{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5138190", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.3298G>A (p.Val1100Ile)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=397366[alleleid]", "alleleId": 397366, "preferredName": "NM_000264.5(PTCH1):c.3298G>A (p.Val1100Ile)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/409202", "RCV": [ "RCV000462088", "RCV001019770" ], "variationId": 409202 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-98218566-C-T", "id": "9-98218566-C-T", "variant": "9:98218566 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98218566C>T?assembly=hg19", "id": "chr9:g.98218566C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95456284C>T?assembly=hg38", "id": "chr9:g.95456284C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/577110118", "rs": 577110118 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98218566-C-T?dataset=gnomad_r2_1", "id": "9-98218566-C-T", "variant": "9:98218566 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95456284-C-T?dataset=gnomad_r3", "id": "9-95456284-C-T", "variant": "9:95456284 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95456284-C-T?dataset=gnomad_r4", "id": "9-95456284-C-T", "variant": "9:95456284 C / T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 95456284, "referenceAllele": "C", "start": 95456283 } ], "hgvs": [ "NC_000009.12:g.95456284C>T", "CM000671.2:g.95456284C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 98218566, "referenceAllele": "C", "start": 98218565 } ], "hgvs": [ "NC_000009.11:g.98218566C>T", "CM000671.1:g.98218566C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 97258387, "referenceAllele": "C", "start": 97258386 } ], "hgvs": [ "NC_000009.10:g.97258387C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 65682, "referenceAllele": "G", "start": 65681 } ], "hgvs": [ "NG_007664.1:g.65682G>A", "LRG_515:g.65682G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3600, "referenceAllele": "G", "start": 3599 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.3100G>A" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Val1034Ile", "hgvsWellDefined": "ENSP00000518556.1:p.Val1034Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "A", "end": 3446, "referenceAllele": "G", "start": 3445 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.3295G>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Val1099Ile", "hgvsWellDefined": "ENSP00000389744.2:p.Val1099Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.3295G>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.3295G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Val1099Ile" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Val1099Ile" } } } }, { "coordinates": [ { "allele": "A", "end": 3121, "referenceAllele": "G", "start": 3120 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*1606G>A" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*1606G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "A", "end": 2986, "referenceAllele": "G", "start": 2985 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.2845G>A" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Val949Ile", "hgvsWellDefined": "ENSP00000510238.1:p.Val949Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "A", "end": 629, "referenceAllele": "G", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000693534.1:n.629G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS834291" }, { "coordinates": [ { "allele": "A", "end": 4203, "referenceAllele": "G", "start": 4202 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.3298G>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Val1100Ile", "hgvsWellDefined": "ENSP00000332353.6:p.Val1100Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.3298G>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.3298G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Val1100Ile" }, "RefSeq": { "hgvs": "NP_000255.2:p.Val1100Ile" } } } }, { "coordinates": [ { "allele": "A", "end": 3598, "referenceAllele": "G", "start": 3597 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.3298G>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Val1100Ile", "hgvsWellDefined": "ENSP00000332353.6:p.Val1100Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "A", "end": 3440, "referenceAllele": "G", "start": 3439 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.3295G>A" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Val1099Ile", "hgvsWellDefined": "ENSP00000364423.2:p.Val1099Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "A", "end": 3067, "referenceAllele": "G", "start": 3066 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.3067G>A" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.3067G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "A", "end": 3360, "referenceAllele": "G", "start": 3359 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.2845G>A" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Val949Ile", "hgvsWellDefined": "ENSP00000396135.1:p.Val949Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "A", "end": 3204, "referenceAllele": "G", "start": 3203 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.2845G>A" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Val949Ile", "hgvsWellDefined": "ENSP00000399981.1:p.Val949Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "A", "end": 3286, "referenceAllele": "G", "start": 3285 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.2845G>A" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Val949Ile", "hgvsWellDefined": "ENSP00000414823.2:p.Val949Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "A", "end": 3686, "referenceAllele": "G", "start": 3685 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.3100G>A" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Val1034Ile", "hgvsWellDefined": "ENSP00000410287.2:p.Val1034Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "A", "end": 3594, "referenceAllele": "G", "start": 3593 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.3100G>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Val1034Ile", "hgvsWellDefined": "ENSP00000389744.1:p.Val1034Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "@id": "http://reg.genome.network/allele/PA645506415", "coordinates": [ { "allele": "A", "end": 3486, "referenceAllele": "G", "start": 3485 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.3298G>A", "LRG_515t1:c.3298G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Val1100Ile", "hgvsWellDefined": "NP_000255.2:p.Val1100Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825490374", "coordinates": [ { "allele": "A", "end": 3594, "referenceAllele": "G", "start": 3593 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.3100G>A", "LRG_515t2:c.3100G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Val1034Ile", "hgvsWellDefined": "NP_001077071.1:p.Val1034Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825497028", "coordinates": [ { "allele": "A", "end": 3440, "referenceAllele": "G", "start": 3439 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.3295G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Val1099Ile", "hgvsWellDefined": "NP_001077072.1:p.Val1099Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825503870", "coordinates": [ { "allele": "A", "end": 3204, "referenceAllele": "G", "start": 3203 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.2845G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Val949Ile", "hgvsWellDefined": "NP_001077073.1:p.Val949Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825507801", "coordinates": [ { "allele": "A", "end": 3187, "referenceAllele": "G", "start": 3186 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.2845G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Val949Ile", "hgvsWellDefined": "NP_001077074.1:p.Val949Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825510798", "coordinates": [ { "allele": "A", "end": 3286, "referenceAllele": "G", "start": 3285 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.2845G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Val949Ile", "hgvsWellDefined": "NP_001077075.1:p.Val949Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA915970216", "coordinates": [ { "allele": "A", "end": 3360, "referenceAllele": "G", "start": 3359 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.2845G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Val949Ile", "hgvsWellDefined": "NP_001077076.1:p.Val949Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "A", "end": 3044, "referenceAllele": "G", "start": 3043 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.2845G>A" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Val949Ile", "hgvsWellDefined": "XP_005252159.1:p.Val949Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "A", "end": 3342, "referenceAllele": "G", "start": 3341 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.3142G>A" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Val1048Ile", "hgvsWellDefined": "XP_011517170.1:p.Val1048Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "A", "end": 2993, "referenceAllele": "G", "start": 2992 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.2845G>A" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Val949Ile", "hgvsWellDefined": "XP_011517171.1:p.Val949Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "A", "end": 2981, "referenceAllele": "G", "start": 2980 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.2845G>A" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Val949Ile", "hgvsWellDefined": "XP_011517172.1:p.Val949Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "A", "end": 2968, "referenceAllele": "G", "start": 2967 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.2845G>A" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Val949Ile", "hgvsWellDefined": "XP_011517173.1:p.Val949Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "A", "end": 2951, "referenceAllele": "G", "start": 2950 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.2845G>A" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Val949Ile", "hgvsWellDefined": "XP_011517174.1:p.Val949Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "A", "end": 2745, "referenceAllele": "G", "start": 2744 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.2458G>A" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Val820Ile", "hgvsWellDefined": "XP_011517175.1:p.Val820Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "A", "end": 3498, "referenceAllele": "G", "start": 3497 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.3298G>A" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Val1100Ile", "hgvsWellDefined": "XP_011517176.1:p.Val1100Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA645506415", "coordinates": [ { "allele": "A", "end": 3486, "referenceAllele": "G", "start": 3485 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.3298G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Val1100Ile", "hgvsWellDefined": "NP_000255.2:p.Val1100Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825490374", "coordinates": [ { "allele": "A", "end": 3686, "referenceAllele": "G", "start": 3685 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.3100G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Val1034Ile", "hgvsWellDefined": "NP_001077071.1:p.Val1034Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825497028", "coordinates": [ { "allele": "A", "end": 3440, "referenceAllele": "G", "start": 3439 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.3295G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Val1099Ile", "hgvsWellDefined": "NP_001077072.1:p.Val1099Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825503870", "coordinates": [ { "allele": "A", "end": 3204, "referenceAllele": "G", "start": 3203 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.2845G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Val949Ile", "hgvsWellDefined": "NP_001077073.1:p.Val949Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825507801", "coordinates": [ { "allele": "A", "end": 3187, "referenceAllele": "G", "start": 3186 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.2845G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Val949Ile", "hgvsWellDefined": "NP_001077074.1:p.Val949Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825510798", "coordinates": [ { "allele": "A", "end": 3286, "referenceAllele": "G", "start": 3285 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.2845G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Val949Ile", "hgvsWellDefined": "NP_001077075.1:p.Val949Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA915970216", "coordinates": [ { "allele": "A", "end": 3360, "referenceAllele": "G", "start": 3359 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.2845G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Val949Ile", "hgvsWellDefined": "NP_001077076.1:p.Val949Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828034385", "coordinates": [ { "allele": "A", "end": 3330, "referenceAllele": "G", "start": 3329 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.3142G>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Val1048Ile", "hgvsWellDefined": "NP_001341847.1:p.Val1048Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "A", "end": 3320, "referenceAllele": "G", "start": 3319 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.3320G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA645506415", "coordinates": [ { "allele": "A", "end": 4203, "referenceAllele": "G", "start": 4202 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.3298G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Val1100Ile", "hgvsWellDefined": "NP_000255.2:p.Val1100Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.3298G>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.3298G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Val1100Ile" }, "RefSeq": { "hgvs": "NP_000255.2:p.Val1100Ile" } } } }, { "@id": "http://reg.genome.network/allele/PA2825510798", "coordinates": [ { "allele": "A", "end": 3296, "referenceAllele": "G", "start": 3295 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.2845G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Val949Ile", "hgvsWellDefined": "NP_001077075.1:p.Val949Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828034385", "coordinates": [ { "allele": "A", "end": 4047, "referenceAllele": "G", "start": 4046 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.3142G>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Val1048Ile", "hgvsWellDefined": "NP_001341847.1:p.Val1048Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "A", "end": 4037, "referenceAllele": "G", "start": 4036 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.4037G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825490374", "coordinates": [ { "allele": "A", "end": 3600, "referenceAllele": "G", "start": 3599 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.3100G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Val1034Ile", "hgvsWellDefined": "NP_001077071.1:p.Val1034Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825497028", "coordinates": [ { "allele": "A", "end": 3446, "referenceAllele": "G", "start": 3445 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.3295G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Val1099Ile", "hgvsWellDefined": "NP_001077072.1:p.Val1099Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.3295G>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.3295G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Val1099Ile" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Val1099Ile" } } } }, { "@id": "http://reg.genome.network/allele/PA2825503870", "coordinates": [ { "allele": "A", "end": 3204, "referenceAllele": "G", "start": 3203 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.2845G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Val949Ile", "hgvsWellDefined": "NP_001077073.1:p.Val949Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825507801", "coordinates": [ { "allele": "A", "end": 3187, "referenceAllele": "G", "start": 3186 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.2845G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Val949Ile", "hgvsWellDefined": "NP_001077074.1:p.Val949Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA915970216", "coordinates": [ { "allele": "A", "end": 3360, "referenceAllele": "G", "start": 3359 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.2845G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Val949Ile", "hgvsWellDefined": "NP_001077076.1:p.Val949Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }