{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA374110867", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.3814C>T (p.Pro1272Ser)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=638472[alleleid]", "alleleId": 638472, "preferredName": "NM_000264.5(PTCH1):c.3814C>T (p.Pro1272Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/639116", "RCV": [ "RCV000791841", "RCV002352307" ], "variationId": 639116 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98209724G>A?assembly=hg19", "id": "chr9:g.98209724G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95447442G>A?assembly=hg38", "id": "chr9:g.95447442G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1298467711", "rs": 1298467711 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98209724-G-A?dataset=gnomad_r2_1", "id": "9-98209724-G-A", "variant": "9:98209724 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95447442-G-A?dataset=gnomad_r4", "id": "9-95447442-G-A", "variant": "9:95447442 G / A" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 95447442, "referenceAllele": "G", "start": 95447441 } ], "hgvs": [ "NC_000009.12:g.95447442G>A", "CM000671.2:g.95447442G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 98209724, "referenceAllele": "G", "start": 98209723 } ], "hgvs": [ "NC_000009.11:g.98209724G>A", "CM000671.1:g.98209724G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 97249545, "referenceAllele": "G", "start": 97249544 } ], "hgvs": [ "NC_000009.10:g.97249545G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 74524, "referenceAllele": "C", "start": 74523 } ], "hgvs": [ "NG_007664.1:g.74524C>T", "LRG_515:g.74524C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4116, "referenceAllele": "C", "start": 4115 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.3616C>T" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Pro1206Ser", "hgvsWellDefined": "ENSP00000518556.1:p.Pro1206Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "T", "end": 3962, "referenceAllele": "C", "start": 3961 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.3811C>T" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Pro1271Ser", "hgvsWellDefined": "ENSP00000389744.2:p.Pro1271Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.3811C>T" }, "RefSeq": { "hgvs": "NM_001083603.3:c.3811C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Pro1271Ser" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Pro1271Ser" } } } }, { "coordinates": [ { "allele": "T", "end": 2011, "referenceAllele": "C", "start": 2010 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000687744.1:n.2011C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831242" }, { "coordinates": [ { "allele": "T", "end": 3637, "referenceAllele": "C", "start": 3636 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*2122C>T" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*2122C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "T", "end": 3502, "referenceAllele": "C", "start": 3501 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.3361C>T" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Pro1121Ser", "hgvsWellDefined": "ENSP00000510238.1:p.Pro1121Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "T", "end": 1161, "referenceAllele": "C", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000693534.1:n.1161C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS834291" }, { "coordinates": [ { "allele": "T", "end": 4719, "referenceAllele": "C", "start": 4718 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.3814C>T" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Pro1272Ser", "hgvsWellDefined": "ENSP00000332353.6:p.Pro1272Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.3814C>T" }, "RefSeq": { "hgvs": "NM_000264.5:c.3814C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Pro1272Ser" }, "RefSeq": { "hgvs": "NP_000255.2:p.Pro1272Ser" } } } }, { "coordinates": [ { "allele": "T", "end": 4114, "referenceAllele": "C", "start": 4113 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.3814C>T" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Pro1272Ser", "hgvsWellDefined": "ENSP00000332353.6:p.Pro1272Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "T", "end": 3956, "referenceAllele": "C", "start": 3955 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.3811C>T" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Pro1271Ser", "hgvsWellDefined": "ENSP00000364423.2:p.Pro1271Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "T", "end": 7120, "referenceAllele": "C", "start": 7119 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.7120C>T" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.7120C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "T", "end": 3876, "referenceAllele": "C", "start": 3875 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.3361C>T" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Pro1121Ser", "hgvsWellDefined": "ENSP00000396135.1:p.Pro1121Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "T", "end": 3720, "referenceAllele": "C", "start": 3719 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.3361C>T" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Pro1121Ser", "hgvsWellDefined": "ENSP00000399981.1:p.Pro1121Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "T", "end": 3802, "referenceAllele": "C", "start": 3801 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.3361C>T" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Pro1121Ser", "hgvsWellDefined": "ENSP00000414823.2:p.Pro1121Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "T", "end": 4202, "referenceAllele": "C", "start": 4201 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.3616C>T" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Pro1206Ser", "hgvsWellDefined": "ENSP00000410287.2:p.Pro1206Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "T", "end": 4110, "referenceAllele": "C", "start": 4109 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.3616C>T" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Pro1206Ser", "hgvsWellDefined": "ENSP00000389744.1:p.Pro1206Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "T", "end": 878, "referenceAllele": "C", "start": 877 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000546744.5:n.878C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS365841" }, { "@id": "http://reg.genome.network/allele/PA915958383", "coordinates": [ { "allele": "T", "end": 4002, "referenceAllele": "C", "start": 4001 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.3814C>T", "LRG_515t1:c.3814C>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Pro1272Ser", "hgvsWellDefined": "NP_000255.2:p.Pro1272Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825490920", "coordinates": [ { "allele": "T", "end": 4110, "referenceAllele": "C", "start": 4109 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.3616C>T", "LRG_515t2:c.3616C>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Pro1206Ser", "hgvsWellDefined": "NP_001077071.1:p.Pro1206Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825497938", "coordinates": [ { "allele": "T", "end": 3956, "referenceAllele": "C", "start": 3955 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.3811C>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Pro1271Ser", "hgvsWellDefined": "NP_001077072.1:p.Pro1271Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825504720", "coordinates": [ { "allele": "T", "end": 3720, "referenceAllele": "C", "start": 3719 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.3361C>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Pro1121Ser", "hgvsWellDefined": "NP_001077073.1:p.Pro1121Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825508206", "coordinates": [ { "allele": "T", "end": 3703, "referenceAllele": "C", "start": 3702 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.3361C>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Pro1121Ser", "hgvsWellDefined": "NP_001077074.1:p.Pro1121Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825511204", "coordinates": [ { "allele": "T", "end": 3802, "referenceAllele": "C", "start": 3801 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.3361C>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Pro1121Ser", "hgvsWellDefined": "NP_001077075.1:p.Pro1121Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825513946", "coordinates": [ { "allele": "T", "end": 3876, "referenceAllele": "C", "start": 3875 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.3361C>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Pro1121Ser", "hgvsWellDefined": "NP_001077076.1:p.Pro1121Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "T", "end": 3560, "referenceAllele": "C", "start": 3559 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.3361C>T" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Pro1121Ser", "hgvsWellDefined": "XP_005252159.1:p.Pro1121Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "T", "end": 3858, "referenceAllele": "C", "start": 3857 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.3658C>T" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Pro1220Ser", "hgvsWellDefined": "XP_011517170.1:p.Pro1220Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "T", "end": 3509, "referenceAllele": "C", "start": 3508 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.3361C>T" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Pro1121Ser", "hgvsWellDefined": "XP_011517171.1:p.Pro1121Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "T", "end": 3497, "referenceAllele": "C", "start": 3496 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.3361C>T" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Pro1121Ser", "hgvsWellDefined": "XP_011517172.1:p.Pro1121Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "T", "end": 3484, "referenceAllele": "C", "start": 3483 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.3361C>T" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Pro1121Ser", "hgvsWellDefined": "XP_011517173.1:p.Pro1121Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "T", "end": 3467, "referenceAllele": "C", "start": 3466 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.3361C>T" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Pro1121Ser", "hgvsWellDefined": "XP_011517174.1:p.Pro1121Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "T", "end": 3261, "referenceAllele": "C", "start": 3260 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.2974C>T" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Pro992Ser", "hgvsWellDefined": "XP_011517175.1:p.Pro992Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "@id": "http://reg.genome.network/allele/PA915958383", "coordinates": [ { "allele": "T", "end": 4002, "referenceAllele": "C", "start": 4001 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.3814C>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Pro1272Ser", "hgvsWellDefined": "NP_000255.2:p.Pro1272Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825490920", "coordinates": [ { "allele": "T", "end": 4202, "referenceAllele": "C", "start": 4201 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.3616C>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Pro1206Ser", "hgvsWellDefined": "NP_001077071.1:p.Pro1206Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825497938", "coordinates": [ { "allele": "T", "end": 3956, "referenceAllele": "C", "start": 3955 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.3811C>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Pro1271Ser", "hgvsWellDefined": "NP_001077072.1:p.Pro1271Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825504720", "coordinates": [ { "allele": "T", "end": 3720, "referenceAllele": "C", "start": 3719 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.3361C>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Pro1121Ser", "hgvsWellDefined": "NP_001077073.1:p.Pro1121Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825508206", "coordinates": [ { "allele": "T", "end": 3703, "referenceAllele": "C", "start": 3702 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.3361C>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Pro1121Ser", "hgvsWellDefined": "NP_001077074.1:p.Pro1121Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825511204", "coordinates": [ { "allele": "T", "end": 3802, "referenceAllele": "C", "start": 3801 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.3361C>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Pro1121Ser", "hgvsWellDefined": "NP_001077075.1:p.Pro1121Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825513946", "coordinates": [ { "allele": "T", "end": 3876, "referenceAllele": "C", "start": 3875 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.3361C>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Pro1121Ser", "hgvsWellDefined": "NP_001077076.1:p.Pro1121Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828035124", "coordinates": [ { "allele": "T", "end": 3846, "referenceAllele": "C", "start": 3845 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.3658C>T" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Pro1220Ser", "hgvsWellDefined": "NP_001341847.1:p.Pro1220Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "T", "end": 3836, "referenceAllele": "C", "start": 3835 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.3836C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA915958383", "coordinates": [ { "allele": "T", "end": 4719, "referenceAllele": "C", "start": 4718 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.3814C>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Pro1272Ser", "hgvsWellDefined": "NP_000255.2:p.Pro1272Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.3814C>T" }, "RefSeq": { "hgvs": "NM_000264.5:c.3814C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Pro1272Ser" }, "RefSeq": { "hgvs": "NP_000255.2:p.Pro1272Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA2825511204", "coordinates": [ { "allele": "T", "end": 3812, "referenceAllele": "C", "start": 3811 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.3361C>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Pro1121Ser", "hgvsWellDefined": "NP_001077075.1:p.Pro1121Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828035124", "coordinates": [ { "allele": "T", "end": 4563, "referenceAllele": "C", "start": 4562 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.3658C>T" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Pro1220Ser", "hgvsWellDefined": "NP_001341847.1:p.Pro1220Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "T", "end": 4553, "referenceAllele": "C", "start": 4552 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.4553C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825490920", "coordinates": [ { "allele": "T", "end": 4116, "referenceAllele": "C", "start": 4115 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.3616C>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Pro1206Ser", "hgvsWellDefined": "NP_001077071.1:p.Pro1206Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825497938", "coordinates": [ { "allele": "T", "end": 3962, "referenceAllele": "C", "start": 3961 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.3811C>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Pro1271Ser", "hgvsWellDefined": "NP_001077072.1:p.Pro1271Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.3811C>T" }, "RefSeq": { "hgvs": "NM_001083603.3:c.3811C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Pro1271Ser" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Pro1271Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA2825504720", "coordinates": [ { "allele": "T", "end": 3720, "referenceAllele": "C", "start": 3719 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.3361C>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Pro1121Ser", "hgvsWellDefined": "NP_001077073.1:p.Pro1121Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825508206", "coordinates": [ { "allele": "T", "end": 3703, "referenceAllele": "C", "start": 3702 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.3361C>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Pro1121Ser", "hgvsWellDefined": "NP_001077074.1:p.Pro1121Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825513946", "coordinates": [ { "allele": "T", "end": 3876, "referenceAllele": "C", "start": 3875 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.3361C>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Pro1121Ser", "hgvsWellDefined": "NP_001077076.1:p.Pro1121Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }