{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA349173", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.4313A>G (p.Glu1438Gly)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=221865[alleleid]", "alleleId": 221865, "preferredName": "NM_000264.5(PTCH1):c.4313A>G (p.Glu1438Gly)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/220426", "RCV": [ "RCV000205005", "RCV001022274", "RCV002460987", "RCV002485350" ], "variationId": 220426 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98209225T>C?assembly=hg19", "id": "chr9:g.98209225T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95446943T>C?assembly=hg38", "id": "chr9:g.95446943T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/150696398", "rs": 150696398 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98209225-T-C?dataset=gnomad_r2_1", "id": "9-98209225-T-C", "variant": "9:98209225 T / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95446943-T-C?dataset=gnomad_r3", "id": "9-95446943-T-C", "variant": "9:95446943 T / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95446943-T-C?dataset=gnomad_r4", "id": "9-95446943-T-C", "variant": "9:95446943 T / C" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 95446943, "referenceAllele": "T", "start": 95446942 } ], "hgvs": [ "NC_000009.12:g.95446943T>C", "CM000671.2:g.95446943T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 98209225, "referenceAllele": "T", "start": 98209224 } ], "hgvs": [ "NC_000009.11:g.98209225T>C", "CM000671.1:g.98209225T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 97249046, "referenceAllele": "T", "start": 97249045 } ], "hgvs": [ "NC_000009.10:g.97249046T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "G", "end": 75023, "referenceAllele": "A", "start": 75022 } ], "hgvs": [ "NG_007664.1:g.75023A>G", "LRG_515:g.75023A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 4615, "referenceAllele": "A", "start": 4614 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.4115A>G" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Glu1372Gly", "hgvsWellDefined": "ENSP00000518556.1:p.Glu1372Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "G", "end": 4461, "referenceAllele": "A", "start": 4460 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.4310A>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Glu1437Gly", "hgvsWellDefined": "ENSP00000389744.2:p.Glu1437Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.4310A>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.4310A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Glu1437Gly" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Glu1437Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 2510, "referenceAllele": "A", "start": 2509 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000687744.1:n.2510A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS831242" }, { "coordinates": [ { "allele": "G", "end": 4136, "referenceAllele": "A", "start": 4135 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*2621A>G" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*2621A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "G", "end": 4001, "referenceAllele": "A", "start": 4000 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.3860A>G" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Glu1287Gly", "hgvsWellDefined": "ENSP00000510238.1:p.Glu1287Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "G", "end": 1660, "referenceAllele": "A", "start": 1659 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000693534.1:n.1660A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS834291" }, { "coordinates": [ { "allele": "G", "end": 5218, "referenceAllele": "A", "start": 5217 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.4313A>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Glu1438Gly", "hgvsWellDefined": "ENSP00000332353.6:p.Glu1438Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.4313A>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.4313A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Glu1438Gly" }, "RefSeq": { "hgvs": "NP_000255.2:p.Glu1438Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 4613, "referenceAllele": "A", "start": 4612 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.4313A>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Glu1438Gly", "hgvsWellDefined": "ENSP00000332353.6:p.Glu1438Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "G", "end": 4455, "referenceAllele": "A", "start": 4454 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.4310A>G" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Glu1437Gly", "hgvsWellDefined": "ENSP00000364423.2:p.Glu1437Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "G", "end": 7619, "referenceAllele": "A", "start": 7618 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.7619A>G" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.7619A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "G", "end": 4375, "referenceAllele": "A", "start": 4374 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.3860A>G" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Glu1287Gly", "hgvsWellDefined": "ENSP00000396135.1:p.Glu1287Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "G", "end": 4219, "referenceAllele": "A", "start": 4218 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.3860A>G" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Glu1287Gly", "hgvsWellDefined": "ENSP00000399981.1:p.Glu1287Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "G", "end": 4301, "referenceAllele": "A", "start": 4300 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.3860A>G" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Glu1287Gly", "hgvsWellDefined": "ENSP00000414823.2:p.Glu1287Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "G", "end": 4701, "referenceAllele": "A", "start": 4700 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.4115A>G" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Glu1372Gly", "hgvsWellDefined": "ENSP00000410287.2:p.Glu1372Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "G", "end": 4609, "referenceAllele": "A", "start": 4608 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.4115A>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Glu1372Gly", "hgvsWellDefined": "ENSP00000389744.1:p.Glu1372Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "G", "end": 1377, "referenceAllele": "A", "start": 1376 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000546744.5:n.1377A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS365841" }, { "@id": "http://reg.genome.network/allele/PA355601", "coordinates": [ { "allele": "G", "end": 4501, "referenceAllele": "A", "start": 4500 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.4313A>G", "LRG_515t1:c.4313A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Glu1438Gly", "hgvsWellDefined": "NP_000255.2:p.Glu1438Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA349175", "coordinates": [ { "allele": "G", "end": 4609, "referenceAllele": "A", "start": 4608 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.4115A>G", "LRG_515t2:c.4115A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Glu1372Gly", "hgvsWellDefined": "NP_001077071.1:p.Glu1372Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825499129", "coordinates": [ { "allele": "G", "end": 4455, "referenceAllele": "A", "start": 4454 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.4310A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Glu1437Gly", "hgvsWellDefined": "NP_001077072.1:p.Glu1437Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825505705", "coordinates": [ { "allele": "G", "end": 4219, "referenceAllele": "A", "start": 4218 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.3860A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Glu1287Gly", "hgvsWellDefined": "NP_001077073.1:p.Glu1287Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825508703", "coordinates": [ { "allele": "G", "end": 4202, "referenceAllele": "A", "start": 4201 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.3860A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Glu1287Gly", "hgvsWellDefined": "NP_001077074.1:p.Glu1287Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825511700", "coordinates": [ { "allele": "G", "end": 4301, "referenceAllele": "A", "start": 4300 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.3860A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Glu1287Gly", "hgvsWellDefined": "NP_001077075.1:p.Glu1287Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825514444", "coordinates": [ { "allele": "G", "end": 4375, "referenceAllele": "A", "start": 4374 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.3860A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Glu1287Gly", "hgvsWellDefined": "NP_001077076.1:p.Glu1287Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "G", "end": 4059, "referenceAllele": "A", "start": 4058 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.3860A>G" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Glu1287Gly", "hgvsWellDefined": "XP_005252159.1:p.Glu1287Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "G", "end": 4357, "referenceAllele": "A", "start": 4356 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.4157A>G" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Glu1386Gly", "hgvsWellDefined": "XP_011517170.1:p.Glu1386Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "G", "end": 4008, "referenceAllele": "A", "start": 4007 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.3860A>G" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Glu1287Gly", "hgvsWellDefined": "XP_011517171.1:p.Glu1287Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "G", "end": 3996, "referenceAllele": "A", "start": 3995 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.3860A>G" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Glu1287Gly", "hgvsWellDefined": "XP_011517172.1:p.Glu1287Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "G", "end": 3983, "referenceAllele": "A", "start": 3982 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.3860A>G" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Glu1287Gly", "hgvsWellDefined": "XP_011517173.1:p.Glu1287Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "G", "end": 3966, "referenceAllele": "A", "start": 3965 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.3860A>G" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Glu1287Gly", "hgvsWellDefined": "XP_011517174.1:p.Glu1287Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "G", "end": 3760, "referenceAllele": "A", "start": 3759 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.3473A>G" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Glu1158Gly", "hgvsWellDefined": "XP_011517175.1:p.Glu1158Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "@id": "http://reg.genome.network/allele/PA355601", "coordinates": [ { "allele": "G", "end": 4501, "referenceAllele": "A", "start": 4500 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.4313A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Glu1438Gly", "hgvsWellDefined": "NP_000255.2:p.Glu1438Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA349175", "coordinates": [ { "allele": "G", "end": 4701, "referenceAllele": "A", "start": 4700 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.4115A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Glu1372Gly", "hgvsWellDefined": "NP_001077071.1:p.Glu1372Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825499129", "coordinates": [ { "allele": "G", "end": 4455, "referenceAllele": "A", "start": 4454 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.4310A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Glu1437Gly", "hgvsWellDefined": "NP_001077072.1:p.Glu1437Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825505705", "coordinates": [ { "allele": "G", "end": 4219, "referenceAllele": "A", "start": 4218 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.3860A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Glu1287Gly", "hgvsWellDefined": "NP_001077073.1:p.Glu1287Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825508703", "coordinates": [ { "allele": "G", "end": 4202, "referenceAllele": "A", "start": 4201 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.3860A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Glu1287Gly", "hgvsWellDefined": "NP_001077074.1:p.Glu1287Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825511700", "coordinates": [ { "allele": "G", "end": 4301, "referenceAllele": "A", "start": 4300 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.3860A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Glu1287Gly", "hgvsWellDefined": "NP_001077075.1:p.Glu1287Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825514444", "coordinates": [ { "allele": "G", "end": 4375, "referenceAllele": "A", "start": 4374 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.3860A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Glu1287Gly", "hgvsWellDefined": "NP_001077076.1:p.Glu1287Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828035996", "coordinates": [ { "allele": "G", "end": 4345, "referenceAllele": "A", "start": 4344 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.4157A>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Glu1386Gly", "hgvsWellDefined": "NP_001341847.1:p.Glu1386Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "G", "end": 4335, "referenceAllele": "A", "start": 4334 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.4335A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA355601", "coordinates": [ { "allele": "G", "end": 5218, "referenceAllele": "A", "start": 5217 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.4313A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Glu1438Gly", "hgvsWellDefined": "NP_000255.2:p.Glu1438Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.4313A>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.4313A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Glu1438Gly" }, "RefSeq": { "hgvs": "NP_000255.2:p.Glu1438Gly" } } } }, { "@id": "http://reg.genome.network/allele/PA2825511700", "coordinates": [ { "allele": "G", "end": 4311, "referenceAllele": "A", "start": 4310 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.3860A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Glu1287Gly", "hgvsWellDefined": "NP_001077075.1:p.Glu1287Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828035996", "coordinates": [ { "allele": "G", "end": 5062, "referenceAllele": "A", "start": 5061 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.4157A>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Glu1386Gly", "hgvsWellDefined": "NP_001341847.1:p.Glu1386Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "G", "end": 5052, "referenceAllele": "A", "start": 5051 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.5052A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA349175", "coordinates": [ { "allele": "G", "end": 4615, "referenceAllele": "A", "start": 4614 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.4115A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Glu1372Gly", "hgvsWellDefined": "NP_001077071.1:p.Glu1372Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825499129", "coordinates": [ { "allele": "G", "end": 4461, "referenceAllele": "A", "start": 4460 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.4310A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Glu1437Gly", "hgvsWellDefined": "NP_001077072.1:p.Glu1437Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.4310A>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.4310A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Glu1437Gly" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Glu1437Gly" } } } }, { "@id": "http://reg.genome.network/allele/PA2825505705", "coordinates": [ { "allele": "G", "end": 4219, "referenceAllele": "A", "start": 4218 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.3860A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Glu1287Gly", "hgvsWellDefined": "NP_001077073.1:p.Glu1287Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825508703", "coordinates": [ { "allele": "G", "end": 4202, "referenceAllele": "A", "start": 4201 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.3860A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Glu1287Gly", "hgvsWellDefined": "NP_001077074.1:p.Glu1287Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825514444", "coordinates": [ { "allele": "G", "end": 4375, "referenceAllele": "A", "start": 4374 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.3860A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Glu1287Gly", "hgvsWellDefined": "NP_001077076.1:p.Glu1287Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }