{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA334117", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186100[alleleid]", "alleleId": 186100, "preferredName": "NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188130", "RCV": [ "RCV000167997", "RCV001021641", "RCV001589046", "RCV002492679", "RCV004552935" ], "variationId": 188130 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-98209537-C-T", "id": "9-98209537-C-T", "variant": "9:98209537 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98209537C>T?assembly=hg19", "id": "chr9:g.98209537C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95447255C>T?assembly=hg38", "id": "chr9:g.95447255C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/200620662", "rs": 200620662 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98209537-C-T?dataset=gnomad_r2_1", "id": "9-98209537-C-T", "variant": "9:98209537 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95447255-C-T?dataset=gnomad_r3", "id": "9-95447255-C-T", "variant": "9:95447255 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95447255-C-T?dataset=gnomad_r4", "id": "9-95447255-C-T", "variant": "9:95447255 C / T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 95447255, "referenceAllele": "C", "start": 95447254 } ], "hgvs": [ "NC_000009.12:g.95447255C>T", "CM000671.2:g.95447255C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 98209537, "referenceAllele": "C", "start": 98209536 } ], "hgvs": [ "NC_000009.11:g.98209537C>T", "CM000671.1:g.98209537C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 97249358, "referenceAllele": "C", "start": 97249357 } ], "hgvs": [ "NC_000009.10:g.97249358C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 74711, "referenceAllele": "G", "start": 74710 } ], "hgvs": [ "NG_007664.1:g.74711G>A", "LRG_515:g.74711G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4303, "referenceAllele": "G", "start": 4302 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.3803G>A" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Ser1268Asn", "hgvsWellDefined": "ENSP00000518556.1:p.Ser1268Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "A", "end": 4149, "referenceAllele": "G", "start": 4148 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.3998G>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Ser1333Asn", "hgvsWellDefined": "ENSP00000389744.2:p.Ser1333Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.3998G>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.3998G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Ser1333Asn" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Ser1333Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 2198, "referenceAllele": "G", "start": 2197 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000687744.1:n.2198G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831242" }, { "coordinates": [ { "allele": "A", "end": 3824, "referenceAllele": "G", "start": 3823 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*2309G>A" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*2309G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "A", "end": 3689, "referenceAllele": "G", "start": 3688 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.3548G>A" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Ser1183Asn", "hgvsWellDefined": "ENSP00000510238.1:p.Ser1183Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "A", "end": 1348, "referenceAllele": "G", "start": 1347 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000693534.1:n.1348G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS834291" }, { "coordinates": [ { "allele": "A", "end": 4906, "referenceAllele": "G", "start": 4905 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.4001G>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Ser1334Asn", "hgvsWellDefined": "ENSP00000332353.6:p.Ser1334Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.4001G>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.4001G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Ser1334Asn" }, "RefSeq": { "hgvs": "NP_000255.2:p.Ser1334Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 4301, "referenceAllele": "G", "start": 4300 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.4001G>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Ser1334Asn", "hgvsWellDefined": "ENSP00000332353.6:p.Ser1334Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "A", "end": 4143, "referenceAllele": "G", "start": 4142 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.3998G>A" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Ser1333Asn", "hgvsWellDefined": "ENSP00000364423.2:p.Ser1333Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "A", "end": 7307, "referenceAllele": "G", "start": 7306 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.7307G>A" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.7307G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "A", "end": 4063, "referenceAllele": "G", "start": 4062 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.3548G>A" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Ser1183Asn", "hgvsWellDefined": "ENSP00000396135.1:p.Ser1183Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "A", "end": 3907, "referenceAllele": "G", "start": 3906 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.3548G>A" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Ser1183Asn", "hgvsWellDefined": "ENSP00000399981.1:p.Ser1183Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "A", "end": 3989, "referenceAllele": "G", "start": 3988 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.3548G>A" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Ser1183Asn", "hgvsWellDefined": "ENSP00000414823.2:p.Ser1183Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "A", "end": 4389, "referenceAllele": "G", "start": 4388 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.3803G>A" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Ser1268Asn", "hgvsWellDefined": "ENSP00000410287.2:p.Ser1268Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "A", "end": 4297, "referenceAllele": "G", "start": 4296 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.3803G>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Ser1268Asn", "hgvsWellDefined": "ENSP00000389744.1:p.Ser1268Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "A", "end": 1065, "referenceAllele": "G", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000546744.5:n.1065G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS365841" }, { "@id": "http://reg.genome.network/allele/PA334121", "coordinates": [ { "allele": "A", "end": 4189, "referenceAllele": "G", "start": 4188 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.4001G>A", "LRG_515t1:c.4001G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ser1334Asn", "hgvsWellDefined": "NP_000255.2:p.Ser1334Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA334120", "coordinates": [ { "allele": "A", "end": 4297, "referenceAllele": "G", "start": 4296 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.3803G>A", "LRG_515t2:c.3803G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ser1268Asn", "hgvsWellDefined": "NP_001077071.1:p.Ser1268Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825498348", "coordinates": [ { "allele": "A", "end": 4143, "referenceAllele": "G", "start": 4142 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.3998G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ser1333Asn", "hgvsWellDefined": "NP_001077072.1:p.Ser1333Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825505133", "coordinates": [ { "allele": "A", "end": 3907, "referenceAllele": "G", "start": 3906 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.3548G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ser1183Asn", "hgvsWellDefined": "NP_001077073.1:p.Ser1183Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825508389", "coordinates": [ { "allele": "A", "end": 3890, "referenceAllele": "G", "start": 3889 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.3548G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ser1183Asn", "hgvsWellDefined": "NP_001077074.1:p.Ser1183Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825511384", "coordinates": [ { "allele": "A", "end": 3989, "referenceAllele": "G", "start": 3988 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.3548G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ser1183Asn", "hgvsWellDefined": "NP_001077075.1:p.Ser1183Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825514130", "coordinates": [ { "allele": "A", "end": 4063, "referenceAllele": "G", "start": 4062 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.3548G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ser1183Asn", "hgvsWellDefined": "NP_001077076.1:p.Ser1183Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "A", "end": 3747, "referenceAllele": "G", "start": 3746 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.3548G>A" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Ser1183Asn", "hgvsWellDefined": "XP_005252159.1:p.Ser1183Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "A", "end": 4045, "referenceAllele": "G", "start": 4044 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.3845G>A" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Ser1282Asn", "hgvsWellDefined": "XP_011517170.1:p.Ser1282Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "A", "end": 3696, "referenceAllele": "G", "start": 3695 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.3548G>A" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Ser1183Asn", "hgvsWellDefined": "XP_011517171.1:p.Ser1183Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "A", "end": 3684, "referenceAllele": "G", "start": 3683 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.3548G>A" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Ser1183Asn", "hgvsWellDefined": "XP_011517172.1:p.Ser1183Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "A", "end": 3671, "referenceAllele": "G", "start": 3670 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.3548G>A" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Ser1183Asn", "hgvsWellDefined": "XP_011517173.1:p.Ser1183Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "A", "end": 3654, "referenceAllele": "G", "start": 3653 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.3548G>A" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Ser1183Asn", "hgvsWellDefined": "XP_011517174.1:p.Ser1183Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "A", "end": 3448, "referenceAllele": "G", "start": 3447 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.3161G>A" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Ser1054Asn", "hgvsWellDefined": "XP_011517175.1:p.Ser1054Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "@id": "http://reg.genome.network/allele/PA334121", "coordinates": [ { "allele": "A", "end": 4189, "referenceAllele": "G", "start": 4188 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.4001G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ser1334Asn", "hgvsWellDefined": "NP_000255.2:p.Ser1334Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA334120", "coordinates": [ { "allele": "A", "end": 4389, "referenceAllele": "G", "start": 4388 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.3803G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ser1268Asn", "hgvsWellDefined": "NP_001077071.1:p.Ser1268Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825498348", "coordinates": [ { "allele": "A", "end": 4143, "referenceAllele": "G", "start": 4142 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.3998G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ser1333Asn", "hgvsWellDefined": "NP_001077072.1:p.Ser1333Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825505133", "coordinates": [ { "allele": "A", "end": 3907, "referenceAllele": "G", "start": 3906 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.3548G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ser1183Asn", "hgvsWellDefined": "NP_001077073.1:p.Ser1183Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825508389", "coordinates": [ { "allele": "A", "end": 3890, "referenceAllele": "G", "start": 3889 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.3548G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ser1183Asn", "hgvsWellDefined": "NP_001077074.1:p.Ser1183Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825511384", "coordinates": [ { "allele": "A", "end": 3989, "referenceAllele": "G", "start": 3988 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.3548G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ser1183Asn", "hgvsWellDefined": "NP_001077075.1:p.Ser1183Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825514130", "coordinates": [ { "allele": "A", "end": 4063, "referenceAllele": "G", "start": 4062 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.3548G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ser1183Asn", "hgvsWellDefined": "NP_001077076.1:p.Ser1183Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828035421", "coordinates": [ { "allele": "A", "end": 4033, "referenceAllele": "G", "start": 4032 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.3845G>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Ser1282Asn", "hgvsWellDefined": "NP_001341847.1:p.Ser1282Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "A", "end": 4023, "referenceAllele": "G", "start": 4022 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.4023G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA334121", "coordinates": [ { "allele": "A", "end": 4906, "referenceAllele": "G", "start": 4905 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.4001G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ser1334Asn", "hgvsWellDefined": "NP_000255.2:p.Ser1334Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.4001G>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.4001G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Ser1334Asn" }, "RefSeq": { "hgvs": "NP_000255.2:p.Ser1334Asn" } } } }, { "@id": "http://reg.genome.network/allele/PA2825511384", "coordinates": [ { "allele": "A", "end": 3999, "referenceAllele": "G", "start": 3998 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.3548G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ser1183Asn", "hgvsWellDefined": "NP_001077075.1:p.Ser1183Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828035421", "coordinates": [ { "allele": "A", "end": 4750, "referenceAllele": "G", "start": 4749 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.3845G>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Ser1282Asn", "hgvsWellDefined": "NP_001341847.1:p.Ser1282Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "A", "end": 4740, "referenceAllele": "G", "start": 4739 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.4740G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA334120", "coordinates": [ { "allele": "A", "end": 4303, "referenceAllele": "G", "start": 4302 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.3803G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ser1268Asn", "hgvsWellDefined": "NP_001077071.1:p.Ser1268Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825498348", "coordinates": [ { "allele": "A", "end": 4149, "referenceAllele": "G", "start": 4148 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.3998G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ser1333Asn", "hgvsWellDefined": "NP_001077072.1:p.Ser1333Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.3998G>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.3998G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Ser1333Asn" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Ser1333Asn" } } } }, { "@id": "http://reg.genome.network/allele/PA2825505133", "coordinates": [ { "allele": "A", "end": 3907, "referenceAllele": "G", "start": 3906 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.3548G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ser1183Asn", "hgvsWellDefined": "NP_001077073.1:p.Ser1183Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825508389", "coordinates": [ { "allele": "A", "end": 3890, "referenceAllele": "G", "start": 3889 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.3548G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ser1183Asn", "hgvsWellDefined": "NP_001077074.1:p.Ser1183Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825514130", "coordinates": [ { "allele": "A", "end": 4063, "referenceAllele": "G", "start": 4062 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.3548G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ser1183Asn", "hgvsWellDefined": "NP_001077076.1:p.Ser1183Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }