{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA332515", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.2866A>G (p.Met956Val)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=139597[alleleid]", "alleleId": 139597, "preferredName": "NM_000264.5(PTCH1):c.2866A>G (p.Met956Val)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/135885", "RCV": [ "RCV000123017", "RCV000566411" ], "variationId": 135885 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98221903T>C?assembly=hg19", "id": "chr9:g.98221903T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95459621T>C?assembly=hg38", "id": "chr9:g.95459621T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587780699", "rs": 587780699 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98221903-T-C?dataset=gnomad_r2_1", "id": "9-98221903-T-C", "variant": "9:98221903 T / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95459621-T-C?dataset=gnomad_r3", "id": "9-95459621-T-C", "variant": "9:95459621 T / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95459621-T-C?dataset=gnomad_r4", "id": "9-95459621-T-C", "variant": "9:95459621 T / C" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 95459621, "referenceAllele": "T", "start": 95459620 } ], "hgvs": [ "NC_000009.12:g.95459621T>C", "CM000671.2:g.95459621T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 98221903, "referenceAllele": "T", "start": 98221902 } ], "hgvs": [ "NC_000009.11:g.98221903T>C", "CM000671.1:g.98221903T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 97261724, "referenceAllele": "T", "start": 97261723 } ], "hgvs": [ "NC_000009.10:g.97261724T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "G", "end": 62345, "referenceAllele": "A", "start": 62344 } ], "hgvs": [ "NG_007664.1:g.62345A>G", "LRG_515:g.62345A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 3168, "referenceAllele": "A", "start": 3167 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.2668A>G" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Met890Val", "hgvsWellDefined": "ENSP00000518556.1:p.Met890Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "G", "end": 3014, "referenceAllele": "A", "start": 3013 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.2863A>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Met955Val", "hgvsWellDefined": "ENSP00000389744.2:p.Met955Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.2863A>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2863A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Met955Val" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Met955Val" } } } }, { "coordinates": [ { "allele": "G", "end": 2689, "referenceAllele": "A", "start": 2688 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*1174A>G" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*1174A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "G", "end": 2554, "referenceAllele": "A", "start": 2553 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.2413A>G" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Met805Val", "hgvsWellDefined": "ENSP00000510238.1:p.Met805Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "G", "end": 197, "referenceAllele": "A", "start": 196 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000693534.1:n.197A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS834291" }, { "coordinates": [ { "allele": "G", "end": 3771, "referenceAllele": "A", "start": 3770 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.2866A>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Met956Val", "hgvsWellDefined": "ENSP00000332353.6:p.Met956Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2866A>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.2866A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Met956Val" }, "RefSeq": { "hgvs": "NP_000255.2:p.Met956Val" } } } }, { "coordinates": [ { "allele": "G", "end": 3166, "referenceAllele": "A", "start": 3165 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.2866A>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Met956Val", "hgvsWellDefined": "ENSP00000332353.6:p.Met956Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "G", "end": 3008, "referenceAllele": "A", "start": 3007 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.2863A>G" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Met955Val", "hgvsWellDefined": "ENSP00000364423.2:p.Met955Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "G", "end": 2635, "referenceAllele": "A", "start": 2634 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.2635A>G" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.2635A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "G", "end": 2928, "referenceAllele": "A", "start": 2927 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.2413A>G" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Met805Val", "hgvsWellDefined": "ENSP00000396135.1:p.Met805Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "G", "end": 2772, "referenceAllele": "A", "start": 2771 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.2413A>G" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Met805Val", "hgvsWellDefined": "ENSP00000399981.1:p.Met805Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "G", "end": 2854, "referenceAllele": "A", "start": 2853 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.2413A>G" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Met805Val", "hgvsWellDefined": "ENSP00000414823.2:p.Met805Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "G", "end": 3254, "referenceAllele": "A", "start": 3253 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.2668A>G" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Met890Val", "hgvsWellDefined": "ENSP00000410287.2:p.Met890Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "G", "end": 3162, "referenceAllele": "A", "start": 3161 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.2668A>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Met890Val", "hgvsWellDefined": "ENSP00000389744.1:p.Met890Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "G", "end": 216, "referenceAllele": "A", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000547615.1:n.216A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS366385" }, { "@id": "http://reg.genome.network/allele/PA332519", "coordinates": [ { "allele": "G", "end": 3054, "referenceAllele": "A", "start": 3053 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.2866A>G", "LRG_515t1:c.2866A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Met956Val", "hgvsWellDefined": "NP_000255.2:p.Met956Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA332518", "coordinates": [ { "allele": "G", "end": 3162, "referenceAllele": "A", "start": 3161 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.2668A>G", "LRG_515t2:c.2668A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Met890Val", "hgvsWellDefined": "NP_001077071.1:p.Met890Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825496335", "coordinates": [ { "allele": "G", "end": 3008, "referenceAllele": "A", "start": 3007 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.2863A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Met955Val", "hgvsWellDefined": "NP_001077072.1:p.Met955Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825503443", "coordinates": [ { "allele": "G", "end": 2772, "referenceAllele": "A", "start": 2771 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.2413A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Met805Val", "hgvsWellDefined": "NP_001077073.1:p.Met805Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825507488", "coordinates": [ { "allele": "G", "end": 2755, "referenceAllele": "A", "start": 2754 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.2413A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Met805Val", "hgvsWellDefined": "NP_001077074.1:p.Met805Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825510483", "coordinates": [ { "allele": "G", "end": 2854, "referenceAllele": "A", "start": 2853 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.2413A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Met805Val", "hgvsWellDefined": "NP_001077075.1:p.Met805Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825513350", "coordinates": [ { "allele": "G", "end": 2928, "referenceAllele": "A", "start": 2927 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.2413A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Met805Val", "hgvsWellDefined": "NP_001077076.1:p.Met805Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "G", "end": 2612, "referenceAllele": "A", "start": 2611 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.2413A>G" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Met805Val", "hgvsWellDefined": "XP_005252159.1:p.Met805Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "G", "end": 2910, "referenceAllele": "A", "start": 2909 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.2710A>G" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Met904Val", "hgvsWellDefined": "XP_011517170.1:p.Met904Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "G", "end": 2561, "referenceAllele": "A", "start": 2560 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.2413A>G" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Met805Val", "hgvsWellDefined": "XP_011517171.1:p.Met805Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "G", "end": 2549, "referenceAllele": "A", "start": 2548 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.2413A>G" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Met805Val", "hgvsWellDefined": "XP_011517172.1:p.Met805Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "G", "end": 2536, "referenceAllele": "A", "start": 2535 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.2413A>G" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Met805Val", "hgvsWellDefined": "XP_011517173.1:p.Met805Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "G", "end": 2519, "referenceAllele": "A", "start": 2518 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.2413A>G" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Met805Val", "hgvsWellDefined": "XP_011517174.1:p.Met805Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "G", "end": 2313, "referenceAllele": "A", "start": 2312 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.2026A>G" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Met676Val", "hgvsWellDefined": "XP_011517175.1:p.Met676Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "G", "end": 3066, "referenceAllele": "A", "start": 3065 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.2866A>G" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Met956Val", "hgvsWellDefined": "XP_011517176.1:p.Met956Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA332519", "coordinates": [ { "allele": "G", "end": 3054, "referenceAllele": "A", "start": 3053 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.2866A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Met956Val", "hgvsWellDefined": "NP_000255.2:p.Met956Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA332518", "coordinates": [ { "allele": "G", "end": 3254, "referenceAllele": "A", "start": 3253 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.2668A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Met890Val", "hgvsWellDefined": "NP_001077071.1:p.Met890Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825496335", "coordinates": [ { "allele": "G", "end": 3008, "referenceAllele": "A", "start": 3007 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.2863A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Met955Val", "hgvsWellDefined": "NP_001077072.1:p.Met955Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825503443", "coordinates": [ { "allele": "G", "end": 2772, "referenceAllele": "A", "start": 2771 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.2413A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Met805Val", "hgvsWellDefined": "NP_001077073.1:p.Met805Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825507488", "coordinates": [ { "allele": "G", "end": 2755, "referenceAllele": "A", "start": 2754 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.2413A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Met805Val", "hgvsWellDefined": "NP_001077074.1:p.Met805Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825510483", "coordinates": [ { "allele": "G", "end": 2854, "referenceAllele": "A", "start": 2853 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.2413A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Met805Val", "hgvsWellDefined": "NP_001077075.1:p.Met805Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825513350", "coordinates": [ { "allele": "G", "end": 2928, "referenceAllele": "A", "start": 2927 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.2413A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Met805Val", "hgvsWellDefined": "NP_001077076.1:p.Met805Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828033916", "coordinates": [ { "allele": "G", "end": 2898, "referenceAllele": "A", "start": 2897 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.2710A>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Met904Val", "hgvsWellDefined": "NP_001341847.1:p.Met904Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "G", "end": 2888, "referenceAllele": "A", "start": 2887 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.2888A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA332519", "coordinates": [ { "allele": "G", "end": 3771, "referenceAllele": "A", "start": 3770 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.2866A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Met956Val", "hgvsWellDefined": "NP_000255.2:p.Met956Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.2866A>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.2866A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Met956Val" }, "RefSeq": { "hgvs": "NP_000255.2:p.Met956Val" } } } }, { "@id": "http://reg.genome.network/allele/PA2825510483", "coordinates": [ { "allele": "G", "end": 2864, "referenceAllele": "A", "start": 2863 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.2413A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Met805Val", "hgvsWellDefined": "NP_001077075.1:p.Met805Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828033916", "coordinates": [ { "allele": "G", "end": 3615, "referenceAllele": "A", "start": 3614 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.2710A>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Met904Val", "hgvsWellDefined": "NP_001341847.1:p.Met904Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "G", "end": 3605, "referenceAllele": "A", "start": 3604 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.3605A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA332518", "coordinates": [ { "allele": "G", "end": 3168, "referenceAllele": "A", "start": 3167 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.2668A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Met890Val", "hgvsWellDefined": "NP_001077071.1:p.Met890Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825496335", "coordinates": [ { "allele": "G", "end": 3014, "referenceAllele": "A", "start": 3013 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.2863A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Met955Val", "hgvsWellDefined": "NP_001077072.1:p.Met955Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.2863A>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.2863A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Met955Val" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Met955Val" } } } }, { "@id": "http://reg.genome.network/allele/PA2825503443", "coordinates": [ { "allele": "G", "end": 2772, "referenceAllele": "A", "start": 2771 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.2413A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Met805Val", "hgvsWellDefined": "NP_001077073.1:p.Met805Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825507488", "coordinates": [ { "allele": "G", "end": 2755, "referenceAllele": "A", "start": 2754 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.2413A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Met805Val", "hgvsWellDefined": "NP_001077074.1:p.Met805Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825513350", "coordinates": [ { "allele": "G", "end": 2928, "referenceAllele": "A", "start": 2927 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.2413A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Met805Val", "hgvsWellDefined": "NP_001077076.1:p.Met805Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }