{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374110914", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.3798C>G (p.His1266Gln)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98211357G>C?assembly=hg19", "id": "chr9:g.98211357G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95449075G>C?assembly=hg38", "id": "chr9:g.95449075G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2136596563", "rs": 2136596563 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 95449075, "referenceAllele": "G", "start": 95449074 } ], "hgvs": [ "NC_000009.12:g.95449075G>C", "CM000671.2:g.95449075G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 98211357, "referenceAllele": "G", "start": 98211356 } ], "hgvs": [ "NC_000009.11:g.98211357G>C", "CM000671.1:g.98211357G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 97251178, "referenceAllele": "G", "start": 97251177 } ], "hgvs": [ "NC_000009.10:g.97251178G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "G", "end": 72891, "referenceAllele": "C", "start": 72890 } ], "hgvs": [ "NG_007664.1:g.72891C>G", "LRG_515:g.72891C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 4100, "referenceAllele": "C", "start": 4099 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.3600C>G" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.His1200Gln", "hgvsWellDefined": "ENSP00000518556.1:p.His1200Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "G", "end": 3946, "referenceAllele": "C", "start": 3945 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.3795C>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.His1265Gln", "hgvsWellDefined": "ENSP00000389744.2:p.His1265Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.3795C>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.3795C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.His1265Gln" }, "RefSeq": { "hgvs": "NP_001077072.1:p.His1265Gln" } } } }, { "coordinates": [ { "allele": "G", "end": 1995, "referenceAllele": "C", "start": 1994 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000687744.1:n.1995C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS831242" }, { "coordinates": [ { "allele": "G", "end": 3621, "referenceAllele": "C", "start": 3620 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*2106C>G" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*2106C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "G", "end": 3486, "referenceAllele": "C", "start": 3485 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.3345C>G" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.His1115Gln", "hgvsWellDefined": "ENSP00000510238.1:p.His1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "G", "end": 1145, "referenceAllele": "C", "start": 1144 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000693534.1:n.1145C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS834291" }, { "coordinates": [ { "allele": "G", "end": 4703, "referenceAllele": "C", "start": 4702 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.3798C>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.His1266Gln", "hgvsWellDefined": "ENSP00000332353.6:p.His1266Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.3798C>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.3798C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.His1266Gln" }, "RefSeq": { "hgvs": "NP_000255.2:p.His1266Gln" } } } }, { "coordinates": [ { "allele": "G", "end": 4098, "referenceAllele": "C", "start": 4097 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.3798C>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.His1266Gln", "hgvsWellDefined": "ENSP00000332353.6:p.His1266Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "G", "end": 3940, "referenceAllele": "C", "start": 3939 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.3795C>G" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.His1265Gln", "hgvsWellDefined": "ENSP00000364423.2:p.His1265Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "G", "end": 7104, "referenceAllele": "C", "start": 7103 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.7104C>G" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.7104C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "G", "end": 3860, "referenceAllele": "C", "start": 3859 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.3345C>G" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.His1115Gln", "hgvsWellDefined": "ENSP00000396135.1:p.His1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "G", "end": 3704, "referenceAllele": "C", "start": 3703 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.3345C>G" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.His1115Gln", "hgvsWellDefined": "ENSP00000399981.1:p.His1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "G", "end": 3786, "referenceAllele": "C", "start": 3785 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.3345C>G" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.His1115Gln", "hgvsWellDefined": "ENSP00000414823.2:p.His1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "G", "end": 4186, "referenceAllele": "C", "start": 4185 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.3600C>G" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.His1200Gln", "hgvsWellDefined": "ENSP00000410287.2:p.His1200Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "G", "end": 4094, "referenceAllele": "C", "start": 4093 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.3600C>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.His1200Gln", "hgvsWellDefined": "ENSP00000389744.1:p.His1200Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "G", "end": 862, "referenceAllele": "C", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000546744.5:n.862C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS365841" }, { "@id": "http://reg.genome.network/allele/PA2741813813", "coordinates": [ { "allele": "G", "end": 3986, "referenceAllele": "C", "start": 3985 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.3798C>G", "LRG_515t1:c.3798C>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.His1266Gln", "hgvsWellDefined": "NP_000255.2:p.His1266Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825487408", "coordinates": [ { "allele": "G", "end": 4094, "referenceAllele": "C", "start": 4093 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.3600C>G", "LRG_515t2:c.3600C>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.His1200Gln", "hgvsWellDefined": "NP_001077071.1:p.His1200Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825497894", "coordinates": [ { "allele": "G", "end": 3940, "referenceAllele": "C", "start": 3939 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.3795C>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.His1265Gln", "hgvsWellDefined": "NP_001077072.1:p.His1265Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825504684", "coordinates": [ { "allele": "G", "end": 3704, "referenceAllele": "C", "start": 3703 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.3345C>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.His1115Gln", "hgvsWellDefined": "NP_001077073.1:p.His1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825508192", "coordinates": [ { "allele": "G", "end": 3687, "referenceAllele": "C", "start": 3686 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.3345C>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.His1115Gln", "hgvsWellDefined": "NP_001077074.1:p.His1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825511188", "coordinates": [ { "allele": "G", "end": 3786, "referenceAllele": "C", "start": 3785 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.3345C>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.His1115Gln", "hgvsWellDefined": "NP_001077075.1:p.His1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825513932", "coordinates": [ { "allele": "G", "end": 3860, "referenceAllele": "C", "start": 3859 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.3345C>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.His1115Gln", "hgvsWellDefined": "NP_001077076.1:p.His1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "G", "end": 3544, "referenceAllele": "C", "start": 3543 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.3345C>G" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.His1115Gln", "hgvsWellDefined": "XP_005252159.1:p.His1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "G", "end": 3842, "referenceAllele": "C", "start": 3841 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.3642C>G" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.His1214Gln", "hgvsWellDefined": "XP_011517170.1:p.His1214Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "G", "end": 3493, "referenceAllele": "C", "start": 3492 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.3345C>G" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.His1115Gln", "hgvsWellDefined": "XP_011517171.1:p.His1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "G", "end": 3481, "referenceAllele": "C", "start": 3480 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.3345C>G" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.His1115Gln", "hgvsWellDefined": "XP_011517172.1:p.His1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "G", "end": 3468, "referenceAllele": "C", "start": 3467 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.3345C>G" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.His1115Gln", "hgvsWellDefined": "XP_011517173.1:p.His1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "G", "end": 3451, "referenceAllele": "C", "start": 3450 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.3345C>G" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.His1115Gln", "hgvsWellDefined": "XP_011517174.1:p.His1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "G", "end": 3245, "referenceAllele": "C", "start": 3244 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.2958C>G" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.His986Gln", "hgvsWellDefined": "XP_011517175.1:p.His986Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "@id": "http://reg.genome.network/allele/PA2741813813", "coordinates": [ { "allele": "G", "end": 3986, "referenceAllele": "C", "start": 3985 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.3798C>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.His1266Gln", "hgvsWellDefined": "NP_000255.2:p.His1266Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825487408", "coordinates": [ { "allele": "G", "end": 4186, "referenceAllele": "C", "start": 4185 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.3600C>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.His1200Gln", "hgvsWellDefined": "NP_001077071.1:p.His1200Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825497894", "coordinates": [ { "allele": "G", "end": 3940, "referenceAllele": "C", "start": 3939 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.3795C>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.His1265Gln", "hgvsWellDefined": "NP_001077072.1:p.His1265Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825504684", "coordinates": [ { "allele": "G", "end": 3704, "referenceAllele": "C", "start": 3703 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.3345C>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.His1115Gln", "hgvsWellDefined": "NP_001077073.1:p.His1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825508192", "coordinates": [ { "allele": "G", "end": 3687, "referenceAllele": "C", "start": 3686 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.3345C>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.His1115Gln", "hgvsWellDefined": "NP_001077074.1:p.His1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825511188", "coordinates": [ { "allele": "G", "end": 3786, "referenceAllele": "C", "start": 3785 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.3345C>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.His1115Gln", "hgvsWellDefined": "NP_001077075.1:p.His1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825513932", "coordinates": [ { "allele": "G", "end": 3860, "referenceAllele": "C", "start": 3859 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.3345C>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.His1115Gln", "hgvsWellDefined": "NP_001077076.1:p.His1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828035101", "coordinates": [ { "allele": "G", "end": 3830, "referenceAllele": "C", "start": 3829 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.3642C>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.His1214Gln", "hgvsWellDefined": "NP_001341847.1:p.His1214Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "G", "end": 3820, "referenceAllele": "C", "start": 3819 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.3820C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA2741813813", "coordinates": [ { "allele": "G", "end": 4703, "referenceAllele": "C", "start": 4702 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.3798C>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.His1266Gln", "hgvsWellDefined": "NP_000255.2:p.His1266Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.3798C>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.3798C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.His1266Gln" }, "RefSeq": { "hgvs": "NP_000255.2:p.His1266Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA2825511188", "coordinates": [ { "allele": "G", "end": 3796, "referenceAllele": "C", "start": 3795 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.3345C>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.His1115Gln", "hgvsWellDefined": "NP_001077075.1:p.His1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828035101", "coordinates": [ { "allele": "G", "end": 4547, "referenceAllele": "C", "start": 4546 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.3642C>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.His1214Gln", "hgvsWellDefined": "NP_001341847.1:p.His1214Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "G", "end": 4537, "referenceAllele": "C", "start": 4536 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.4537C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825487408", "coordinates": [ { "allele": "G", "end": 4100, "referenceAllele": "C", "start": 4099 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.3600C>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.His1200Gln", "hgvsWellDefined": "NP_001077071.1:p.His1200Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825497894", "coordinates": [ { "allele": "G", "end": 3946, "referenceAllele": "C", "start": 3945 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.3795C>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.His1265Gln", "hgvsWellDefined": "NP_001077072.1:p.His1265Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.3795C>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.3795C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.His1265Gln" }, "RefSeq": { "hgvs": "NP_001077072.1:p.His1265Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA2825504684", "coordinates": [ { "allele": "G", "end": 3704, "referenceAllele": "C", "start": 3703 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.3345C>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.His1115Gln", "hgvsWellDefined": "NP_001077073.1:p.His1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825508192", "coordinates": [ { "allele": "G", "end": 3687, "referenceAllele": "C", "start": 3686 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.3345C>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.His1115Gln", "hgvsWellDefined": "NP_001077074.1:p.His1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825513932", "coordinates": [ { "allele": "G", "end": 3860, "referenceAllele": "C", "start": 3859 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.3345C>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.His1115Gln", "hgvsWellDefined": "NP_001077076.1:p.His1115Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }