{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16612821", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.3605C>G (p.Pro1202Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=397348[alleleid]", "alleleId": 397348, "preferredName": "NM_000264.5(PTCH1):c.3605C>G (p.Pro1202Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/409196", "RCV": [ "RCV000472402", "RCV001020701" ], "variationId": 409196 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98211550G>C?assembly=hg19", "id": "chr9:g.98211550G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95449268G>C?assembly=hg38", "id": "chr9:g.95449268G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/374097441", "rs": 374097441 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98211550-G-C?dataset=gnomad_r2_1", "id": "9-98211550-G-C", "variant": "9:98211550 G / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95449268-G-C?dataset=gnomad_r3", "id": "9-95449268-G-C", "variant": "9:95449268 G / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95449268-G-C?dataset=gnomad_r4", "id": "9-95449268-G-C", "variant": "9:95449268 G / C" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 95449268, "referenceAllele": "G", "start": 95449267 } ], "hgvs": [ "NC_000009.12:g.95449268G>C", "CM000671.2:g.95449268G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 98211550, "referenceAllele": "G", "start": 98211549 } ], "hgvs": [ "NC_000009.11:g.98211550G>C", "CM000671.1:g.98211550G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 97251371, "referenceAllele": "G", "start": 97251370 } ], "hgvs": [ "NC_000009.10:g.97251371G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "G", "end": 72698, "referenceAllele": "C", "start": 72697 } ], "hgvs": [ "NG_007664.1:g.72698C>G", "LRG_515:g.72698C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 3907, "referenceAllele": "C", "start": 3906 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.3407C>G" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Pro1136Arg", "hgvsWellDefined": "ENSP00000518556.1:p.Pro1136Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "G", "end": 3753, "referenceAllele": "C", "start": 3752 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.3602C>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Pro1201Arg", "hgvsWellDefined": "ENSP00000389744.2:p.Pro1201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.3602C>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.3602C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Pro1201Arg" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Pro1201Arg" } } } }, { "coordinates": [ { "allele": "G", "end": 1802, "referenceAllele": "C", "start": 1801 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000687744.1:n.1802C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS831242" }, { "coordinates": [ { "allele": "G", "end": 3428, "referenceAllele": "C", "start": 3427 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*1913C>G" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*1913C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "G", "end": 3293, "referenceAllele": "C", "start": 3292 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.3152C>G" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Pro1051Arg", "hgvsWellDefined": "ENSP00000510238.1:p.Pro1051Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "G", "end": 952, "referenceAllele": "C", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000693534.1:n.952C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS834291" }, { "coordinates": [ { "allele": "G", "end": 4510, "referenceAllele": "C", "start": 4509 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.3605C>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Pro1202Arg", "hgvsWellDefined": "ENSP00000332353.6:p.Pro1202Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.3605C>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.3605C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Pro1202Arg" }, "RefSeq": { "hgvs": "NP_000255.2:p.Pro1202Arg" } } } }, { "coordinates": [ { "allele": "G", "end": 3905, "referenceAllele": "C", "start": 3904 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.3605C>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Pro1202Arg", "hgvsWellDefined": "ENSP00000332353.6:p.Pro1202Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "G", "end": 3747, "referenceAllele": "C", "start": 3746 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.3602C>G" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Pro1201Arg", "hgvsWellDefined": "ENSP00000364423.2:p.Pro1201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "G", "end": 6911, "referenceAllele": "C", "start": 6910 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.6911C>G" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.6911C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "G", "end": 3667, "referenceAllele": "C", "start": 3666 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.3152C>G" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Pro1051Arg", "hgvsWellDefined": "ENSP00000396135.1:p.Pro1051Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "G", "end": 3511, "referenceAllele": "C", "start": 3510 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.3152C>G" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Pro1051Arg", "hgvsWellDefined": "ENSP00000399981.1:p.Pro1051Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "G", "end": 3593, "referenceAllele": "C", "start": 3592 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.3152C>G" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Pro1051Arg", "hgvsWellDefined": "ENSP00000414823.2:p.Pro1051Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "G", "end": 3993, "referenceAllele": "C", "start": 3992 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.3407C>G" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Pro1136Arg", "hgvsWellDefined": "ENSP00000410287.2:p.Pro1136Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "G", "end": 3901, "referenceAllele": "C", "start": 3900 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.3407C>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Pro1136Arg", "hgvsWellDefined": "ENSP00000389744.1:p.Pro1136Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "G", "end": 669, "referenceAllele": "C", "start": 668 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000546744.5:n.669C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS365841" }, { "@id": "http://reg.genome.network/allele/PA645506582", "coordinates": [ { "allele": "G", "end": 3793, "referenceAllele": "C", "start": 3792 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.3605C>G", "LRG_515t1:c.3605C>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Pro1202Arg", "hgvsWellDefined": "NP_000255.2:p.Pro1202Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825490704", "coordinates": [ { "allele": "G", "end": 3901, "referenceAllele": "C", "start": 3900 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.3407C>G", "LRG_515t2:c.3407C>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Pro1136Arg", "hgvsWellDefined": "NP_001077071.1:p.Pro1136Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825497494", "coordinates": [ { "allele": "G", "end": 3747, "referenceAllele": "C", "start": 3746 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.3602C>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Pro1201Arg", "hgvsWellDefined": "NP_001077072.1:p.Pro1201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825504328", "coordinates": [ { "allele": "G", "end": 3511, "referenceAllele": "C", "start": 3510 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.3152C>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Pro1051Arg", "hgvsWellDefined": "NP_001077073.1:p.Pro1051Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825508019", "coordinates": [ { "allele": "G", "end": 3494, "referenceAllele": "C", "start": 3493 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.3152C>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Pro1051Arg", "hgvsWellDefined": "NP_001077074.1:p.Pro1051Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825511015", "coordinates": [ { "allele": "G", "end": 3593, "referenceAllele": "C", "start": 3592 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.3152C>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Pro1051Arg", "hgvsWellDefined": "NP_001077075.1:p.Pro1051Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825513760", "coordinates": [ { "allele": "G", "end": 3667, "referenceAllele": "C", "start": 3666 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.3152C>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Pro1051Arg", "hgvsWellDefined": "NP_001077076.1:p.Pro1051Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "G", "end": 3351, "referenceAllele": "C", "start": 3350 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.3152C>G" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Pro1051Arg", "hgvsWellDefined": "XP_005252159.1:p.Pro1051Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "G", "end": 3649, "referenceAllele": "C", "start": 3648 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.3449C>G" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Pro1150Arg", "hgvsWellDefined": "XP_011517170.1:p.Pro1150Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "G", "end": 3300, "referenceAllele": "C", "start": 3299 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.3152C>G" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Pro1051Arg", "hgvsWellDefined": "XP_011517171.1:p.Pro1051Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "G", "end": 3288, "referenceAllele": "C", "start": 3287 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.3152C>G" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Pro1051Arg", "hgvsWellDefined": "XP_011517172.1:p.Pro1051Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "G", "end": 3275, "referenceAllele": "C", "start": 3274 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.3152C>G" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Pro1051Arg", "hgvsWellDefined": "XP_011517173.1:p.Pro1051Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "G", "end": 3258, "referenceAllele": "C", "start": 3257 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.3152C>G" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Pro1051Arg", "hgvsWellDefined": "XP_011517174.1:p.Pro1051Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "G", "end": 3052, "referenceAllele": "C", "start": 3051 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.2765C>G" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Pro922Arg", "hgvsWellDefined": "XP_011517175.1:p.Pro922Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "@id": "http://reg.genome.network/allele/PA645506582", "coordinates": [ { "allele": "G", "end": 3793, "referenceAllele": "C", "start": 3792 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.3605C>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Pro1202Arg", "hgvsWellDefined": "NP_000255.2:p.Pro1202Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825490704", "coordinates": [ { "allele": "G", "end": 3993, "referenceAllele": "C", "start": 3992 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.3407C>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Pro1136Arg", "hgvsWellDefined": "NP_001077071.1:p.Pro1136Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825497494", "coordinates": [ { "allele": "G", "end": 3747, "referenceAllele": "C", "start": 3746 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.3602C>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Pro1201Arg", "hgvsWellDefined": "NP_001077072.1:p.Pro1201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825504328", "coordinates": [ { "allele": "G", "end": 3511, "referenceAllele": "C", "start": 3510 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.3152C>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Pro1051Arg", "hgvsWellDefined": "NP_001077073.1:p.Pro1051Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825508019", "coordinates": [ { "allele": "G", "end": 3494, "referenceAllele": "C", "start": 3493 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.3152C>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Pro1051Arg", "hgvsWellDefined": "NP_001077074.1:p.Pro1051Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825511015", "coordinates": [ { "allele": "G", "end": 3593, "referenceAllele": "C", "start": 3592 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.3152C>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Pro1051Arg", "hgvsWellDefined": "NP_001077075.1:p.Pro1051Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825513760", "coordinates": [ { "allele": "G", "end": 3667, "referenceAllele": "C", "start": 3666 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.3152C>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Pro1051Arg", "hgvsWellDefined": "NP_001077076.1:p.Pro1051Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828034774", "coordinates": [ { "allele": "G", "end": 3637, "referenceAllele": "C", "start": 3636 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.3449C>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Pro1150Arg", "hgvsWellDefined": "NP_001341847.1:p.Pro1150Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "G", "end": 3627, "referenceAllele": "C", "start": 3626 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.3627C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA645506582", "coordinates": [ { "allele": "G", "end": 4510, "referenceAllele": "C", "start": 4509 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.3605C>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Pro1202Arg", "hgvsWellDefined": "NP_000255.2:p.Pro1202Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.3605C>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.3605C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Pro1202Arg" }, "RefSeq": { "hgvs": "NP_000255.2:p.Pro1202Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2825511015", "coordinates": [ { "allele": "G", "end": 3603, "referenceAllele": "C", "start": 3602 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.3152C>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Pro1051Arg", "hgvsWellDefined": "NP_001077075.1:p.Pro1051Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828034774", "coordinates": [ { "allele": "G", "end": 4354, "referenceAllele": "C", "start": 4353 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.3449C>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Pro1150Arg", "hgvsWellDefined": "NP_001341847.1:p.Pro1150Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "G", "end": 4344, "referenceAllele": "C", "start": 4343 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.4344C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825490704", "coordinates": [ { "allele": "G", "end": 3907, "referenceAllele": "C", "start": 3906 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.3407C>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Pro1136Arg", "hgvsWellDefined": "NP_001077071.1:p.Pro1136Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825497494", "coordinates": [ { "allele": "G", "end": 3753, "referenceAllele": "C", "start": 3752 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.3602C>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Pro1201Arg", "hgvsWellDefined": "NP_001077072.1:p.Pro1201Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.3602C>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.3602C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Pro1201Arg" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Pro1201Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2825504328", "coordinates": [ { "allele": "G", "end": 3511, "referenceAllele": "C", "start": 3510 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.3152C>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Pro1051Arg", "hgvsWellDefined": "NP_001077073.1:p.Pro1051Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825508019", "coordinates": [ { "allele": "G", "end": 3494, "referenceAllele": "C", "start": 3493 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.3152C>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Pro1051Arg", "hgvsWellDefined": "NP_001077074.1:p.Pro1051Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825513760", "coordinates": [ { "allele": "G", "end": 3667, "referenceAllele": "C", "start": 3666 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.3152C>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Pro1051Arg", "hgvsWellDefined": "NP_001077076.1:p.Pro1051Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }