{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA161749", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50106[alleleid]", "alleleId": 50106, "preferredName": "NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41667", "RCV": [ "RCV000034579", "RCV000123037", "RCV000121903", "RCV000340228", "RCV000575546", "RCV004549400" ], "variationId": 41667 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-98209213-C-T", "id": "9-98209213-C-T", "variant": "9:98209213 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98209213C>T?assembly=hg19", "id": "chr9:g.98209213C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95446931C>T?assembly=hg38", "id": "chr9:g.95446931C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/56023271", "rs": 56023271 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98209213-C-T?dataset=gnomad_r2_1", "id": "9-98209213-C-T", "variant": "9:98209213 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95446931-C-T?dataset=gnomad_r3", "id": "9-95446931-C-T", "variant": "9:95446931 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95446931-C-T?dataset=gnomad_r4", "id": "9-95446931-C-T", "variant": "9:95446931 C / T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 95446931, "referenceAllele": "C", "start": 95446930 } ], "hgvs": [ "NC_000009.12:g.95446931C>T", "CM000671.2:g.95446931C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 98209213, "referenceAllele": "C", "start": 98209212 } ], "hgvs": [ "NC_000009.11:g.98209213C>T", "CM000671.1:g.98209213C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 97249034, "referenceAllele": "C", "start": 97249033 } ], "hgvs": [ "NC_000009.10:g.97249034C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 75035, "referenceAllele": "G", "start": 75034 } ], "hgvs": [ "NG_007664.1:g.75035G>A", "LRG_515:g.75035G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4627, "referenceAllele": "G", "start": 4626 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.4127G>A" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Arg1376Gln", "hgvsWellDefined": "ENSP00000518556.1:p.Arg1376Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "A", "end": 4473, "referenceAllele": "G", "start": 4472 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.4322G>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Arg1441Gln", "hgvsWellDefined": "ENSP00000389744.2:p.Arg1441Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.4322G>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.4322G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Arg1441Gln" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Arg1441Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 2522, "referenceAllele": "G", "start": 2521 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000687744.1:n.2522G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831242" }, { "coordinates": [ { "allele": "A", "end": 4148, "referenceAllele": "G", "start": 4147 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*2633G>A" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*2633G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "A", "end": 4013, "referenceAllele": "G", "start": 4012 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.3872G>A" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Arg1291Gln", "hgvsWellDefined": "ENSP00000510238.1:p.Arg1291Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "A", "end": 1672, "referenceAllele": "G", "start": 1671 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000693534.1:n.1672G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS834291" }, { "coordinates": [ { "allele": "A", "end": 5230, "referenceAllele": "G", "start": 5229 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.4325G>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Arg1442Gln", "hgvsWellDefined": "ENSP00000332353.6:p.Arg1442Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.4325G>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.4325G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Arg1442Gln" }, "RefSeq": { "hgvs": "NP_000255.2:p.Arg1442Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 4625, "referenceAllele": "G", "start": 4624 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.4325G>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Arg1442Gln", "hgvsWellDefined": "ENSP00000332353.6:p.Arg1442Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "A", "end": 4467, "referenceAllele": "G", "start": 4466 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.4322G>A" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Arg1441Gln", "hgvsWellDefined": "ENSP00000364423.2:p.Arg1441Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "A", "end": 7631, "referenceAllele": "G", "start": 7630 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.7631G>A" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.7631G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "A", "end": 4387, "referenceAllele": "G", "start": 4386 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.3872G>A" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Arg1291Gln", "hgvsWellDefined": "ENSP00000396135.1:p.Arg1291Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "A", "end": 4231, "referenceAllele": "G", "start": 4230 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.3872G>A" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Arg1291Gln", "hgvsWellDefined": "ENSP00000399981.1:p.Arg1291Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "A", "end": 4313, "referenceAllele": "G", "start": 4312 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.3872G>A" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Arg1291Gln", "hgvsWellDefined": "ENSP00000414823.2:p.Arg1291Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "A", "end": 4713, "referenceAllele": "G", "start": 4712 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.4127G>A" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Arg1376Gln", "hgvsWellDefined": "ENSP00000410287.2:p.Arg1376Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "A", "end": 4621, "referenceAllele": "G", "start": 4620 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.4127G>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Arg1376Gln", "hgvsWellDefined": "ENSP00000389744.1:p.Arg1376Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "A", "end": 1389, "referenceAllele": "G", "start": 1388 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000546744.5:n.1389G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS365841" }, { "@id": "http://reg.genome.network/allele/PA161753", "coordinates": [ { "allele": "A", "end": 4513, "referenceAllele": "G", "start": 4512 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.4325G>A", "LRG_515t1:c.4325G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Arg1442Gln", "hgvsWellDefined": "NP_000255.2:p.Arg1442Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA161752", "coordinates": [ { "allele": "A", "end": 4621, "referenceAllele": "G", "start": 4620 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.4127G>A", "LRG_515t2:c.4127G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Arg1376Gln", "hgvsWellDefined": "NP_001077071.1:p.Arg1376Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825499205", "coordinates": [ { "allele": "A", "end": 4467, "referenceAllele": "G", "start": 4466 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.4322G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Arg1441Gln", "hgvsWellDefined": "NP_001077072.1:p.Arg1441Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825505717", "coordinates": [ { "allele": "A", "end": 4231, "referenceAllele": "G", "start": 4230 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.3872G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Arg1291Gln", "hgvsWellDefined": "NP_001077073.1:p.Arg1291Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825508715", "coordinates": [ { "allele": "A", "end": 4214, "referenceAllele": "G", "start": 4213 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.3872G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Arg1291Gln", "hgvsWellDefined": "NP_001077074.1:p.Arg1291Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825511710", "coordinates": [ { "allele": "A", "end": 4313, "referenceAllele": "G", "start": 4312 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.3872G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Arg1291Gln", "hgvsWellDefined": "NP_001077075.1:p.Arg1291Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825514455", "coordinates": [ { "allele": "A", "end": 4387, "referenceAllele": "G", "start": 4386 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.3872G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Arg1291Gln", "hgvsWellDefined": "NP_001077076.1:p.Arg1291Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "A", "end": 4071, "referenceAllele": "G", "start": 4070 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.3872G>A" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Arg1291Gln", "hgvsWellDefined": "XP_005252159.1:p.Arg1291Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "A", "end": 4369, "referenceAllele": "G", "start": 4368 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.4169G>A" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Arg1390Gln", "hgvsWellDefined": "XP_011517170.1:p.Arg1390Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "A", "end": 4020, "referenceAllele": "G", "start": 4019 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.3872G>A" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Arg1291Gln", "hgvsWellDefined": "XP_011517171.1:p.Arg1291Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "A", "end": 4008, "referenceAllele": "G", "start": 4007 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.3872G>A" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Arg1291Gln", "hgvsWellDefined": "XP_011517172.1:p.Arg1291Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "A", "end": 3995, "referenceAllele": "G", "start": 3994 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.3872G>A" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Arg1291Gln", "hgvsWellDefined": "XP_011517173.1:p.Arg1291Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "A", "end": 3978, "referenceAllele": "G", "start": 3977 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.3872G>A" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Arg1291Gln", "hgvsWellDefined": "XP_011517174.1:p.Arg1291Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "A", "end": 3772, "referenceAllele": "G", "start": 3771 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.3485G>A" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Arg1162Gln", "hgvsWellDefined": "XP_011517175.1:p.Arg1162Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "@id": "http://reg.genome.network/allele/PA161753", "coordinates": [ { "allele": "A", "end": 4513, "referenceAllele": "G", "start": 4512 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.4325G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Arg1442Gln", "hgvsWellDefined": "NP_000255.2:p.Arg1442Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA161752", "coordinates": [ { "allele": "A", "end": 4713, "referenceAllele": "G", "start": 4712 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.4127G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Arg1376Gln", "hgvsWellDefined": "NP_001077071.1:p.Arg1376Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825499205", "coordinates": [ { "allele": "A", "end": 4467, "referenceAllele": "G", "start": 4466 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.4322G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Arg1441Gln", "hgvsWellDefined": "NP_001077072.1:p.Arg1441Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825505717", "coordinates": [ { "allele": "A", "end": 4231, "referenceAllele": "G", "start": 4230 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.3872G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Arg1291Gln", "hgvsWellDefined": "NP_001077073.1:p.Arg1291Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825508715", "coordinates": [ { "allele": "A", "end": 4214, "referenceAllele": "G", "start": 4213 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.3872G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Arg1291Gln", "hgvsWellDefined": "NP_001077074.1:p.Arg1291Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825511710", "coordinates": [ { "allele": "A", "end": 4313, "referenceAllele": "G", "start": 4312 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.3872G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Arg1291Gln", "hgvsWellDefined": "NP_001077075.1:p.Arg1291Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825514455", "coordinates": [ { "allele": "A", "end": 4387, "referenceAllele": "G", "start": 4386 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.3872G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Arg1291Gln", "hgvsWellDefined": "NP_001077076.1:p.Arg1291Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828036017", "coordinates": [ { "allele": "A", "end": 4357, "referenceAllele": "G", "start": 4356 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.4169G>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Arg1390Gln", "hgvsWellDefined": "NP_001341847.1:p.Arg1390Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "A", "end": 4347, "referenceAllele": "G", "start": 4346 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.4347G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA161753", "coordinates": [ { "allele": "A", "end": 5230, "referenceAllele": "G", "start": 5229 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.4325G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Arg1442Gln", "hgvsWellDefined": "NP_000255.2:p.Arg1442Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.4325G>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.4325G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Arg1442Gln" }, "RefSeq": { "hgvs": "NP_000255.2:p.Arg1442Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA2825511710", "coordinates": [ { "allele": "A", "end": 4323, "referenceAllele": "G", "start": 4322 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.3872G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Arg1291Gln", "hgvsWellDefined": "NP_001077075.1:p.Arg1291Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828036017", "coordinates": [ { "allele": "A", "end": 5074, "referenceAllele": "G", "start": 5073 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.4169G>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Arg1390Gln", "hgvsWellDefined": "NP_001341847.1:p.Arg1390Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "A", "end": 5064, "referenceAllele": "G", "start": 5063 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.5064G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA161752", "coordinates": [ { "allele": "A", "end": 4627, "referenceAllele": "G", "start": 4626 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.4127G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Arg1376Gln", "hgvsWellDefined": "NP_001077071.1:p.Arg1376Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825499205", "coordinates": [ { "allele": "A", "end": 4473, "referenceAllele": "G", "start": 4472 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.4322G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Arg1441Gln", "hgvsWellDefined": "NP_001077072.1:p.Arg1441Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.4322G>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.4322G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Arg1441Gln" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Arg1441Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA2825505717", "coordinates": [ { "allele": "A", "end": 4231, "referenceAllele": "G", "start": 4230 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.3872G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Arg1291Gln", "hgvsWellDefined": "NP_001077073.1:p.Arg1291Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825508715", "coordinates": [ { "allele": "A", "end": 4214, "referenceAllele": "G", "start": 4213 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.3872G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Arg1291Gln", "hgvsWellDefined": "NP_001077074.1:p.Arg1291Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825514455", "coordinates": [ { "allele": "A", "end": 4387, "referenceAllele": "G", "start": 4386 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.3872G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Arg1291Gln", "hgvsWellDefined": "NP_001077076.1:p.Arg1291Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }