{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374110621", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.3941C>T (p.Pro1314Leu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=638464[alleleid]", "alleleId": 638464, "preferredName": "NM_000264.5(PTCH1):c.3941C>T (p.Pro1314Leu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/644944", "RCV": [ "RCV000798946", "RCV002352343", "RCV003153839" ], "variationId": 644944 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98209597G>A?assembly=hg19", "id": "chr9:g.98209597G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95447315G>A?assembly=hg38", "id": "chr9:g.95447315G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1400282737", "rs": 1400282737 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98209597-G-A?dataset=gnomad_r2_1", "id": "9-98209597-G-A", "variant": "9:98209597 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95447315-G-A?dataset=gnomad_r3", "id": "9-95447315-G-A", "variant": "9:95447315 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95447315-G-A?dataset=gnomad_r4", "id": "9-95447315-G-A", "variant": "9:95447315 G / A" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 95447315, "referenceAllele": "G", "start": 95447314 } ], "hgvs": [ "NC_000009.12:g.95447315G>A", "CM000671.2:g.95447315G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 98209597, "referenceAllele": "G", "start": 98209596 } ], "hgvs": [ "NC_000009.11:g.98209597G>A", "CM000671.1:g.98209597G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 97249418, "referenceAllele": "G", "start": 97249417 } ], "hgvs": [ "NC_000009.10:g.97249418G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 74651, "referenceAllele": "C", "start": 74650 } ], "hgvs": [ "NG_007664.1:g.74651C>T", "LRG_515:g.74651C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4243, "referenceAllele": "C", "start": 4242 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.3743C>T" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Pro1248Leu", "hgvsWellDefined": "ENSP00000518556.1:p.Pro1248Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "T", "end": 4089, "referenceAllele": "C", "start": 4088 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.3938C>T" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Pro1313Leu", "hgvsWellDefined": "ENSP00000389744.2:p.Pro1313Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.3938C>T" }, "RefSeq": { "hgvs": "NM_001083603.3:c.3938C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Pro1313Leu" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Pro1313Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 2138, "referenceAllele": "C", "start": 2137 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000687744.1:n.2138C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831242" }, { "coordinates": [ { "allele": "T", "end": 3764, "referenceAllele": "C", "start": 3763 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*2249C>T" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*2249C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "T", "end": 3629, "referenceAllele": "C", "start": 3628 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.3488C>T" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Pro1163Leu", "hgvsWellDefined": "ENSP00000510238.1:p.Pro1163Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "T", "end": 1288, "referenceAllele": "C", "start": 1287 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000693534.1:n.1288C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS834291" }, { "coordinates": [ { "allele": "T", "end": 4846, "referenceAllele": "C", "start": 4845 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.3941C>T" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Pro1314Leu", "hgvsWellDefined": "ENSP00000332353.6:p.Pro1314Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.3941C>T" }, "RefSeq": { "hgvs": "NM_000264.5:c.3941C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Pro1314Leu" }, "RefSeq": { "hgvs": "NP_000255.2:p.Pro1314Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 4241, "referenceAllele": "C", "start": 4240 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.3941C>T" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Pro1314Leu", "hgvsWellDefined": "ENSP00000332353.6:p.Pro1314Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "T", "end": 4083, "referenceAllele": "C", "start": 4082 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.3938C>T" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Pro1313Leu", "hgvsWellDefined": "ENSP00000364423.2:p.Pro1313Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "T", "end": 7247, "referenceAllele": "C", "start": 7246 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.7247C>T" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.7247C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "T", "end": 4003, "referenceAllele": "C", "start": 4002 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.3488C>T" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Pro1163Leu", "hgvsWellDefined": "ENSP00000396135.1:p.Pro1163Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "T", "end": 3847, "referenceAllele": "C", "start": 3846 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.3488C>T" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Pro1163Leu", "hgvsWellDefined": "ENSP00000399981.1:p.Pro1163Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "T", "end": 3929, "referenceAllele": "C", "start": 3928 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.3488C>T" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Pro1163Leu", "hgvsWellDefined": "ENSP00000414823.2:p.Pro1163Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "T", "end": 4329, "referenceAllele": "C", "start": 4328 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.3743C>T" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Pro1248Leu", "hgvsWellDefined": "ENSP00000410287.2:p.Pro1248Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "T", "end": 4237, "referenceAllele": "C", "start": 4236 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.3743C>T" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Pro1248Leu", "hgvsWellDefined": "ENSP00000389744.1:p.Pro1248Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "T", "end": 1005, "referenceAllele": "C", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000546744.5:n.1005C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS365841" }, { "@id": "http://reg.genome.network/allele/PA915958429", "coordinates": [ { "allele": "T", "end": 4129, "referenceAllele": "C", "start": 4128 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.3941C>T", "LRG_515t1:c.3941C>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Pro1314Leu", "hgvsWellDefined": "NP_000255.2:p.Pro1314Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825491023", "coordinates": [ { "allele": "T", "end": 4237, "referenceAllele": "C", "start": 4236 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.3743C>T", "LRG_515t2:c.3743C>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Pro1248Leu", "hgvsWellDefined": "NP_001077071.1:p.Pro1248Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825498273", "coordinates": [ { "allele": "T", "end": 4083, "referenceAllele": "C", "start": 4082 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.3938C>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Pro1313Leu", "hgvsWellDefined": "NP_001077072.1:p.Pro1313Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825504997", "coordinates": [ { "allele": "T", "end": 3847, "referenceAllele": "C", "start": 3846 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.3488C>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Pro1163Leu", "hgvsWellDefined": "NP_001077073.1:p.Pro1163Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825508333", "coordinates": [ { "allele": "T", "end": 3830, "referenceAllele": "C", "start": 3829 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.3488C>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Pro1163Leu", "hgvsWellDefined": "NP_001077074.1:p.Pro1163Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825511331", "coordinates": [ { "allele": "T", "end": 3929, "referenceAllele": "C", "start": 3928 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.3488C>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Pro1163Leu", "hgvsWellDefined": "NP_001077075.1:p.Pro1163Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825514074", "coordinates": [ { "allele": "T", "end": 4003, "referenceAllele": "C", "start": 4002 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.3488C>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Pro1163Leu", "hgvsWellDefined": "NP_001077076.1:p.Pro1163Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "T", "end": 3687, "referenceAllele": "C", "start": 3686 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.3488C>T" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Pro1163Leu", "hgvsWellDefined": "XP_005252159.1:p.Pro1163Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "T", "end": 3985, "referenceAllele": "C", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.3785C>T" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Pro1262Leu", "hgvsWellDefined": "XP_011517170.1:p.Pro1262Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "T", "end": 3636, "referenceAllele": "C", "start": 3635 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.3488C>T" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Pro1163Leu", "hgvsWellDefined": "XP_011517171.1:p.Pro1163Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "T", "end": 3624, "referenceAllele": "C", "start": 3623 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.3488C>T" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Pro1163Leu", "hgvsWellDefined": "XP_011517172.1:p.Pro1163Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "T", "end": 3611, "referenceAllele": "C", "start": 3610 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.3488C>T" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Pro1163Leu", "hgvsWellDefined": "XP_011517173.1:p.Pro1163Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "T", "end": 3594, "referenceAllele": "C", "start": 3593 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.3488C>T" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Pro1163Leu", "hgvsWellDefined": "XP_011517174.1:p.Pro1163Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "T", "end": 3388, "referenceAllele": "C", "start": 3387 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.3101C>T" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Pro1034Leu", "hgvsWellDefined": "XP_011517175.1:p.Pro1034Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "@id": "http://reg.genome.network/allele/PA915958429", "coordinates": [ { "allele": "T", "end": 4129, "referenceAllele": "C", "start": 4128 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.3941C>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Pro1314Leu", "hgvsWellDefined": "NP_000255.2:p.Pro1314Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825491023", "coordinates": [ { "allele": "T", "end": 4329, "referenceAllele": "C", "start": 4328 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.3743C>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Pro1248Leu", "hgvsWellDefined": "NP_001077071.1:p.Pro1248Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825498273", "coordinates": [ { "allele": "T", "end": 4083, "referenceAllele": "C", "start": 4082 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.3938C>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Pro1313Leu", "hgvsWellDefined": "NP_001077072.1:p.Pro1313Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825504997", "coordinates": [ { "allele": "T", "end": 3847, "referenceAllele": "C", "start": 3846 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.3488C>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Pro1163Leu", "hgvsWellDefined": "NP_001077073.1:p.Pro1163Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825508333", "coordinates": [ { "allele": "T", "end": 3830, "referenceAllele": "C", "start": 3829 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.3488C>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Pro1163Leu", "hgvsWellDefined": "NP_001077074.1:p.Pro1163Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825511331", "coordinates": [ { "allele": "T", "end": 3929, "referenceAllele": "C", "start": 3928 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.3488C>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Pro1163Leu", "hgvsWellDefined": "NP_001077075.1:p.Pro1163Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825514074", "coordinates": [ { "allele": "T", "end": 4003, "referenceAllele": "C", "start": 4002 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.3488C>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Pro1163Leu", "hgvsWellDefined": "NP_001077076.1:p.Pro1163Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828035309", "coordinates": [ { "allele": "T", "end": 3973, "referenceAllele": "C", "start": 3972 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.3785C>T" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Pro1262Leu", "hgvsWellDefined": "NP_001341847.1:p.Pro1262Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "T", "end": 3963, "referenceAllele": "C", "start": 3962 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.3963C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA915958429", "coordinates": [ { "allele": "T", "end": 4846, "referenceAllele": "C", "start": 4845 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.3941C>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Pro1314Leu", "hgvsWellDefined": "NP_000255.2:p.Pro1314Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.3941C>T" }, "RefSeq": { "hgvs": "NM_000264.5:c.3941C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Pro1314Leu" }, "RefSeq": { "hgvs": "NP_000255.2:p.Pro1314Leu" } } } }, { "@id": "http://reg.genome.network/allele/PA2825511331", "coordinates": [ { "allele": "T", "end": 3939, "referenceAllele": "C", "start": 3938 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.3488C>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Pro1163Leu", "hgvsWellDefined": "NP_001077075.1:p.Pro1163Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828035309", "coordinates": [ { "allele": "T", "end": 4690, "referenceAllele": "C", "start": 4689 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.3785C>T" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Pro1262Leu", "hgvsWellDefined": "NP_001341847.1:p.Pro1262Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "T", "end": 4680, "referenceAllele": "C", "start": 4679 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.4680C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825491023", "coordinates": [ { "allele": "T", "end": 4243, "referenceAllele": "C", "start": 4242 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.3743C>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Pro1248Leu", "hgvsWellDefined": "NP_001077071.1:p.Pro1248Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825498273", "coordinates": [ { "allele": "T", "end": 4089, "referenceAllele": "C", "start": 4088 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.3938C>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Pro1313Leu", "hgvsWellDefined": "NP_001077072.1:p.Pro1313Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.3938C>T" }, "RefSeq": { "hgvs": "NM_001083603.3:c.3938C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Pro1313Leu" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Pro1313Leu" } } } }, { "@id": "http://reg.genome.network/allele/PA2825504997", "coordinates": [ { "allele": "T", "end": 3847, "referenceAllele": "C", "start": 3846 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.3488C>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Pro1163Leu", "hgvsWellDefined": "NP_001077073.1:p.Pro1163Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825508333", "coordinates": [ { "allele": "T", "end": 3830, "referenceAllele": "C", "start": 3829 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.3488C>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Pro1163Leu", "hgvsWellDefined": "NP_001077074.1:p.Pro1163Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825514074", "coordinates": [ { "allele": "T", "end": 4003, "referenceAllele": "C", "start": 4002 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.3488C>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Pro1163Leu", "hgvsWellDefined": "NP_001077076.1:p.Pro1163Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }