{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5138839", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.779A>C (p.Asp260Ala)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=925685[alleleid]", "alleleId": 925685, "preferredName": "NM_000264.5(PTCH1):c.779A>C (p.Asp260Ala)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/951737", "RCV": [ "RCV001223719", "RCV002411828" ], "variationId": 951737 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-98242838-T-G", "id": "9-98242838-T-G", "variant": "9:98242838 T / G" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98242838T>G?assembly=hg19", "id": "chr9:g.98242838T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95480556T>G?assembly=hg38", "id": "chr9:g.95480556T>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/368102115", "rs": 368102115 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98242838-T-G?dataset=gnomad_r2_1", "id": "9-98242838-T-G", "variant": "9:98242838 T / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95480556-T-G?dataset=gnomad_r4", "id": "9-95480556-T-G", "variant": "9:95480556 T / G" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 95480556, "referenceAllele": "T", "start": 95480555 } ], "hgvs": [ "NC_000009.12:g.95480556T>G", "CM000671.2:g.95480556T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 98242838, "referenceAllele": "T", "start": 98242837 } ], "hgvs": [ "NC_000009.11:g.98242838T>G", "CM000671.1:g.98242838T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 97282659, "referenceAllele": "T", "start": 97282658 } ], "hgvs": [ "NC_000009.10:g.97282659T>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "C", "end": 41410, "referenceAllele": "A", "start": 41409 } ], "hgvs": [ "NG_007664.1:g.41410A>C", "LRG_515:g.41410A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 1081, "referenceAllele": "A", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.581A>C" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Asp194Ala", "hgvsWellDefined": "ENSP00000518556.1:p.Asp194Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "C", "end": 927, "referenceAllele": "A", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.776A>C" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Asp259Ala", "hgvsWellDefined": "ENSP00000389744.2:p.Asp259Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.776A>C" }, "RefSeq": { "hgvs": "NM_001083603.3:c.776A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Asp259Ala" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Asp259Ala" } } } }, { "coordinates": [ { "allele": "C", "end": 470, "referenceAllele": "A", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:p.Asp109Ala", "hgvsWellDefined": "ENSP00000509379.1:p.Asp109Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "C", "end": 467, "referenceAllele": "A", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Asp109Ala", "hgvsWellDefined": "ENSP00000510238.1:p.Asp109Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "C", "end": 1684, "referenceAllele": "A", "start": 1683 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.779A>C" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Asp260Ala", "hgvsWellDefined": "ENSP00000332353.6:p.Asp260Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.779A>C" }, "RefSeq": { "hgvs": "NM_000264.5:c.779A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Asp260Ala" }, "RefSeq": { "hgvs": "NP_000255.2:p.Asp260Ala" } } } }, { "coordinates": [ { "allele": "C", "end": 1079, "referenceAllele": "A", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.779A>C" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Asp260Ala", "hgvsWellDefined": "ENSP00000332353.6:p.Asp260Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "C", "end": 921, "referenceAllele": "A", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.776A>C" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Asp259Ala", "hgvsWellDefined": "ENSP00000364423.2:p.Asp259Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "C", "end": 416, "referenceAllele": "A", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.416A>C" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:p.Asp139Ala", "hgvsWellDefined": "ENSP00000364439.2:p.Asp139Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "C", "end": 841, "referenceAllele": "A", "start": 840 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Asp109Ala", "hgvsWellDefined": "ENSP00000396135.1:p.Asp109Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "C", "end": 685, "referenceAllele": "A", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Asp109Ala", "hgvsWellDefined": "ENSP00000399981.1:p.Asp109Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "C", "end": 767, "referenceAllele": "A", "start": 766 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Asp109Ala", "hgvsWellDefined": "ENSP00000414823.2:p.Asp109Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "C", "end": 1167, "referenceAllele": "A", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.581A>C" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Asp194Ala", "hgvsWellDefined": "ENSP00000410287.2:p.Asp194Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "C", "end": 1075, "referenceAllele": "A", "start": 1074 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.581A>C" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Asp194Ala", "hgvsWellDefined": "ENSP00000389744.1:p.Asp194Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "C", "end": 668, "referenceAllele": "A", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000546820.5:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000448843.1:p.Asp109Ala", "hgvsWellDefined": "ENSP00000448843.1:p.Asp109Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS365896" }, { "coordinates": [ { "allele": "C", "end": 685, "referenceAllele": "A", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000547672.5:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000447878.1:p.Asp109Ala", "hgvsWellDefined": "ENSP00000447878.1:p.Asp109Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS366415" }, { "coordinates": [ { "allele": "C", "end": 432, "referenceAllele": "A", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000548379.5:n.432A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS366825" }, { "coordinates": [ { "allele": "C", "end": 292, "referenceAllele": "A", "start": 291 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000548420.1:c.-62A>C" ], "proteinEffect": { "hgvs": "ENSP00000449078.1:n.-62A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS366846" }, { "coordinates": [ { "allele": "C", "end": 226, "referenceAllele": "A", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000548945.6:n.226A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS367165" }, { "coordinates": [ { "allele": "C", "end": 613, "referenceAllele": "A", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000550914.6:c.*121A>C" ], "proteinEffect": { "hgvs": "ENSP00000450047.1:n.*121A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS368349" }, { "coordinates": [ { "allele": "C", "end": 613, "referenceAllele": "A", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000551845.5:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000447008.1:p.Asp109Ala", "hgvsWellDefined": "ENSP00000447008.1:p.Asp109Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS368908" }, { "coordinates": [ { "allele": "C", "end": 841, "referenceAllele": "A", "start": 840 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000553011.5:c.326A>C" ], "proteinEffect": { "hgvs": "ENSP00000447797.1:p.Asp109Ala", "hgvsWellDefined": "ENSP00000447797.1:p.Asp109Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS369582" }, { "coordinates": [ { "allele": "C", "end": 525, "referenceAllele": "A", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000553256.5:n.525A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS369717" }, { "@id": "http://reg.genome.network/allele/PA2825119295", "coordinates": [ { "allele": "C", "end": 967, "referenceAllele": "A", "start": 966 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.779A>C", "LRG_515t1:c.779A>C" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Asp260Ala", "hgvsWellDefined": "NP_000255.2:p.Asp260Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825486573", "coordinates": [ { "allele": "C", "end": 1075, "referenceAllele": "A", "start": 1074 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.581A>C", "LRG_515t2:c.581A>C" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Asp194Ala", "hgvsWellDefined": "NP_001077071.1:p.Asp194Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825492519", "coordinates": [ { "allele": "C", "end": 921, "referenceAllele": "A", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.776A>C" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Asp259Ala", "hgvsWellDefined": "NP_001077072.1:p.Asp259Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825499837", "coordinates": [ { "allele": "C", "end": 685, "referenceAllele": "A", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.326A>C" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Asp109Ala", "hgvsWellDefined": "NP_001077073.1:p.Asp109Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825505967", "coordinates": [ { "allele": "C", "end": 668, "referenceAllele": "A", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.326A>C" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Asp109Ala", "hgvsWellDefined": "NP_001077074.1:p.Asp109Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825508963", "coordinates": [ { "allele": "C", "end": 767, "referenceAllele": "A", "start": 766 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.326A>C" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Asp109Ala", "hgvsWellDefined": "NP_001077075.1:p.Asp109Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825511830", "coordinates": [ { "allele": "C", "end": 841, "referenceAllele": "A", "start": 840 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.326A>C" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Asp109Ala", "hgvsWellDefined": "NP_001077076.1:p.Asp109Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "C", "end": 525, "referenceAllele": "A", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.326A>C" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Asp109Ala", "hgvsWellDefined": "XP_005252159.1:p.Asp109Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "C", "end": 979, "referenceAllele": "A", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.779A>C" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Asp260Ala", "hgvsWellDefined": "XP_011517170.1:p.Asp260Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "C", "end": 474, "referenceAllele": "A", "start": 473 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.326A>C" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Asp109Ala", "hgvsWellDefined": "XP_011517171.1:p.Asp109Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "C", "end": 462, "referenceAllele": "A", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.326A>C" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Asp109Ala", "hgvsWellDefined": "XP_011517172.1:p.Asp109Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "C", "end": 449, "referenceAllele": "A", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.326A>C" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Asp109Ala", "hgvsWellDefined": "XP_011517173.1:p.Asp109Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "C", "end": 432, "referenceAllele": "A", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.326A>C" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Asp109Ala", "hgvsWellDefined": "XP_011517174.1:p.Asp109Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "C", "end": 226, "referenceAllele": "A", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.-62A>C" ], "proteinEffect": { "hgvs": "XP_011517175.1:n.-62A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "C", "end": 979, "referenceAllele": "A", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.779A>C" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Asp260Ala", "hgvsWellDefined": "XP_011517176.1:p.Asp260Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA2825119295", "coordinates": [ { "allele": "C", "end": 967, "referenceAllele": "A", "start": 966 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.779A>C" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Asp260Ala", "hgvsWellDefined": "NP_000255.2:p.Asp260Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825486573", "coordinates": [ { "allele": "C", "end": 1167, "referenceAllele": "A", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.581A>C" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Asp194Ala", "hgvsWellDefined": "NP_001077071.1:p.Asp194Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825492519", "coordinates": [ { "allele": "C", "end": 921, "referenceAllele": "A", "start": 920 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.776A>C" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Asp259Ala", "hgvsWellDefined": "NP_001077072.1:p.Asp259Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825499837", "coordinates": [ { "allele": "C", "end": 685, "referenceAllele": "A", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.326A>C" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Asp109Ala", "hgvsWellDefined": "NP_001077073.1:p.Asp109Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825505967", "coordinates": [ { "allele": "C", "end": 668, "referenceAllele": "A", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.326A>C" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Asp109Ala", "hgvsWellDefined": "NP_001077074.1:p.Asp109Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825508963", "coordinates": [ { "allele": "C", "end": 767, "referenceAllele": "A", "start": 766 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.326A>C" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Asp109Ala", "hgvsWellDefined": "NP_001077075.1:p.Asp109Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825511830", "coordinates": [ { "allele": "C", "end": 841, "referenceAllele": "A", "start": 840 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.326A>C" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Asp109Ala", "hgvsWellDefined": "NP_001077076.1:p.Asp109Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA1139737704", "coordinates": [ { "allele": "C", "end": 967, "referenceAllele": "A", "start": 966 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.779A>C" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Asp260Ala", "hgvsWellDefined": "NP_001341847.1:p.Asp260Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "C", "end": 967, "referenceAllele": "A", "start": 966 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.967A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA2825119295", "coordinates": [ { "allele": "C", "end": 1684, "referenceAllele": "A", "start": 1683 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.779A>C" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Asp260Ala", "hgvsWellDefined": "NP_000255.2:p.Asp260Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.779A>C" }, "RefSeq": { "hgvs": "NM_000264.5:c.779A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Asp260Ala" }, "RefSeq": { "hgvs": "NP_000255.2:p.Asp260Ala" } } } }, { "@id": "http://reg.genome.network/allele/PA2825508963", "coordinates": [ { "allele": "C", "end": 777, "referenceAllele": "A", "start": 776 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.326A>C" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Asp109Ala", "hgvsWellDefined": "NP_001077075.1:p.Asp109Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA1139737704", "coordinates": [ { "allele": "C", "end": 1684, "referenceAllele": "A", "start": 1683 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.779A>C" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Asp260Ala", "hgvsWellDefined": "NP_001341847.1:p.Asp260Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "C", "end": 1684, "referenceAllele": "A", "start": 1683 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.1684A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825486573", "coordinates": [ { "allele": "C", "end": 1081, "referenceAllele": "A", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.581A>C" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Asp194Ala", "hgvsWellDefined": "NP_001077071.1:p.Asp194Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825492519", "coordinates": [ { "allele": "C", "end": 927, "referenceAllele": "A", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.776A>C" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Asp259Ala", "hgvsWellDefined": "NP_001077072.1:p.Asp259Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.776A>C" }, "RefSeq": { "hgvs": "NM_001083603.3:c.776A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Asp259Ala" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Asp259Ala" } } } }, { "@id": "http://reg.genome.network/allele/PA2825499837", "coordinates": [ { "allele": "C", "end": 685, "referenceAllele": "A", "start": 684 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.326A>C" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Asp109Ala", "hgvsWellDefined": "NP_001077073.1:p.Asp109Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825505967", "coordinates": [ { "allele": "C", "end": 668, "referenceAllele": "A", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.326A>C" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Asp109Ala", "hgvsWellDefined": "NP_001077074.1:p.Asp109Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825511830", "coordinates": [ { "allele": "C", "end": 841, "referenceAllele": "A", "start": 840 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.326A>C" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Asp109Ala", "hgvsWellDefined": "NP_001077076.1:p.Asp109Ala" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }