{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374110610", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.3949A>G (p.Arg1317Gly)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=638462[alleleid]", "alleleId": 638462, "preferredName": "NM_000264.5(PTCH1):c.3949A>G (p.Arg1317Gly)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/645952", "RCV": [ "RCV000800138", "RCV001021497" ], "variationId": 645952 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98209589T>C?assembly=hg19", "id": "chr9:g.98209589T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95447307T>C?assembly=hg38", "id": "chr9:g.95447307T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1482005246", "rs": 1482005246 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98209589-T-C?dataset=gnomad_r2_1", "id": "9-98209589-T-C", "variant": "9:98209589 T / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95447307-T-C?dataset=gnomad_r4", "id": "9-95447307-T-C", "variant": "9:95447307 T / C" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 95447307, "referenceAllele": "T", "start": 95447306 } ], "hgvs": [ "NC_000009.12:g.95447307T>C", "CM000671.2:g.95447307T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 98209589, "referenceAllele": "T", "start": 98209588 } ], "hgvs": [ "NC_000009.11:g.98209589T>C", "CM000671.1:g.98209589T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 97249410, "referenceAllele": "T", "start": 97249409 } ], "hgvs": [ "NC_000009.10:g.97249410T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "G", "end": 74659, "referenceAllele": "A", "start": 74658 } ], "hgvs": [ "NG_007664.1:g.74659A>G", "LRG_515:g.74659A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 4251, "referenceAllele": "A", "start": 4250 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.3751A>G" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Arg1251Gly", "hgvsWellDefined": "ENSP00000518556.1:p.Arg1251Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "G", "end": 4097, "referenceAllele": "A", "start": 4096 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.3946A>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Arg1316Gly", "hgvsWellDefined": "ENSP00000389744.2:p.Arg1316Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.3946A>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.3946A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Arg1316Gly" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Arg1316Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 2146, "referenceAllele": "A", "start": 2145 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000687744.1:n.2146A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS831242" }, { "coordinates": [ { "allele": "G", "end": 3772, "referenceAllele": "A", "start": 3771 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*2257A>G" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*2257A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "G", "end": 3637, "referenceAllele": "A", "start": 3636 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.3496A>G" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Arg1166Gly", "hgvsWellDefined": "ENSP00000510238.1:p.Arg1166Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "G", "end": 1296, "referenceAllele": "A", "start": 1295 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000693534.1:n.1296A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS834291" }, { "coordinates": [ { "allele": "G", "end": 4854, "referenceAllele": "A", "start": 4853 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.3949A>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Arg1317Gly", "hgvsWellDefined": "ENSP00000332353.6:p.Arg1317Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.3949A>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.3949A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Arg1317Gly" }, "RefSeq": { "hgvs": "NP_000255.2:p.Arg1317Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 4249, "referenceAllele": "A", "start": 4248 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.3949A>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Arg1317Gly", "hgvsWellDefined": "ENSP00000332353.6:p.Arg1317Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "G", "end": 4091, "referenceAllele": "A", "start": 4090 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.3946A>G" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Arg1316Gly", "hgvsWellDefined": "ENSP00000364423.2:p.Arg1316Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "G", "end": 7255, "referenceAllele": "A", "start": 7254 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.7255A>G" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.7255A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "G", "end": 4011, "referenceAllele": "A", "start": 4010 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.3496A>G" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Arg1166Gly", "hgvsWellDefined": "ENSP00000396135.1:p.Arg1166Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "G", "end": 3855, "referenceAllele": "A", "start": 3854 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.3496A>G" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Arg1166Gly", "hgvsWellDefined": "ENSP00000399981.1:p.Arg1166Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "G", "end": 3937, "referenceAllele": "A", "start": 3936 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.3496A>G" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Arg1166Gly", "hgvsWellDefined": "ENSP00000414823.2:p.Arg1166Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "G", "end": 4337, "referenceAllele": "A", "start": 4336 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.3751A>G" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Arg1251Gly", "hgvsWellDefined": "ENSP00000410287.2:p.Arg1251Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "G", "end": 4245, "referenceAllele": "A", "start": 4244 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.3751A>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Arg1251Gly", "hgvsWellDefined": "ENSP00000389744.1:p.Arg1251Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "G", "end": 1013, "referenceAllele": "A", "start": 1012 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000546744.5:n.1013A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS365841" }, { "@id": "http://reg.genome.network/allele/PA915958431", "coordinates": [ { "allele": "G", "end": 4137, "referenceAllele": "A", "start": 4136 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.3949A>G", "LRG_515t1:c.3949A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Arg1317Gly", "hgvsWellDefined": "NP_000255.2:p.Arg1317Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825487479", "coordinates": [ { "allele": "G", "end": 4245, "referenceAllele": "A", "start": 4244 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.3751A>G", "LRG_515t2:c.3751A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Arg1251Gly", "hgvsWellDefined": "NP_001077071.1:p.Arg1251Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825498297", "coordinates": [ { "allele": "G", "end": 4091, "referenceAllele": "A", "start": 4090 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.3946A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Arg1316Gly", "hgvsWellDefined": "NP_001077072.1:p.Arg1316Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825505032", "coordinates": [ { "allele": "G", "end": 3855, "referenceAllele": "A", "start": 3854 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.3496A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Arg1166Gly", "hgvsWellDefined": "NP_001077073.1:p.Arg1166Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825508346", "coordinates": [ { "allele": "G", "end": 3838, "referenceAllele": "A", "start": 3837 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.3496A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Arg1166Gly", "hgvsWellDefined": "NP_001077074.1:p.Arg1166Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825511343", "coordinates": [ { "allele": "G", "end": 3937, "referenceAllele": "A", "start": 3936 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.3496A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Arg1166Gly", "hgvsWellDefined": "NP_001077075.1:p.Arg1166Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825514086", "coordinates": [ { "allele": "G", "end": 4011, "referenceAllele": "A", "start": 4010 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.3496A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Arg1166Gly", "hgvsWellDefined": "NP_001077076.1:p.Arg1166Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "G", "end": 3695, "referenceAllele": "A", "start": 3694 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.3496A>G" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Arg1166Gly", "hgvsWellDefined": "XP_005252159.1:p.Arg1166Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "G", "end": 3993, "referenceAllele": "A", "start": 3992 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.3793A>G" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Arg1265Gly", "hgvsWellDefined": "XP_011517170.1:p.Arg1265Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "G", "end": 3644, "referenceAllele": "A", "start": 3643 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.3496A>G" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Arg1166Gly", "hgvsWellDefined": "XP_011517171.1:p.Arg1166Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "G", "end": 3632, "referenceAllele": "A", "start": 3631 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.3496A>G" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Arg1166Gly", "hgvsWellDefined": "XP_011517172.1:p.Arg1166Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "G", "end": 3619, "referenceAllele": "A", "start": 3618 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.3496A>G" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Arg1166Gly", "hgvsWellDefined": "XP_011517173.1:p.Arg1166Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "G", "end": 3602, "referenceAllele": "A", "start": 3601 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.3496A>G" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Arg1166Gly", "hgvsWellDefined": "XP_011517174.1:p.Arg1166Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "G", "end": 3396, "referenceAllele": "A", "start": 3395 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.3109A>G" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Arg1037Gly", "hgvsWellDefined": "XP_011517175.1:p.Arg1037Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "@id": "http://reg.genome.network/allele/PA915958431", "coordinates": [ { "allele": "G", "end": 4137, "referenceAllele": "A", "start": 4136 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.3949A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Arg1317Gly", "hgvsWellDefined": "NP_000255.2:p.Arg1317Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825487479", "coordinates": [ { "allele": "G", "end": 4337, "referenceAllele": "A", "start": 4336 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.3751A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Arg1251Gly", "hgvsWellDefined": "NP_001077071.1:p.Arg1251Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825498297", "coordinates": [ { "allele": "G", "end": 4091, "referenceAllele": "A", "start": 4090 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.3946A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Arg1316Gly", "hgvsWellDefined": "NP_001077072.1:p.Arg1316Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825505032", "coordinates": [ { "allele": "G", "end": 3855, "referenceAllele": "A", "start": 3854 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.3496A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Arg1166Gly", "hgvsWellDefined": "NP_001077073.1:p.Arg1166Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825508346", "coordinates": [ { "allele": "G", "end": 3838, "referenceAllele": "A", "start": 3837 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.3496A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Arg1166Gly", "hgvsWellDefined": "NP_001077074.1:p.Arg1166Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825511343", "coordinates": [ { "allele": "G", "end": 3937, "referenceAllele": "A", "start": 3936 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.3496A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Arg1166Gly", "hgvsWellDefined": "NP_001077075.1:p.Arg1166Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825514086", "coordinates": [ { "allele": "G", "end": 4011, "referenceAllele": "A", "start": 4010 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.3496A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Arg1166Gly", "hgvsWellDefined": "NP_001077076.1:p.Arg1166Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828035332", "coordinates": [ { "allele": "G", "end": 3981, "referenceAllele": "A", "start": 3980 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.3793A>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Arg1265Gly", "hgvsWellDefined": "NP_001341847.1:p.Arg1265Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "G", "end": 3971, "referenceAllele": "A", "start": 3970 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.3971A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA915958431", "coordinates": [ { "allele": "G", "end": 4854, "referenceAllele": "A", "start": 4853 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.3949A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Arg1317Gly", "hgvsWellDefined": "NP_000255.2:p.Arg1317Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.3949A>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.3949A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Arg1317Gly" }, "RefSeq": { "hgvs": "NP_000255.2:p.Arg1317Gly" } } } }, { "@id": "http://reg.genome.network/allele/PA2825511343", "coordinates": [ { "allele": "G", "end": 3947, "referenceAllele": "A", "start": 3946 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.3496A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Arg1166Gly", "hgvsWellDefined": "NP_001077075.1:p.Arg1166Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828035332", "coordinates": [ { "allele": "G", "end": 4698, "referenceAllele": "A", "start": 4697 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.3793A>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Arg1265Gly", "hgvsWellDefined": "NP_001341847.1:p.Arg1265Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "G", "end": 4688, "referenceAllele": "A", "start": 4687 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.4688A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825487479", "coordinates": [ { "allele": "G", "end": 4251, "referenceAllele": "A", "start": 4250 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.3751A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Arg1251Gly", "hgvsWellDefined": "NP_001077071.1:p.Arg1251Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825498297", "coordinates": [ { "allele": "G", "end": 4097, "referenceAllele": "A", "start": 4096 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.3946A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Arg1316Gly", "hgvsWellDefined": "NP_001077072.1:p.Arg1316Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.3946A>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.3946A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Arg1316Gly" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Arg1316Gly" } } } }, { "@id": "http://reg.genome.network/allele/PA2825505032", "coordinates": [ { "allele": "G", "end": 3855, "referenceAllele": "A", "start": 3854 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.3496A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Arg1166Gly", "hgvsWellDefined": "NP_001077073.1:p.Arg1166Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825508346", "coordinates": [ { "allele": "G", "end": 3838, "referenceAllele": "A", "start": 3837 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.3496A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Arg1166Gly", "hgvsWellDefined": "NP_001077074.1:p.Arg1166Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825514086", "coordinates": [ { "allele": "G", "end": 4011, "referenceAllele": "A", "start": 4010 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.3496A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Arg1166Gly", "hgvsWellDefined": "NP_001077076.1:p.Arg1166Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }