{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA332089", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=136501[alleleid]", "alleleId": 136501, "preferredName": "NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/132753", "RCV": [ "RCV000119211", "RCV000567632", "RCV000764839", "RCV001166720", "RCV003237716", "RCV004551172" ], "variationId": 132753 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-98209619-G-A", "id": "9-98209619-G-A", "variant": "9:98209619 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98209619G>A?assembly=hg19", "id": "chr9:g.98209619G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95447337G>A?assembly=hg38", "id": "chr9:g.95447337G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/574880967", "rs": 574880967 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98209619-G-A?dataset=gnomad_r2_1", "id": "9-98209619-G-A", "variant": "9:98209619 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95447337-G-A?dataset=gnomad_r3", "id": "9-95447337-G-A", "variant": "9:95447337 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95447337-G-A?dataset=gnomad_r4", "id": "9-95447337-G-A", "variant": "9:95447337 G / A" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 95447337, "referenceAllele": "G", "start": 95447336 } ], "hgvs": [ "NC_000009.12:g.95447337G>A", "CM000671.2:g.95447337G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 98209619, "referenceAllele": "G", "start": 98209618 } ], "hgvs": [ "NC_000009.11:g.98209619G>A", "CM000671.1:g.98209619G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 97249440, "referenceAllele": "G", "start": 97249439 } ], "hgvs": [ "NC_000009.10:g.97249440G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 74629, "referenceAllele": "C", "start": 74628 } ], "hgvs": [ "NG_007664.1:g.74629C>T", "LRG_515:g.74629C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4221, "referenceAllele": "C", "start": 4220 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.3721C>T" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Pro1241Ser", "hgvsWellDefined": "ENSP00000518556.1:p.Pro1241Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "T", "end": 4067, "referenceAllele": "C", "start": 4066 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.3916C>T" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Pro1306Ser", "hgvsWellDefined": "ENSP00000389744.2:p.Pro1306Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.3916C>T" }, "RefSeq": { "hgvs": "NM_001083603.3:c.3916C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Pro1306Ser" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Pro1306Ser" } } } }, { "coordinates": [ { "allele": "T", "end": 2116, "referenceAllele": "C", "start": 2115 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000687744.1:n.2116C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831242" }, { "coordinates": [ { "allele": "T", "end": 3742, "referenceAllele": "C", "start": 3741 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*2227C>T" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*2227C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "T", "end": 3607, "referenceAllele": "C", "start": 3606 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.3466C>T" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Pro1156Ser", "hgvsWellDefined": "ENSP00000510238.1:p.Pro1156Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "T", "end": 1266, "referenceAllele": "C", "start": 1265 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000693534.1:n.1266C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS834291" }, { "coordinates": [ { "allele": "T", "end": 4824, "referenceAllele": "C", "start": 4823 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.3919C>T" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Pro1307Ser", "hgvsWellDefined": "ENSP00000332353.6:p.Pro1307Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.3919C>T" }, "RefSeq": { "hgvs": "NM_000264.5:c.3919C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Pro1307Ser" }, "RefSeq": { "hgvs": "NP_000255.2:p.Pro1307Ser" } } } }, { "coordinates": [ { "allele": "T", "end": 4219, "referenceAllele": "C", "start": 4218 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.3919C>T" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Pro1307Ser", "hgvsWellDefined": "ENSP00000332353.6:p.Pro1307Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "T", "end": 4061, "referenceAllele": "C", "start": 4060 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.3916C>T" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Pro1306Ser", "hgvsWellDefined": "ENSP00000364423.2:p.Pro1306Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "T", "end": 7225, "referenceAllele": "C", "start": 7224 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.7225C>T" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.7225C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "T", "end": 3981, "referenceAllele": "C", "start": 3980 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.3466C>T" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Pro1156Ser", "hgvsWellDefined": "ENSP00000396135.1:p.Pro1156Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "T", "end": 3825, "referenceAllele": "C", "start": 3824 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.3466C>T" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Pro1156Ser", "hgvsWellDefined": "ENSP00000399981.1:p.Pro1156Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "T", "end": 3907, "referenceAllele": "C", "start": 3906 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.3466C>T" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Pro1156Ser", "hgvsWellDefined": "ENSP00000414823.2:p.Pro1156Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "T", "end": 4307, "referenceAllele": "C", "start": 4306 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.3721C>T" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Pro1241Ser", "hgvsWellDefined": "ENSP00000410287.2:p.Pro1241Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "T", "end": 4215, "referenceAllele": "C", "start": 4214 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.3721C>T" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Pro1241Ser", "hgvsWellDefined": "ENSP00000389744.1:p.Pro1241Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "T", "end": 983, "referenceAllele": "C", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000546744.5:n.983C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS365841" }, { "@id": "http://reg.genome.network/allele/PA332093", "coordinates": [ { "allele": "T", "end": 4107, "referenceAllele": "C", "start": 4106 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.3919C>T", "LRG_515t1:c.3919C>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Pro1307Ser", "hgvsWellDefined": "NP_000255.2:p.Pro1307Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA332092", "coordinates": [ { "allele": "T", "end": 4215, "referenceAllele": "C", "start": 4214 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.3721C>T", "LRG_515t2:c.3721C>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Pro1241Ser", "hgvsWellDefined": "NP_001077071.1:p.Pro1241Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825498213", "coordinates": [ { "allele": "T", "end": 4061, "referenceAllele": "C", "start": 4060 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.3916C>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Pro1306Ser", "hgvsWellDefined": "NP_001077072.1:p.Pro1306Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825504942", "coordinates": [ { "allele": "T", "end": 3825, "referenceAllele": "C", "start": 3824 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.3466C>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Pro1156Ser", "hgvsWellDefined": "NP_001077073.1:p.Pro1156Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825508316", "coordinates": [ { "allele": "T", "end": 3808, "referenceAllele": "C", "start": 3807 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.3466C>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Pro1156Ser", "hgvsWellDefined": "NP_001077074.1:p.Pro1156Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825511309", "coordinates": [ { "allele": "T", "end": 3907, "referenceAllele": "C", "start": 3906 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.3466C>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Pro1156Ser", "hgvsWellDefined": "NP_001077075.1:p.Pro1156Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825514052", "coordinates": [ { "allele": "T", "end": 3981, "referenceAllele": "C", "start": 3980 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.3466C>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Pro1156Ser", "hgvsWellDefined": "NP_001077076.1:p.Pro1156Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "T", "end": 3665, "referenceAllele": "C", "start": 3664 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.3466C>T" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Pro1156Ser", "hgvsWellDefined": "XP_005252159.1:p.Pro1156Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "T", "end": 3963, "referenceAllele": "C", "start": 3962 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.3763C>T" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Pro1255Ser", "hgvsWellDefined": "XP_011517170.1:p.Pro1255Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "T", "end": 3614, "referenceAllele": "C", "start": 3613 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.3466C>T" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Pro1156Ser", "hgvsWellDefined": "XP_011517171.1:p.Pro1156Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "T", "end": 3602, "referenceAllele": "C", "start": 3601 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.3466C>T" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Pro1156Ser", "hgvsWellDefined": "XP_011517172.1:p.Pro1156Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "T", "end": 3589, "referenceAllele": "C", "start": 3588 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.3466C>T" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Pro1156Ser", "hgvsWellDefined": "XP_011517173.1:p.Pro1156Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "T", "end": 3572, "referenceAllele": "C", "start": 3571 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.3466C>T" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Pro1156Ser", "hgvsWellDefined": "XP_011517174.1:p.Pro1156Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "T", "end": 3366, "referenceAllele": "C", "start": 3365 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.3079C>T" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Pro1027Ser", "hgvsWellDefined": "XP_011517175.1:p.Pro1027Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "@id": "http://reg.genome.network/allele/PA332093", "coordinates": [ { "allele": "T", "end": 4107, "referenceAllele": "C", "start": 4106 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.3919C>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Pro1307Ser", "hgvsWellDefined": "NP_000255.2:p.Pro1307Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA332092", "coordinates": [ { "allele": "T", "end": 4307, "referenceAllele": "C", "start": 4306 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.3721C>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Pro1241Ser", "hgvsWellDefined": "NP_001077071.1:p.Pro1241Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825498213", "coordinates": [ { "allele": "T", "end": 4061, "referenceAllele": "C", "start": 4060 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.3916C>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Pro1306Ser", "hgvsWellDefined": "NP_001077072.1:p.Pro1306Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825504942", "coordinates": [ { "allele": "T", "end": 3825, "referenceAllele": "C", "start": 3824 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.3466C>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Pro1156Ser", "hgvsWellDefined": "NP_001077073.1:p.Pro1156Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825508316", "coordinates": [ { "allele": "T", "end": 3808, "referenceAllele": "C", "start": 3807 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.3466C>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Pro1156Ser", "hgvsWellDefined": "NP_001077074.1:p.Pro1156Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825511309", "coordinates": [ { "allele": "T", "end": 3907, "referenceAllele": "C", "start": 3906 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.3466C>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Pro1156Ser", "hgvsWellDefined": "NP_001077075.1:p.Pro1156Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825514052", "coordinates": [ { "allele": "T", "end": 3981, "referenceAllele": "C", "start": 3980 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.3466C>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Pro1156Ser", "hgvsWellDefined": "NP_001077076.1:p.Pro1156Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828035280", "coordinates": [ { "allele": "T", "end": 3951, "referenceAllele": "C", "start": 3950 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.3763C>T" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Pro1255Ser", "hgvsWellDefined": "NP_001341847.1:p.Pro1255Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "T", "end": 3941, "referenceAllele": "C", "start": 3940 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.3941C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA332093", "coordinates": [ { "allele": "T", "end": 4824, "referenceAllele": "C", "start": 4823 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.3919C>T" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Pro1307Ser", "hgvsWellDefined": "NP_000255.2:p.Pro1307Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.3919C>T" }, "RefSeq": { "hgvs": "NM_000264.5:c.3919C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Pro1307Ser" }, "RefSeq": { "hgvs": "NP_000255.2:p.Pro1307Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA2825511309", "coordinates": [ { "allele": "T", "end": 3917, "referenceAllele": "C", "start": 3916 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.3466C>T" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Pro1156Ser", "hgvsWellDefined": "NP_001077075.1:p.Pro1156Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828035280", "coordinates": [ { "allele": "T", "end": 4668, "referenceAllele": "C", "start": 4667 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.3763C>T" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Pro1255Ser", "hgvsWellDefined": "NP_001341847.1:p.Pro1255Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "T", "end": 4658, "referenceAllele": "C", "start": 4657 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.4658C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA332092", "coordinates": [ { "allele": "T", "end": 4221, "referenceAllele": "C", "start": 4220 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.3721C>T" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Pro1241Ser", "hgvsWellDefined": "NP_001077071.1:p.Pro1241Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825498213", "coordinates": [ { "allele": "T", "end": 4067, "referenceAllele": "C", "start": 4066 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.3916C>T" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Pro1306Ser", "hgvsWellDefined": "NP_001077072.1:p.Pro1306Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.3916C>T" }, "RefSeq": { "hgvs": "NM_001083603.3:c.3916C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Pro1306Ser" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Pro1306Ser" } } } }, { "@id": "http://reg.genome.network/allele/PA2825504942", "coordinates": [ { "allele": "T", "end": 3825, "referenceAllele": "C", "start": 3824 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.3466C>T" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Pro1156Ser", "hgvsWellDefined": "NP_001077073.1:p.Pro1156Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825508316", "coordinates": [ { "allele": "T", "end": 3808, "referenceAllele": "C", "start": 3807 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.3466C>T" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Pro1156Ser", "hgvsWellDefined": "NP_001077074.1:p.Pro1156Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825514052", "coordinates": [ { "allele": "T", "end": 3981, "referenceAllele": "C", "start": 3980 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.3466C>T" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Pro1156Ser", "hgvsWellDefined": "NP_001077076.1:p.Pro1156Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }