{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374118001", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.1666G>A (p.Val556Ile)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=809605[alleleid]", "alleleId": 809605, "preferredName": "NM_000264.5(PTCH1):c.1666G>A (p.Val556Ile)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/819772", "RCV": [ "RCV001012624", "RCV001860715" ], "variationId": 819772 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98238378C>T?assembly=hg19", "id": "chr9:g.98238378C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95476096C>T?assembly=hg38", "id": "chr9:g.95476096C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1318405179", "rs": 1318405179 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98238378-C-T?dataset=gnomad_r2_1", "id": "9-98238378-C-T", "variant": "9:98238378 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95476096-C-T?dataset=gnomad_r4", "id": "9-95476096-C-T", "variant": "9:95476096 C / T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 95476096, "referenceAllele": "C", "start": 95476095 } ], "hgvs": [ "NC_000009.12:g.95476096C>T", "CM000671.2:g.95476096C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 98238378, "referenceAllele": "C", "start": 98238377 } ], "hgvs": [ "NC_000009.11:g.98238378C>T", "CM000671.1:g.98238378C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 97278199, "referenceAllele": "C", "start": 97278198 } ], "hgvs": [ "NC_000009.10:g.97278199C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 45870, "referenceAllele": "G", "start": 45869 } ], "hgvs": [ "NG_007664.1:g.45870G>A", "LRG_515:g.45870G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1968, "referenceAllele": "G", "start": 1967 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.1468G>A" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Val490Ile", "hgvsWellDefined": "ENSP00000518556.1:p.Val490Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "A", "end": 1814, "referenceAllele": "G", "start": 1813 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.1663G>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Val555Ile", "hgvsWellDefined": "ENSP00000389744.2:p.Val555Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1663G>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1663G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Val555Ile" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Val555Ile" } } } }, { "coordinates": [ { "allele": "A", "end": 1357, "referenceAllele": "G", "start": 1356 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.1213G>A" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:p.Val405Ile", "hgvsWellDefined": "ENSP00000509379.1:p.Val405Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "A", "end": 1354, "referenceAllele": "G", "start": 1353 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.1213G>A" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Val405Ile", "hgvsWellDefined": "ENSP00000510238.1:p.Val405Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "A", "end": 2571, "referenceAllele": "G", "start": 2570 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.1666G>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Val556Ile", "hgvsWellDefined": "ENSP00000332353.6:p.Val556Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1666G>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.1666G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Val556Ile" }, "RefSeq": { "hgvs": "NP_000255.2:p.Val556Ile" } } } }, { "coordinates": [ { "allele": "A", "end": 1966, "referenceAllele": "G", "start": 1965 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.1666G>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Val556Ile", "hgvsWellDefined": "ENSP00000332353.6:p.Val556Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "A", "end": 661, "referenceAllele": "G", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375271.4:c.661G>A" ], "proteinEffect": { "hgvs": "ENSP00000364420.4:p.Val221Ile", "hgvsWellDefined": "ENSP00000364420.4:p.Val221Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS270639" }, { "coordinates": [ { "allele": "A", "end": 1808, "referenceAllele": "G", "start": 1807 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.1663G>A" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Val555Ile", "hgvsWellDefined": "ENSP00000364423.2:p.Val555Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "A", "end": 1303, "referenceAllele": "G", "start": 1302 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.1303G>A" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:p.Val435Ile", "hgvsWellDefined": "ENSP00000364439.2:p.Val435Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "A", "end": 1728, "referenceAllele": "G", "start": 1727 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.1213G>A" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Val405Ile", "hgvsWellDefined": "ENSP00000396135.1:p.Val405Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "A", "end": 1572, "referenceAllele": "G", "start": 1571 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.1213G>A" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Val405Ile", "hgvsWellDefined": "ENSP00000399981.1:p.Val405Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "A", "end": 1654, "referenceAllele": "G", "start": 1653 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.1213G>A" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Val405Ile", "hgvsWellDefined": "ENSP00000414823.2:p.Val405Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "A", "end": 2054, "referenceAllele": "G", "start": 2053 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.1468G>A" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Val490Ile", "hgvsWellDefined": "ENSP00000410287.2:p.Val490Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "A", "end": 1962, "referenceAllele": "G", "start": 1961 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.1468G>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Val490Ile", "hgvsWellDefined": "ENSP00000389744.1:p.Val490Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "@id": "http://reg.genome.network/allele/PA645505967", "coordinates": [ { "allele": "A", "end": 1854, "referenceAllele": "G", "start": 1853 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.1666G>A", "LRG_515t1:c.1666G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Val556Ile", "hgvsWellDefined": "NP_000255.2:p.Val556Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825488649", "coordinates": [ { "allele": "A", "end": 1962, "referenceAllele": "G", "start": 1961 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.1468G>A", "LRG_515t2:c.1468G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Val490Ile", "hgvsWellDefined": "NP_001077071.1:p.Val490Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825494352", "coordinates": [ { "allele": "A", "end": 1808, "referenceAllele": "G", "start": 1807 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.1663G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Val555Ile", "hgvsWellDefined": "NP_001077072.1:p.Val555Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825501512", "coordinates": [ { "allele": "A", "end": 1572, "referenceAllele": "G", "start": 1571 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.1213G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Val405Ile", "hgvsWellDefined": "NP_001077073.1:p.Val405Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825506611", "coordinates": [ { "allele": "A", "end": 1555, "referenceAllele": "G", "start": 1554 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.1213G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Val405Ile", "hgvsWellDefined": "NP_001077074.1:p.Val405Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825509608", "coordinates": [ { "allele": "A", "end": 1654, "referenceAllele": "G", "start": 1653 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.1213G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Val405Ile", "hgvsWellDefined": "NP_001077075.1:p.Val405Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825512475", "coordinates": [ { "allele": "A", "end": 1728, "referenceAllele": "G", "start": 1727 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.1213G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Val405Ile", "hgvsWellDefined": "NP_001077076.1:p.Val405Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "A", "end": 1412, "referenceAllele": "G", "start": 1411 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.1213G>A" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Val405Ile", "hgvsWellDefined": "XP_005252159.1:p.Val405Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "A", "end": 1710, "referenceAllele": "G", "start": 1709 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.1510G>A" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Val504Ile", "hgvsWellDefined": "XP_011517170.1:p.Val504Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "A", "end": 1361, "referenceAllele": "G", "start": 1360 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.1213G>A" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Val405Ile", "hgvsWellDefined": "XP_011517171.1:p.Val405Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "A", "end": 1349, "referenceAllele": "G", "start": 1348 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.1213G>A" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Val405Ile", "hgvsWellDefined": "XP_011517172.1:p.Val405Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "A", "end": 1336, "referenceAllele": "G", "start": 1335 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.1213G>A" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Val405Ile", "hgvsWellDefined": "XP_011517173.1:p.Val405Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "A", "end": 1319, "referenceAllele": "G", "start": 1318 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.1213G>A" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Val405Ile", "hgvsWellDefined": "XP_011517174.1:p.Val405Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "A", "end": 1113, "referenceAllele": "G", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.826G>A" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Val276Ile", "hgvsWellDefined": "XP_011517175.1:p.Val276Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "A", "end": 1866, "referenceAllele": "G", "start": 1865 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.1666G>A" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Val556Ile", "hgvsWellDefined": "XP_011517176.1:p.Val556Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA645505967", "coordinates": [ { "allele": "A", "end": 1854, "referenceAllele": "G", "start": 1853 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.1666G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Val556Ile", "hgvsWellDefined": "NP_000255.2:p.Val556Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825488649", "coordinates": [ { "allele": "A", "end": 2054, "referenceAllele": "G", "start": 2053 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.1468G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Val490Ile", "hgvsWellDefined": "NP_001077071.1:p.Val490Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825494352", "coordinates": [ { "allele": "A", "end": 1808, "referenceAllele": "G", "start": 1807 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.1663G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Val555Ile", "hgvsWellDefined": "NP_001077072.1:p.Val555Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825501512", "coordinates": [ { "allele": "A", "end": 1572, "referenceAllele": "G", "start": 1571 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.1213G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Val405Ile", "hgvsWellDefined": "NP_001077073.1:p.Val405Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825506611", "coordinates": [ { "allele": "A", "end": 1555, "referenceAllele": "G", "start": 1554 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.1213G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Val405Ile", "hgvsWellDefined": "NP_001077074.1:p.Val405Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825509608", "coordinates": [ { "allele": "A", "end": 1654, "referenceAllele": "G", "start": 1653 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.1213G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Val405Ile", "hgvsWellDefined": "NP_001077075.1:p.Val405Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825512475", "coordinates": [ { "allele": "A", "end": 1728, "referenceAllele": "G", "start": 1727 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.1213G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Val405Ile", "hgvsWellDefined": "NP_001077076.1:p.Val405Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828032509", "coordinates": [ { "allele": "A", "end": 1698, "referenceAllele": "G", "start": 1697 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.1510G>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Val504Ile", "hgvsWellDefined": "NP_001341847.1:p.Val504Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "A", "end": 1854, "referenceAllele": "G", "start": 1853 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.1854G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA645505967", "coordinates": [ { "allele": "A", "end": 2571, "referenceAllele": "G", "start": 2570 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.1666G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Val556Ile", "hgvsWellDefined": "NP_000255.2:p.Val556Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1666G>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.1666G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Val556Ile" }, "RefSeq": { "hgvs": "NP_000255.2:p.Val556Ile" } } } }, { "@id": "http://reg.genome.network/allele/PA2825509608", "coordinates": [ { "allele": "A", "end": 1664, "referenceAllele": "G", "start": 1663 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.1213G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Val405Ile", "hgvsWellDefined": "NP_001077075.1:p.Val405Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828032509", "coordinates": [ { "allele": "A", "end": 2415, "referenceAllele": "G", "start": 2414 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.1510G>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Val504Ile", "hgvsWellDefined": "NP_001341847.1:p.Val504Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "A", "end": 2571, "referenceAllele": "G", "start": 2570 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.2571G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825488649", "coordinates": [ { "allele": "A", "end": 1968, "referenceAllele": "G", "start": 1967 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.1468G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Val490Ile", "hgvsWellDefined": "NP_001077071.1:p.Val490Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825494352", "coordinates": [ { "allele": "A", "end": 1814, "referenceAllele": "G", "start": 1813 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.1663G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Val555Ile", "hgvsWellDefined": "NP_001077072.1:p.Val555Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1663G>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1663G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Val555Ile" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Val555Ile" } } } }, { "@id": "http://reg.genome.network/allele/PA2825501512", "coordinates": [ { "allele": "A", "end": 1572, "referenceAllele": "G", "start": 1571 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.1213G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Val405Ile", "hgvsWellDefined": "NP_001077073.1:p.Val405Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825506611", "coordinates": [ { "allele": "A", "end": 1555, "referenceAllele": "G", "start": 1554 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.1213G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Val405Ile", "hgvsWellDefined": "NP_001077074.1:p.Val405Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825512475", "coordinates": [ { "allele": "A", "end": 1728, "referenceAllele": "G", "start": 1727 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.1213G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Val405Ile", "hgvsWellDefined": "NP_001077076.1:p.Val405Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }