glu", "hgvsWellDefined": "NP_001077075.1:p.Asp625Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828033324", "coordinates": [ { "allele": "G", "end": 3077, "referenceAllele": "C", "start": 3076 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.2172C>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Asp724Glu", "hgvsWellDefined": "NP_001341847.1:p.Asp724Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "G", "end": 3155, "endIntronDirection": "-", "endIntronOffset": 88, "referenceAllele": "C", "start": 3155, "startIntronDirection": "-", "startIntronOffset": 89 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.3156-89C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825487017", "coordinates": [ { "allele": "G", "end": 2630, "referenceAllele": "C", "start": 2629 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.2130C>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Asp710Glu", "hgvsWellDefined": "NP_001077071.1:p.Asp710Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825495515", "coordinates": [ { "allele": "G", "end": 2476, "referenceAllele": "C", "start": 2475 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.2325C>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Asp775Glu", "hgvsWellDefined": "NP_001077072.1:p.Asp775Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.2325C>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2325C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Asp775Glu" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Asp775Glu" } } } }, { "@id": "http://reg.genome.network/allele/PA2825502666", "coordinates": [ { "allele": "G", "end": 2234, "referenceAllele": "C", "start": 2233 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.1875C>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Asp625Glu", "hgvsWellDefined": "NP_001077073.1:p.Asp625Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825507113", "coordinates": [ { "allele": "G", "end": 2217, "referenceAllele": "C", "start": 2216 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.1875C>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Asp625Glu", "hgvsWellDefined": "NP_001077074.1:p.Asp625Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825512977", "coordinates": [ { "allele": "G", "end": 2390, "referenceAllele": "C", "start": 2389 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.1875C>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Asp625Glu", "hgvsWellDefined": "NP_001077076.1:p.Asp625Glu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }