{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5137991", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.3956G>A (p.Arg1319His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=459757[alleleid]", "alleleId": 459757, "preferredName": "NM_000264.5(PTCH1):c.3956G>A (p.Arg1319His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/453873", "RCV": [ "RCV000526107", "RCV000567082" ], "variationId": 453873 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-98209582-C-T", "id": "9-98209582-C-T", "variant": "9:98209582 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98209582C>T?assembly=hg19", "id": "chr9:g.98209582C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95447300C>T?assembly=hg38", "id": "chr9:g.95447300C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/572658914", "rs": 572658914 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98209582-C-T?dataset=gnomad_r2_1", "id": "9-98209582-C-T", "variant": "9:98209582 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95447300-C-T?dataset=gnomad_r3", "id": "9-95447300-C-T", "variant": "9:95447300 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95447300-C-T?dataset=gnomad_r4", "id": "9-95447300-C-T", "variant": "9:95447300 C / T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 95447300, "referenceAllele": "C", "start": 95447299 } ], "hgvs": [ "NC_000009.12:g.95447300C>T", "CM000671.2:g.95447300C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 98209582, "referenceAllele": "C", "start": 98209581 } ], "hgvs": [ "NC_000009.11:g.98209582C>T", "CM000671.1:g.98209582C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 97249403, "referenceAllele": "C", "start": 97249402 } ], "hgvs": [ "NC_000009.10:g.97249403C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 74666, "referenceAllele": "G", "start": 74665 } ], "hgvs": [ "NG_007664.1:g.74666G>A", "LRG_515:g.74666G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4258, "referenceAllele": "G", "start": 4257 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.3758G>A" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Arg1253His", "hgvsWellDefined": "ENSP00000518556.1:p.Arg1253His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "A", "end": 4104, "referenceAllele": "G", "start": 4103 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.3953G>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Arg1318His", "hgvsWellDefined": "ENSP00000389744.2:p.Arg1318His" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.3953G>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.3953G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Arg1318His" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Arg1318His" } } } }, { "coordinates": [ { "allele": "A", "end": 2153, "referenceAllele": "G", "start": 2152 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000687744.1:n.2153G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831242" }, { "coordinates": [ { "allele": "A", "end": 3779, "referenceAllele": "G", "start": 3778 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*2264G>A" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*2264G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "A", "end": 3644, "referenceAllele": "G", "start": 3643 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.3503G>A" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Arg1168His", "hgvsWellDefined": "ENSP00000510238.1:p.Arg1168His" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "A", "end": 1303, "referenceAllele": "G", "start": 1302 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000693534.1:n.1303G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS834291" }, { "coordinates": [ { "allele": "A", "end": 4861, "referenceAllele": "G", "start": 4860 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.3956G>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Arg1319His", "hgvsWellDefined": "ENSP00000332353.6:p.Arg1319His" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.3956G>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.3956G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Arg1319His" }, "RefSeq": { "hgvs": "NP_000255.2:p.Arg1319His" } } } }, { "coordinates": [ { "allele": "A", "end": 4256, "referenceAllele": "G", "start": 4255 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.3956G>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Arg1319His", "hgvsWellDefined": "ENSP00000332353.6:p.Arg1319His" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "A", "end": 4098, "referenceAllele": "G", "start": 4097 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.3953G>A" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Arg1318His", "hgvsWellDefined": "ENSP00000364423.2:p.Arg1318His" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "A", "end": 7262, "referenceAllele": "G", "start": 7261 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.7262G>A" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.7262G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "A", "end": 4018, "referenceAllele": "G", "start": 4017 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.3503G>A" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Arg1168His", "hgvsWellDefined": "ENSP00000396135.1:p.Arg1168His" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "A", "end": 3862, "referenceAllele": "G", "start": 3861 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.3503G>A" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Arg1168His", "hgvsWellDefined": "ENSP00000399981.1:p.Arg1168His" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "A", "end": 3944, "referenceAllele": "G", "start": 3943 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.3503G>A" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Arg1168His", "hgvsWellDefined": "ENSP00000414823.2:p.Arg1168His" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "A", "end": 4344, "referenceAllele": "G", "start": 4343 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.3758G>A" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Arg1253His", "hgvsWellDefined": "ENSP00000410287.2:p.Arg1253His" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "A", "end": 4252, "referenceAllele": "G", "start": 4251 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.3758G>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Arg1253His", "hgvsWellDefined": "ENSP00000389744.1:p.Arg1253His" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "A", "end": 1020, "referenceAllele": "G", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000546744.5:n.1020G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS365841" }, { "@id": "http://reg.genome.network/allele/PA658677688", "coordinates": [ { "allele": "A", "end": 4144, "referenceAllele": "G", "start": 4143 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.3956G>A", "LRG_515t1:c.3956G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Arg1319His", "hgvsWellDefined": "NP_000255.2:p.Arg1319His" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825487482", "coordinates": [ { "allele": "A", "end": 4252, "referenceAllele": "G", "start": 4251 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.3758G>A", "LRG_515t2:c.3758G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Arg1253His", "hgvsWellDefined": "NP_001077071.1:p.Arg1253His" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825498310", "coordinates": [ { "allele": "A", "end": 4098, "referenceAllele": "G", "start": 4097 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.3953G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Arg1318His", "hgvsWellDefined": "NP_001077072.1:p.Arg1318His" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825505050", "coordinates": [ { "allele": "A", "end": 3862, "referenceAllele": "G", "start": 3861 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.3503G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Arg1168His", "hgvsWellDefined": "NP_001077073.1:p.Arg1168His" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825508353", "coordinates": [ { "allele": "A", "end": 3845, "referenceAllele": "G", "start": 3844 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.3503G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Arg1168His", "hgvsWellDefined": "NP_001077074.1:p.Arg1168His" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825511351", "coordinates": [ { "allele": "A", "end": 3944, "referenceAllele": "G", "start": 3943 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.3503G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Arg1168His", "hgvsWellDefined": "NP_001077075.1:p.Arg1168His" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825514096", "coordinates": [ { "allele": "A", "end": 4018, "referenceAllele": "G", "start": 4017 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.3503G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Arg1168His", "hgvsWellDefined": "NP_001077076.1:p.Arg1168His" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "A", "end": 3702, "referenceAllele": "G", "start": 3701 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.3503G>A" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Arg1168His", "hgvsWellDefined": "XP_005252159.1:p.Arg1168His" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "A", "end": 4000, "referenceAllele": "G", "start": 3999 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.3800G>A" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Arg1267His", "hgvsWellDefined": "XP_011517170.1:p.Arg1267His" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "A", "end": 3651, "referenceAllele": "G", "start": 3650 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.3503G>A" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Arg1168His", "hgvsWellDefined": "XP_011517171.1:p.Arg1168His" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "A", "end": 3639, "referenceAllele": "G", "start": 3638 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.3503G>A" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Arg1168His", "hgvsWellDefined": "XP_011517172.1:p.Arg1168His" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "A", "end": 3626, "referenceAllele": "G", "start": 3625 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.3503G>A" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Arg1168His", "hgvsWellDefined": "XP_011517173.1:p.Arg1168His" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "A", "end": 3609, "referenceAllele": "G", "start": 3608 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.3503G>A" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Arg1168His", "hgvsWellDefined": "XP_011517174.1:p.Arg1168His" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "A", "end": 3403, "referenceAllele": "G", "start": 3402 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.3116G>A" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Arg1039His", "hgvsWellDefined": "XP_011517175.1:p.Arg1039His" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "@id": "http://reg.genome.network/allele/PA658677688", "coordinates": [ { "allele": "A", "end": 4144, "referenceAllele": "G", "start": 4143 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.3956G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Arg1319His", "hgvsWellDefined": "NP_000255.2:p.Arg1319His" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825487482", "coordinates": [ { "allele": "A", "end": 4344, "referenceAllele": "G", "start": 4343 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.3758G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Arg1253His", "hgvsWellDefined": "NP_001077071.1:p.Arg1253His" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825498310", "coordinates": [ { "allele": "A", "end": 4098, "referenceAllele": "G", "start": 4097 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.3953G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Arg1318His", "hgvsWellDefined": "NP_001077072.1:p.Arg1318His" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825505050", "coordinates": [ { "allele": "A", "end": 3862, "referenceAllele": "G", "start": 3861 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.3503G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Arg1168His", "hgvsWellDefined": "NP_001077073.1:p.Arg1168His" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825508353", "coordinates": [ { "allele": "A", "end": 3845, "referenceAllele": "G", "start": 3844 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.3503G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Arg1168His", "hgvsWellDefined": "NP_001077074.1:p.Arg1168His" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825511351", "coordinates": [ { "allele": "A", "end": 3944, "referenceAllele": "G", "start": 3943 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.3503G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Arg1168His", "hgvsWellDefined": "NP_001077075.1:p.Arg1168His" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825514096", "coordinates": [ { "allele": "A", "end": 4018, "referenceAllele": "G", "start": 4017 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.3503G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Arg1168His", "hgvsWellDefined": "NP_001077076.1:p.Arg1168His" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828035347", "coordinates": [ { "allele": "A", "end": 3988, "referenceAllele": "G", "start": 3987 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.3800G>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Arg1267His", "hgvsWellDefined": "NP_001341847.1:p.Arg1267His" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "A", "end": 3978, "referenceAllele": "G", "start": 3977 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.3978G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA658677688", "coordinates": [ { "allele": "A", "end": 4861, "referenceAllele": "G", "start": 4860 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.3956G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Arg1319His", "hgvsWellDefined": "NP_000255.2:p.Arg1319His" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.3956G>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.3956G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Arg1319His" }, "RefSeq": { "hgvs": "NP_000255.2:p.Arg1319His" } } } }, { "@id": "http://reg.genome.network/allele/PA2825511351", "coordinates": [ { "allele": "A", "end": 3954, "referenceAllele": "G", "start": 3953 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.3503G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Arg1168His", "hgvsWellDefined": "NP_001077075.1:p.Arg1168His" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828035347", "coordinates": [ { "allele": "A", "end": 4705, "referenceAllele": "G", "start": 4704 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.3800G>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Arg1267His", "hgvsWellDefined": "NP_001341847.1:p.Arg1267His" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "A", "end": 4695, "referenceAllele": "G", "start": 4694 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.4695G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825487482", "coordinates": [ { "allele": "A", "end": 4258, "referenceAllele": "G", "start": 4257 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.3758G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Arg1253His", "hgvsWellDefined": "NP_001077071.1:p.Arg1253His" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825498310", "coordinates": [ { "allele": "A", "end": 4104, "referenceAllele": "G", "start": 4103 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.3953G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Arg1318His", "hgvsWellDefined": "NP_001077072.1:p.Arg1318His" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.3953G>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.3953G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Arg1318His" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Arg1318His" } } } }, { "@id": "http://reg.genome.network/allele/PA2825505050", "coordinates": [ { "allele": "A", "end": 3862, "referenceAllele": "G", "start": 3861 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.3503G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Arg1168His", "hgvsWellDefined": "NP_001077073.1:p.Arg1168His" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825508353", "coordinates": [ { "allele": "A", "end": 3845, "referenceAllele": "G", "start": 3844 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.3503G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Arg1168His", "hgvsWellDefined": "NP_001077074.1:p.Arg1168His" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825514096", "coordinates": [ { "allele": "A", "end": 4018, "referenceAllele": "G", "start": 4017 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.3503G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Arg1168His", "hgvsWellDefined": "NP_001077076.1:p.Arg1168His" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }