{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA349324", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.4043A>G (p.Asn1348Ser)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=221873[alleleid]", "alleleId": 221873, "preferredName": "NM_000264.5(PTCH1):c.4043A>G (p.Asn1348Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/220391", "RCV": [ "RCV000205121", "RCV001021739", "RCV000764837" ], "variationId": 220391 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-98209495-T-C", "id": "9-98209495-T-C", "variant": "9:98209495 T / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98209495T>C?assembly=hg19", "id": "chr9:g.98209495T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95447213T>C?assembly=hg38", "id": "chr9:g.95447213T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/371943557", "rs": 371943557 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98209495-T-C?dataset=gnomad_r2_1", "id": "9-98209495-T-C", "variant": "9:98209495 T / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95447213-T-C?dataset=gnomad_r3", "id": "9-95447213-T-C", "variant": "9:95447213 T / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95447213-T-C?dataset=gnomad_r4", "id": "9-95447213-T-C", "variant": "9:95447213 T / C" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 95447213, "referenceAllele": "T", "start": 95447212 } ], "hgvs": [ "NC_000009.12:g.95447213T>C", "CM000671.2:g.95447213T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 98209495, "referenceAllele": "T", "start": 98209494 } ], "hgvs": [ "NC_000009.11:g.98209495T>C", "CM000671.1:g.98209495T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 97249316, "referenceAllele": "T", "start": 97249315 } ], "hgvs": [ "NC_000009.10:g.97249316T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "G", "end": 74753, "referenceAllele": "A", "start": 74752 } ], "hgvs": [ "NG_007664.1:g.74753A>G", "LRG_515:g.74753A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 4345, "referenceAllele": "A", "start": 4344 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.3845A>G" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Asn1282Ser", "hgvsWellDefined": "ENSP00000518556.1:p.Asn1282Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "G", "end": 4191, "referenceAllele": "A", "start": 4190 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.4040A>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Asn1347Ser", "hgvsWellDefined": "ENSP00000389744.2:p.Asn1347Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.4040A>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.4040A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Asn1347Ser" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Asn1347Ser" } } } }, { "coordinates": [ { "allele": "G", "end": 2240, "referenceAllele": "A", "start": 2239 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000687744.1:n.2240A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS831242" }, { "coordinates": [ { "allele": "G", "end": 3866, "referenceAllele": "A", "start": 3865 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*2351A>G" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*2351A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "G", "end": 3731, "referenceAllele": "A", "start": 3730 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.3590A>G" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Asn1197Ser", "hgvsWellDefined": "ENSP00000510238.1:p.Asn1197Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "G", "end": 1390, "referenceAllele": "A", "start": 1389 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000693534.1:n.1390A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS834291" }, { "coordinates": [ { "allele": "G", "end": 4948, "referenceAllele": "A", "start": 4947 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.4043A>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Asn1348Ser", "hgvsWellDefined": "ENSP00000332353.6:p.Asn1348Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.4043A>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.4043A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Asn1348Ser" }, "RefSeq": { "hgvs": "NP_000255.2:p.Asn1348Ser" } } } }, { "coordinates": [ { "allele": "G", "end": 4343, "referenceAllele": "A", "start": 4342 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.4043A>G" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Asn1348Ser", "hgvsWellDefined": "ENSP00000332353.6:p.Asn1348Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "G", "end": 4185, "referenceAllele": "A", "start": 4184 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.4040A>G" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Asn1347Ser", "hgvsWellDefined": "ENSP00000364423.2:p.Asn1347Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "G", "end": 7349, "referenceAllele": "A", "start": 7348 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.7349A>G" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.7349A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "G", "end": 4105, "referenceAllele": "A", "start": 4104 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.3590A>G" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Asn1197Ser", "hgvsWellDefined": "ENSP00000396135.1:p.Asn1197Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "G", "end": 3949, "referenceAllele": "A", "start": 3948 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.3590A>G" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Asn1197Ser", "hgvsWellDefined": "ENSP00000399981.1:p.Asn1197Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "G", "end": 4031, "referenceAllele": "A", "start": 4030 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.3590A>G" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Asn1197Ser", "hgvsWellDefined": "ENSP00000414823.2:p.Asn1197Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "G", "end": 4431, "referenceAllele": "A", "start": 4430 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.3845A>G" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Asn1282Ser", "hgvsWellDefined": "ENSP00000410287.2:p.Asn1282Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "G", "end": 4339, "referenceAllele": "A", "start": 4338 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.3845A>G" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Asn1282Ser", "hgvsWellDefined": "ENSP00000389744.1:p.Asn1282Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "G", "end": 1107, "referenceAllele": "A", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000546744.5:n.1107A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS365841" }, { "@id": "http://reg.genome.network/allele/PA355654", "coordinates": [ { "allele": "G", "end": 4231, "referenceAllele": "A", "start": 4230 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.4043A>G", "LRG_515t1:c.4043A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Asn1348Ser", "hgvsWellDefined": "NP_000255.2:p.Asn1348Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA349326", "coordinates": [ { "allele": "G", "end": 4339, "referenceAllele": "A", "start": 4338 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.3845A>G", "LRG_515t2:c.3845A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Asn1282Ser", "hgvsWellDefined": "NP_001077071.1:p.Asn1282Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825498464", "coordinates": [ { "allele": "G", "end": 4185, "referenceAllele": "A", "start": 4184 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.4040A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Asn1347Ser", "hgvsWellDefined": "NP_001077072.1:p.Asn1347Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825505242", "coordinates": [ { "allele": "G", "end": 3949, "referenceAllele": "A", "start": 3948 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.3590A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Asn1197Ser", "hgvsWellDefined": "NP_001077073.1:p.Asn1197Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825508438", "coordinates": [ { "allele": "G", "end": 3932, "referenceAllele": "A", "start": 3931 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.3590A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Asn1197Ser", "hgvsWellDefined": "NP_001077074.1:p.Asn1197Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825511433", "coordinates": [ { "allele": "G", "end": 4031, "referenceAllele": "A", "start": 4030 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.3590A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Asn1197Ser", "hgvsWellDefined": "NP_001077075.1:p.Asn1197Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825514179", "coordinates": [ { "allele": "G", "end": 4105, "referenceAllele": "A", "start": 4104 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.3590A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Asn1197Ser", "hgvsWellDefined": "NP_001077076.1:p.Asn1197Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "G", "end": 3789, "referenceAllele": "A", "start": 3788 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.3590A>G" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Asn1197Ser", "hgvsWellDefined": "XP_005252159.1:p.Asn1197Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "G", "end": 4087, "referenceAllele": "A", "start": 4086 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.3887A>G" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Asn1296Ser", "hgvsWellDefined": "XP_011517170.1:p.Asn1296Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "G", "end": 3738, "referenceAllele": "A", "start": 3737 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.3590A>G" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Asn1197Ser", "hgvsWellDefined": "XP_011517171.1:p.Asn1197Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "G", "end": 3726, "referenceAllele": "A", "start": 3725 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.3590A>G" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Asn1197Ser", "hgvsWellDefined": "XP_011517172.1:p.Asn1197Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "G", "end": 3713, "referenceAllele": "A", "start": 3712 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.3590A>G" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Asn1197Ser", "hgvsWellDefined": "XP_011517173.1:p.Asn1197Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "G", "end": 3696, "referenceAllele": "A", "start": 3695 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.3590A>G" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Asn1197Ser", "hgvsWellDefined": "XP_011517174.1:p.Asn1197Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "G", "end": 3490, "referenceAllele": "A", "start": 3489 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.3203A>G" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Asn1068Ser", "hgvsWellDefined": "XP_011517175.1:p.Asn1068Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "@id": "http://reg.genome.network/allele/PA355654", "coordinates": [ { "allele": "G", "end": 4231, "referenceAllele": "A", "start": 4230 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.4043A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Asn1348Ser", "hgvsWellDefined": "NP_000255.2:p.Asn1348Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA349326", "coordinates": [ { "allele": "G", "end": 4431, "referenceAllele": "A", "start": 4430 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.3845A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Asn1282Ser", "hgvsWellDefined": "NP_001077071.1:p.Asn1282Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825498464", "coordinates": [ { "allele": "G", "end": 4185, "referenceAllele": "A", "start": 4184 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.4040A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Asn1347Ser", "hgvsWellDefined": "NP_001077072.1:p.Asn1347Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825505242", "coordinates": [ { "allele": "G", "end": 3949, "referenceAllele": "A", "start": 3948 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.3590A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Asn1197Ser", "hgvsWellDefined": "NP_001077073.1:p.Asn1197Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825508438", "coordinates": [ { "allele": "G", "end": 3932, "referenceAllele": "A", "start": 3931 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.3590A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Asn1197Ser", "hgvsWellDefined": "NP_001077074.1:p.Asn1197Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825511433", "coordinates": [ { "allele": "G", "end": 4031, "referenceAllele": "A", "start": 4030 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.3590A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Asn1197Ser", "hgvsWellDefined": "NP_001077075.1:p.Asn1197Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825514179", "coordinates": [ { "allele": "G", "end": 4105, "referenceAllele": "A", "start": 4104 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.3590A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Asn1197Ser", "hgvsWellDefined": "NP_001077076.1:p.Asn1197Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828035501", "coordinates": [ { "allele": "G", "end": 4075, "referenceAllele": "A", "start": 4074 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.3887A>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Asn1296Ser", "hgvsWellDefined": "NP_001341847.1:p.Asn1296Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "G", "end": 4065, "referenceAllele": "A", "start": 4064 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.4065A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA355654", "coordinates": [ { "allele": "G", "end": 4948, "referenceAllele": "A", "start": 4947 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.4043A>G" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Asn1348Ser", "hgvsWellDefined": "NP_000255.2:p.Asn1348Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.4043A>G" }, "RefSeq": { "hgvs": "NM_000264.5:c.4043A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Asn1348Ser" }, "RefSeq": { "hgvs": "NP_000255.2:p.Asn1348Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA2825511433", "coordinates": [ { "allele": "G", "end": 4041, "referenceAllele": "A", "start": 4040 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.3590A>G" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Asn1197Ser", "hgvsWellDefined": "NP_001077075.1:p.Asn1197Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828035501", "coordinates": [ { "allele": "G", "end": 4792, "referenceAllele": "A", "start": 4791 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.3887A>G" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Asn1296Ser", "hgvsWellDefined": "NP_001341847.1:p.Asn1296Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "G", "end": 4782, "referenceAllele": "A", "start": 4781 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.4782A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA349326", "coordinates": [ { "allele": "G", "end": 4345, "referenceAllele": "A", "start": 4344 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.3845A>G" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Asn1282Ser", "hgvsWellDefined": "NP_001077071.1:p.Asn1282Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825498464", "coordinates": [ { "allele": "G", "end": 4191, "referenceAllele": "A", "start": 4190 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.4040A>G" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Asn1347Ser", "hgvsWellDefined": "NP_001077072.1:p.Asn1347Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.4040A>G" }, "RefSeq": { "hgvs": "NM_001083603.3:c.4040A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Asn1347Ser" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Asn1347Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA2825505242", "coordinates": [ { "allele": "G", "end": 3949, "referenceAllele": "A", "start": 3948 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.3590A>G" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Asn1197Ser", "hgvsWellDefined": "NP_001077073.1:p.Asn1197Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825508438", "coordinates": [ { "allele": "G", "end": 3932, "referenceAllele": "A", "start": 3931 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.3590A>G" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Asn1197Ser", "hgvsWellDefined": "NP_001077074.1:p.Asn1197Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825514179", "coordinates": [ { "allele": "G", "end": 4105, "referenceAllele": "A", "start": 4104 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.3590A>G" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Asn1197Ser", "hgvsWellDefined": "NP_001077076.1:p.Asn1197Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }