{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374111755", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.3397A>G (p.Thr1133Ala)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=420464[alleleid]", "alleleId": 420464, "preferredName": "NM_000264.5(PTCH1):c.3397A>G (p.Thr1133Ala)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/428851", "RCV": [ "RCV000492102", "RCV001319080" ], "variationId": 428851 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98215812T>C?assembly=hg19", "id": "chr9:g.98215812T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95453530T>C?assembly=hg38", "id": "chr9:g.95453530T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1131690996", "rs": 1131690996 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 95453530, "referenceAllele": "T", "start": 95453529 } ], "hgvs": [ "NC_000009.12:g.95453530T>C", "CM000671.2:g.95453530T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 98215812, "referenceAllele": "T", "start": 98215811 } ], "hgvs": [ "NC_000009.11:g.98215812T>C", "CM000671.1:g.98215812T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 97255633, "referenceAllele": "T", "start": 97255632 } ], "hgvs": [ "NC_000009.10:g.97255633T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "G", "end": 68436, "referenceAllele": "A", "start": 68435 } ], "hgvs": [ "NG_007664.1:g.68436A>G", "LRG_515:g.68436A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 3699, "referenceAllele": "A", "start": 3698 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.3199A>G" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Thr1067Ala", "hgvsWellDefined": "ENSP00000518556.1:p.Thr1067Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "G", "end": 3545, "referenceAllele": "A", "start": 3544 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.3394A>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Thr1132Ala", "hgvsWellDefined": "ENSP00000389744.2:p.Thr1132Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.3394A>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.3394A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Thr1132Ala" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Thr1132Ala" } } } }, { "coordinates": [ { "allele": "G", "end": 3220, "referenceAllele": "A", "start": 3219 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*1705A>G" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*1705A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "G", "end": 3085, "referenceAllele": "A", "start": 3084 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.2944A>G" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Thr982Ala", "hgvsWellDefined": "ENSP00000510238.1:p.Thr982Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "G", "end": 728, "referenceAllele": "A", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000693534.1:n.728A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS834291" }, { "coordinates": [ { "allele": "G", "end": 4302, "referenceAllele": "A", "start": 4301 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.3397A>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Thr1133Ala", "hgvsWellDefined": "ENSP00000332353.6:p.Thr1133Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.3397A>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.3397A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Thr1133Ala" }, "RefSeq": { "hgvs": "NP_000255.2:p.Thr1133Ala" } } } }, { "coordinates": [ { "allele": "G", "end": 3697, "referenceAllele": "A", "start": 3696 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.3397A>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Thr1133Ala", "hgvsWellDefined": "ENSP00000332353.6:p.Thr1133Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "G", "end": 3539, "referenceAllele": "A", "start": 3538 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.3394A>G" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Thr1132Ala", "hgvsWellDefined": "ENSP00000364423.2:p.Thr1132Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "G", "end": 3166, "referenceAllele": "A", "start": 3165 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.3166A>G" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.3166A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "G", "end": 3459, "referenceAllele": "A", "start": 3458 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.2944A>G" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Thr982Ala", "hgvsWellDefined": "ENSP00000396135.1:p.Thr982Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "G", "end": 3303, "referenceAllele": "A", "start": 3302 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.2944A>G" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Thr982Ala", "hgvsWellDefined": "ENSP00000399981.1:p.Thr982Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "G", "end": 3385, "referenceAllele": "A", "start": 3384 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.2944A>G" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Thr982Ala", "hgvsWellDefined": "ENSP00000414823.2:p.Thr982Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "G", "end": 3785, "referenceAllele": "A", "start": 3784 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.3199A>G" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Thr1067Ala", "hgvsWellDefined": "ENSP00000410287.2:p.Thr1067Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "G", "end": 3693, "referenceAllele": "A", "start": 3692 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.3199A>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Thr1067Ala", "hgvsWellDefined": "ENSP00000389744.1:p.Thr1067Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "@id": "http://reg.genome.network/allele/PA645506545", "coordinates": [ { "allele": "G", "end": 3585, "referenceAllele": "A", "start": 3584 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.3397A>G", "LRG_515t1:c.3397A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Thr1133Ala", "hgvsWellDefined": "NP_000255.2:p.Thr1133Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825490445", "coordinates": [ { "allele": "G", "end": 3693, "referenceAllele": "A", "start": 3692 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.3199A>G", "LRG_515t2:c.3199A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Thr1067Ala", "hgvsWellDefined": "NP_001077071.1:p.Thr1067Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825497181", "coordinates": [ { "allele": "G", "end": 3539, "referenceAllele": "A", "start": 3538 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.3394A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Thr1132Ala", "hgvsWellDefined": "NP_001077072.1:p.Thr1132Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825504028", "coordinates": [ { "allele": "G", "end": 3303, "referenceAllele": "A", "start": 3302 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.2944A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Thr982Ala", "hgvsWellDefined": "NP_001077073.1:p.Thr982Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825507873", "coordinates": [ { "allele": "G", "end": 3286, "referenceAllele": "A", "start": 3285 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.2944A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Thr982Ala", "hgvsWellDefined": "NP_001077074.1:p.Thr982Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825510872", "coordinates": [ { "allele": "G", "end": 3385, "referenceAllele": "A", "start": 3384 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.2944A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Thr982Ala", "hgvsWellDefined": "NP_001077075.1:p.Thr982Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA915970301", "coordinates": [ { "allele": "G", "end": 3459, "referenceAllele": "A", "start": 3458 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.2944A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Thr982Ala", "hgvsWellDefined": "NP_001077076.1:p.Thr982Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "G", "end": 3143, "referenceAllele": "A", "start": 3142 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.2944A>G" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Thr982Ala", "hgvsWellDefined": "XP_005252159.1:p.Thr982Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "G", "end": 3441, "referenceAllele": "A", "start": 3440 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.3241A>G" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Thr1081Ala", "hgvsWellDefined": "XP_011517170.1:p.Thr1081Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "G", "end": 3092, "referenceAllele": "A", "start": 3091 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.2944A>G" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Thr982Ala", "hgvsWellDefined": "XP_011517171.1:p.Thr982Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "G", "end": 3080, "referenceAllele": "A", "start": 3079 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.2944A>G" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Thr982Ala", "hgvsWellDefined": "XP_011517172.1:p.Thr982Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "G", "end": 3067, "referenceAllele": "A", "start": 3066 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.2944A>G" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Thr982Ala", "hgvsWellDefined": "XP_011517173.1:p.Thr982Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "G", "end": 3050, "referenceAllele": "A", "start": 3049 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.2944A>G" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Thr982Ala", "hgvsWellDefined": "XP_011517174.1:p.Thr982Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "G", "end": 2844, "referenceAllele": "A", "start": 2843 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.2557A>G" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Thr853Ala", "hgvsWellDefined": "XP_011517175.1:p.Thr853Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "G", "end": 3597, "referenceAllele": "A", "start": 3596 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.3397A>G" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Thr1133Ala", "hgvsWellDefined": "XP_011517176.1:p.Thr1133Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA645506545", "coordinates": [ { "allele": "G", "end": 3585, "referenceAllele": "A", "start": 3584 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.3397A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Thr1133Ala", "hgvsWellDefined": "NP_000255.2:p.Thr1133Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825490445", "coordinates": [ { "allele": "G", "end": 3785, "referenceAllele": "A", "start": 3784 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.3199A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Thr1067Ala", "hgvsWellDefined": "NP_001077071.1:p.Thr1067Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825497181", "coordinates": [ { "allele": "G", "end": 3539, "referenceAllele": "A", "start": 3538 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.3394A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Thr1132Ala", "hgvsWellDefined": "NP_001077072.1:p.Thr1132Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825504028", "coordinates": [ { "allele": "G", "end": 3303, "referenceAllele": "A", "start": 3302 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.2944A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Thr982Ala", "hgvsWellDefined": "NP_001077073.1:p.Thr982Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825507873", "coordinates": [ { "allele": "G", "end": 3286, "referenceAllele": "A", "start": 3285 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.2944A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Thr982Ala", "hgvsWellDefined": "NP_001077074.1:p.Thr982Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825510872", "coordinates": [ { "allele": "G", "end": 3385, "referenceAllele": "A", "start": 3384 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.2944A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Thr982Ala", "hgvsWellDefined": "NP_001077075.1:p.Thr982Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA915970301", "coordinates": [ { "allele": "G", "end": 3459, "referenceAllele": "A", "start": 3458 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.2944A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Thr982Ala", "hgvsWellDefined": "NP_001077076.1:p.Thr982Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828034511", "coordinates": [ { "allele": "G", "end": 3429, "referenceAllele": "A", "start": 3428 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.3241A>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Thr1081Ala", "hgvsWellDefined": "NP_001341847.1:p.Thr1081Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "G", "end": 3419, "referenceAllele": "A", "start": 3418 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.3419A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA645506545", "coordinates": [ { "allele": "G", "end": 4302, "referenceAllele": "A", "start": 4301 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.3397A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Thr1133Ala", "hgvsWellDefined": "NP_000255.2:p.Thr1133Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.3397A>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.3397A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Thr1133Ala" }, "RefSeq": { "hgvs": "NP_000255.2:p.Thr1133Ala" } } } }, { "@id": "http://reg.genome.network/allele/PA2825510872", "coordinates": [ { "allele": "G", "end": 3395, "referenceAllele": "A", "start": 3394 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.2944A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Thr982Ala", "hgvsWellDefined": "NP_001077075.1:p.Thr982Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828034511", "coordinates": [ { "allele": "G", "end": 4146, "referenceAllele": "A", "start": 4145 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.3241A>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Thr1081Ala", "hgvsWellDefined": "NP_001341847.1:p.Thr1081Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "G", "end": 4136, "referenceAllele": "A", "start": 4135 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.4136A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825490445", "coordinates": [ { "allele": "G", "end": 3699, "referenceAllele": "A", "start": 3698 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.3199A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Thr1067Ala", "hgvsWellDefined": "NP_001077071.1:p.Thr1067Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825497181", "coordinates": [ { "allele": "G", "end": 3545, "referenceAllele": "A", "start": 3544 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.3394A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Thr1132Ala", "hgvsWellDefined": "NP_001077072.1:p.Thr1132Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.3394A>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.3394A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Thr1132Ala" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Thr1132Ala" } } } }, { "@id": "http://reg.genome.network/allele/PA2825504028", "coordinates": [ { "allele": "G", "end": 3303, "referenceAllele": "A", "start": 3302 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.2944A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Thr982Ala", "hgvsWellDefined": "NP_001077073.1:p.Thr982Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825507873", "coordinates": [ { "allele": "G", "end": 3286, "referenceAllele": "A", "start": 3285 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.2944A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Thr982Ala", "hgvsWellDefined": "NP_001077074.1:p.Thr982Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA915970301", "coordinates": [ { "allele": "G", "end": 3459, "referenceAllele": "A", "start": 3458 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.2944A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Thr982Ala", "hgvsWellDefined": "NP_001077076.1:p.Thr982Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }