{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374119404", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.1128C>A (p.Phe376Leu)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98241369G>T?assembly=hg19", "id": "chr9:g.98241369G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95479087G>T?assembly=hg38", "id": "chr9:g.95479087G>T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 95479087, "referenceAllele": "G", "start": 95479086 } ], "hgvs": [ "NC_000009.12:g.95479087G>T", "CM000671.2:g.95479087G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 98241369, "referenceAllele": "G", "start": 98241368 } ], "hgvs": [ "NC_000009.11:g.98241369G>T", "CM000671.1:g.98241369G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 97281190, "referenceAllele": "G", "start": 97281189 } ], "hgvs": [ "NC_000009.10:g.97281190G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 42879, "referenceAllele": "C", "start": 42878 } ], "hgvs": [ "NG_007664.1:g.42879C>A", "LRG_515:g.42879C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1430, "referenceAllele": "C", "start": 1429 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.930C>A" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Phe310Leu", "hgvsWellDefined": "ENSP00000518556.1:p.Phe310Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "A", "end": 1276, "referenceAllele": "C", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.1125C>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Phe375Leu", "hgvsWellDefined": "ENSP00000389744.2:p.Phe375Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1125C>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1125C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Phe375Leu" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Phe375Leu" } } } }, { "coordinates": [ { "allele": "A", "end": 819, "referenceAllele": "C", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.675C>A" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:p.Phe225Leu", "hgvsWellDefined": "ENSP00000509379.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "A", "end": 816, "referenceAllele": "C", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.675C>A" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Phe225Leu", "hgvsWellDefined": "ENSP00000510238.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "A", "end": 2033, "referenceAllele": "C", "start": 2032 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.1128C>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Phe376Leu", "hgvsWellDefined": "ENSP00000332353.6:p.Phe376Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1128C>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.1128C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Phe376Leu" }, "RefSeq": { "hgvs": "NP_000255.2:p.Phe376Leu" } } } }, { "coordinates": [ { "allele": "A", "end": 1428, "referenceAllele": "C", "start": 1427 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.1128C>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Phe376Leu", "hgvsWellDefined": "ENSP00000332353.6:p.Phe376Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "A", "end": 279, "referenceAllele": "C", "start": 278 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375271.4:c.279C>A" ], "proteinEffect": { "hgvs": "ENSP00000364420.4:p.Phe93Leu", "hgvsWellDefined": "ENSP00000364420.4:p.Phe93Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS270639" }, { "coordinates": [ { "allele": "A", "end": 1270, "referenceAllele": "C", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.1125C>A" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Phe375Leu", "hgvsWellDefined": "ENSP00000364423.2:p.Phe375Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "A", "end": 765, "referenceAllele": "C", "start": 764 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.765C>A" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:p.Phe255Leu", "hgvsWellDefined": "ENSP00000364439.2:p.Phe255Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "A", "end": 1190, "referenceAllele": "C", "start": 1189 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.675C>A" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Phe225Leu", "hgvsWellDefined": "ENSP00000396135.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "A", "end": 1034, "referenceAllele": "C", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.675C>A" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Phe225Leu", "hgvsWellDefined": "ENSP00000399981.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "C", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.675C>A" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Phe225Leu", "hgvsWellDefined": "ENSP00000414823.2:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "A", "end": 1516, "referenceAllele": "C", "start": 1515 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.930C>A" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Phe310Leu", "hgvsWellDefined": "ENSP00000410287.2:p.Phe310Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "A", "end": 1424, "referenceAllele": "C", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.930C>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Phe310Leu", "hgvsWellDefined": "ENSP00000389744.1:p.Phe310Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "@id": "http://reg.genome.network/allele/PA337682", "coordinates": [ { "allele": "A", "end": 1316, "referenceAllele": "C", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.1128C>A", "LRG_515t1:c.1128C>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Phe376Leu", "hgvsWellDefined": "NP_000255.2:p.Phe376Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA337681", "coordinates": [ { "allele": "A", "end": 1424, "referenceAllele": "C", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.930C>A", "LRG_515t2:c.930C>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Phe310Leu", "hgvsWellDefined": "NP_001077071.1:p.Phe310Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825493135", "coordinates": [ { "allele": "A", "end": 1270, "referenceAllele": "C", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.1125C>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Phe375Leu", "hgvsWellDefined": "NP_001077072.1:p.Phe375Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825500418", "coordinates": [ { "allele": "A", "end": 1034, "referenceAllele": "C", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.675C>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Phe225Leu", "hgvsWellDefined": "NP_001077073.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825506227", "coordinates": [ { "allele": "A", "end": 1017, "referenceAllele": "C", "start": 1016 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.675C>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Phe225Leu", "hgvsWellDefined": "NP_001077074.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825509224", "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "C", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.675C>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Phe225Leu", "hgvsWellDefined": "NP_001077075.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825512091", "coordinates": [ { "allele": "A", "end": 1190, "referenceAllele": "C", "start": 1189 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.675C>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Phe225Leu", "hgvsWellDefined": "NP_001077076.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "A", "end": 874, "referenceAllele": "C", "start": 873 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.675C>A" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Phe225Leu", "hgvsWellDefined": "XP_005252159.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "A", "end": 1328, "referenceAllele": "C", "start": 1327 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.1128C>A" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Phe376Leu", "hgvsWellDefined": "XP_011517170.1:p.Phe376Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "A", "end": 823, "referenceAllele": "C", "start": 822 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.675C>A" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Phe225Leu", "hgvsWellDefined": "XP_011517171.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "A", "end": 811, "referenceAllele": "C", "start": 810 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.675C>A" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Phe225Leu", "hgvsWellDefined": "XP_011517172.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "A", "end": 798, "referenceAllele": "C", "start": 797 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.675C>A" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Phe225Leu", "hgvsWellDefined": "XP_011517173.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "A", "end": 781, "referenceAllele": "C", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.675C>A" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Phe225Leu", "hgvsWellDefined": "XP_011517174.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "A", "end": 575, "referenceAllele": "C", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.288C>A" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Phe96Leu", "hgvsWellDefined": "XP_011517175.1:p.Phe96Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "A", "end": 1328, "referenceAllele": "C", "start": 1327 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.1128C>A" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Phe376Leu", "hgvsWellDefined": "XP_011517176.1:p.Phe376Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA337682", "coordinates": [ { "allele": "A", "end": 1316, "referenceAllele": "C", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.1128C>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Phe376Leu", "hgvsWellDefined": "NP_000255.2:p.Phe376Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA337681", "coordinates": [ { "allele": "A", "end": 1516, "referenceAllele": "C", "start": 1515 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.930C>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Phe310Leu", "hgvsWellDefined": "NP_001077071.1:p.Phe310Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825493135", "coordinates": [ { "allele": "A", "end": 1270, "referenceAllele": "C", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.1125C>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Phe375Leu", "hgvsWellDefined": "NP_001077072.1:p.Phe375Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825500418", "coordinates": [ { "allele": "A", "end": 1034, "referenceAllele": "C", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.675C>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Phe225Leu", "hgvsWellDefined": "NP_001077073.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825506227", "coordinates": [ { "allele": "A", "end": 1017, "referenceAllele": "C", "start": 1016 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.675C>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Phe225Leu", "hgvsWellDefined": "NP_001077074.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825509224", "coordinates": [ { "allele": "A", "end": 1116, "referenceAllele": "C", "start": 1115 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.675C>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Phe225Leu", "hgvsWellDefined": "NP_001077075.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825512091", "coordinates": [ { "allele": "A", "end": 1190, "referenceAllele": "C", "start": 1189 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.675C>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Phe225Leu", "hgvsWellDefined": "NP_001077076.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA916042898", "coordinates": [ { "allele": "A", "end": 1316, "referenceAllele": "C", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.1128C>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Phe376Leu", "hgvsWellDefined": "NP_001341847.1:p.Phe376Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "A", "end": 1316, "referenceAllele": "C", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.1316C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA337682", "coordinates": [ { "allele": "A", "end": 2033, "referenceAllele": "C", "start": 2032 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.1128C>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Phe376Leu", "hgvsWellDefined": "NP_000255.2:p.Phe376Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1128C>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.1128C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Phe376Leu" }, "RefSeq": { "hgvs": "NP_000255.2:p.Phe376Leu" } } } }, { "@id": "http://reg.genome.network/allele/PA2825509224", "coordinates": [ { "allele": "A", "end": 1126, "referenceAllele": "C", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.675C>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Phe225Leu", "hgvsWellDefined": "NP_001077075.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA916042898", "coordinates": [ { "allele": "A", "end": 2033, "referenceAllele": "C", "start": 2032 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.1128C>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Phe376Leu", "hgvsWellDefined": "NP_001341847.1:p.Phe376Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "A", "end": 2033, "referenceAllele": "C", "start": 2032 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.2033C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA337681", "coordinates": [ { "allele": "A", "end": 1430, "referenceAllele": "C", "start": 1429 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.930C>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Phe310Leu", "hgvsWellDefined": "NP_001077071.1:p.Phe310Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825493135", "coordinates": [ { "allele": "A", "end": 1276, "referenceAllele": "C", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.1125C>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Phe375Leu", "hgvsWellDefined": "NP_001077072.1:p.Phe375Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1125C>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1125C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Phe375Leu" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Phe375Leu" } } } }, { "@id": "http://reg.genome.network/allele/PA2825500418", "coordinates": [ { "allele": "A", "end": 1034, "referenceAllele": "C", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.675C>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Phe225Leu", "hgvsWellDefined": "NP_001077073.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825506227", "coordinates": [ { "allele": "A", "end": 1017, "referenceAllele": "C", "start": 1016 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.675C>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Phe225Leu", "hgvsWellDefined": "NP_001077074.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825512091", "coordinates": [ { "allele": "A", "end": 1190, "referenceAllele": "C", "start": 1189 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.675C>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Phe225Leu", "hgvsWellDefined": "NP_001077076.1:p.Phe225Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }