{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5138082", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.3706G>A (p.Glu1236Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=836368[alleleid]", "alleleId": 836368, "preferredName": "NM_000264.5(PTCH1):c.3706G>A (p.Glu1236Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/850559", "RCV": [ "RCV001054749", "RCV002348408", "RCV004553598" ], "variationId": 850559 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-98211449-C-T", "id": "9-98211449-C-T", "variant": "9:98211449 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.98211449C>T?assembly=hg19", "id": "chr9:g.98211449C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.95449167C>T?assembly=hg38", "id": "chr9:g.95449167C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/779844193", "rs": 779844193 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-98211449-C-T?dataset=gnomad_r2_1", "id": "9-98211449-C-T", "variant": "9:98211449 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95449167-C-T?dataset=gnomad_r3", "id": "9-95449167-C-T", "variant": "9:95449167 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-95449167-C-T?dataset=gnomad_r4", "id": "9-95449167-C-T", "variant": "9:95449167 C / T" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 95449167, "referenceAllele": "C", "start": 95449166 } ], "hgvs": [ "NC_000009.12:g.95449167C>T", "CM000671.2:g.95449167C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 98211449, "referenceAllele": "C", "start": 98211448 } ], "hgvs": [ "NC_000009.11:g.98211449C>T", "CM000671.1:g.98211449C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 97251270, "referenceAllele": "C", "start": 97251269 } ], "hgvs": [ "NC_000009.10:g.97251270C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 72799, "referenceAllele": "G", "start": 72798 } ], "hgvs": [ "NG_007664.1:g.72799G>A", "LRG_515:g.72799G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 4008, "referenceAllele": "G", "start": 4007 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.3508G>A" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Glu1170Lys", "hgvsWellDefined": "ENSP00000518556.1:p.Glu1170Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "A", "end": 3854, "referenceAllele": "G", "start": 3853 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.3703G>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Glu1235Lys", "hgvsWellDefined": "ENSP00000389744.2:p.Glu1235Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.3703G>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.3703G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Glu1235Lys" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Glu1235Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 1903, "referenceAllele": "G", "start": 1902 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000687744.1:n.1903G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831242" }, { "coordinates": [ { "allele": "A", "end": 3529, "referenceAllele": "G", "start": 3528 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.*2014G>A" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:n.*2014G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "A", "end": 3394, "referenceAllele": "G", "start": 3393 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.3253G>A" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Glu1085Lys", "hgvsWellDefined": "ENSP00000510238.1:p.Glu1085Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "A", "end": 1053, "referenceAllele": "G", "start": 1052 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000693534.1:n.1053G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS834291" }, { "coordinates": [ { "allele": "A", "end": 4611, "referenceAllele": "G", "start": 4610 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.3706G>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Glu1236Lys", "hgvsWellDefined": "ENSP00000332353.6:p.Glu1236Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.3706G>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.3706G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Glu1236Lys" }, "RefSeq": { "hgvs": "NP_000255.2:p.Glu1236Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 4006, "referenceAllele": "G", "start": 4005 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.3706G>A" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Glu1236Lys", "hgvsWellDefined": "ENSP00000332353.6:p.Glu1236Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "A", "end": 3848, "referenceAllele": "G", "start": 3847 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.3703G>A" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Glu1235Lys", "hgvsWellDefined": "ENSP00000364423.2:p.Glu1235Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "A", "end": 7012, "referenceAllele": "G", "start": 7011 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.7012G>A" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:n.7012G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "A", "end": 3768, "referenceAllele": "G", "start": 3767 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.3253G>A" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Glu1085Lys", "hgvsWellDefined": "ENSP00000396135.1:p.Glu1085Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "A", "end": 3612, "referenceAllele": "G", "start": 3611 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.3253G>A" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Glu1085Lys", "hgvsWellDefined": "ENSP00000399981.1:p.Glu1085Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "A", "end": 3694, "referenceAllele": "G", "start": 3693 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.3253G>A" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Glu1085Lys", "hgvsWellDefined": "ENSP00000414823.2:p.Glu1085Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "A", "end": 4094, "referenceAllele": "G", "start": 4093 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.3508G>A" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Glu1170Lys", "hgvsWellDefined": "ENSP00000410287.2:p.Glu1170Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "A", "end": 4002, "referenceAllele": "G", "start": 4001 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.3508G>A" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Glu1170Lys", "hgvsWellDefined": "ENSP00000389744.1:p.Glu1170Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "coordinates": [ { "allele": "A", "end": 770, "referenceAllele": "G", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000546744.5:n.770G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS365841" }, { "@id": "http://reg.genome.network/allele/PA1139679897", "coordinates": [ { "allele": "A", "end": 3894, "referenceAllele": "G", "start": 3893 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.3706G>A", "LRG_515t1:c.3706G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Glu1236Lys", "hgvsWellDefined": "NP_000255.2:p.Glu1236Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825487357", "coordinates": [ { "allele": "A", "end": 4002, "referenceAllele": "G", "start": 4001 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.3508G>A", "LRG_515t2:c.3508G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Glu1170Lys", "hgvsWellDefined": "NP_001077071.1:p.Glu1170Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825497708", "coordinates": [ { "allele": "A", "end": 3848, "referenceAllele": "G", "start": 3847 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.3703G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Glu1235Lys", "hgvsWellDefined": "NP_001077072.1:p.Glu1235Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825504527", "coordinates": [ { "allele": "A", "end": 3612, "referenceAllele": "G", "start": 3611 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.3253G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Glu1085Lys", "hgvsWellDefined": "NP_001077073.1:p.Glu1085Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825508111", "coordinates": [ { "allele": "A", "end": 3595, "referenceAllele": "G", "start": 3594 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.3253G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Glu1085Lys", "hgvsWellDefined": "NP_001077074.1:p.Glu1085Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825511108", "coordinates": [ { "allele": "A", "end": 3694, "referenceAllele": "G", "start": 3693 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.3253G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Glu1085Lys", "hgvsWellDefined": "NP_001077075.1:p.Glu1085Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825513852", "coordinates": [ { "allele": "A", "end": 3768, "referenceAllele": "G", "start": 3767 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.3253G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Glu1085Lys", "hgvsWellDefined": "NP_001077076.1:p.Glu1085Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "A", "end": 3452, "referenceAllele": "G", "start": 3451 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.3253G>A" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Glu1085Lys", "hgvsWellDefined": "XP_005252159.1:p.Glu1085Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "A", "end": 3750, "referenceAllele": "G", "start": 3749 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.3550G>A" ], "proteinEffect": { "hgvs": "XP_011517170.1:p.Glu1184Lys", "hgvsWellDefined": "XP_011517170.1:p.Glu1184Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "A", "end": 3401, "referenceAllele": "G", "start": 3400 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.3253G>A" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Glu1085Lys", "hgvsWellDefined": "XP_011517171.1:p.Glu1085Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "A", "end": 3389, "referenceAllele": "G", "start": 3388 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.3253G>A" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Glu1085Lys", "hgvsWellDefined": "XP_011517172.1:p.Glu1085Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "A", "end": 3376, "referenceAllele": "G", "start": 3375 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.3253G>A" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Glu1085Lys", "hgvsWellDefined": "XP_011517173.1:p.Glu1085Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "A", "end": 3359, "referenceAllele": "G", "start": 3358 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.3253G>A" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Glu1085Lys", "hgvsWellDefined": "XP_011517174.1:p.Glu1085Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "A", "end": 3153, "referenceAllele": "G", "start": 3152 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.2866G>A" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Glu956Lys", "hgvsWellDefined": "XP_011517175.1:p.Glu956Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "@id": "http://reg.genome.network/allele/PA1139679897", "coordinates": [ { "allele": "A", "end": 3894, "referenceAllele": "G", "start": 3893 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.3706G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Glu1236Lys", "hgvsWellDefined": "NP_000255.2:p.Glu1236Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825487357", "coordinates": [ { "allele": "A", "end": 4094, "referenceAllele": "G", "start": 4093 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.3508G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Glu1170Lys", "hgvsWellDefined": "NP_001077071.1:p.Glu1170Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825497708", "coordinates": [ { "allele": "A", "end": 3848, "referenceAllele": "G", "start": 3847 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.3703G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Glu1235Lys", "hgvsWellDefined": "NP_001077072.1:p.Glu1235Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825504527", "coordinates": [ { "allele": "A", "end": 3612, "referenceAllele": "G", "start": 3611 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.3253G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Glu1085Lys", "hgvsWellDefined": "NP_001077073.1:p.Glu1085Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825508111", "coordinates": [ { "allele": "A", "end": 3595, "referenceAllele": "G", "start": 3594 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.3253G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Glu1085Lys", "hgvsWellDefined": "NP_001077074.1:p.Glu1085Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825511108", "coordinates": [ { "allele": "A", "end": 3694, "referenceAllele": "G", "start": 3693 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.3253G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Glu1085Lys", "hgvsWellDefined": "NP_001077075.1:p.Glu1085Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825513852", "coordinates": [ { "allele": "A", "end": 3768, "referenceAllele": "G", "start": 3767 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.3253G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Glu1085Lys", "hgvsWellDefined": "NP_001077076.1:p.Glu1085Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "@id": "http://reg.genome.network/allele/PA2828034949", "coordinates": [ { "allele": "A", "end": 3738, "referenceAllele": "G", "start": 3737 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.3550G>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Glu1184Lys", "hgvsWellDefined": "NP_001341847.1:p.Glu1184Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "A", "end": 3728, "referenceAllele": "G", "start": 3727 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.3728G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA1139679897", "coordinates": [ { "allele": "A", "end": 4611, "referenceAllele": "G", "start": 4610 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.3706G>A" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Glu1236Lys", "hgvsWellDefined": "NP_000255.2:p.Glu1236Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.3706G>A" }, "RefSeq": { "hgvs": "NM_000264.5:c.3706G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Glu1236Lys" }, "RefSeq": { "hgvs": "NP_000255.2:p.Glu1236Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA2825511108", "coordinates": [ { "allele": "A", "end": 3704, "referenceAllele": "G", "start": 3703 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.3253G>A" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Glu1085Lys", "hgvsWellDefined": "NP_001077075.1:p.Glu1085Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "@id": "http://reg.genome.network/allele/PA2828034949", "coordinates": [ { "allele": "A", "end": 4455, "referenceAllele": "G", "start": 4454 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.3550G>A" ], "proteinEffect": { "hgvs": "NP_001341847.1:p.Glu1184Lys", "hgvsWellDefined": "NP_001341847.1:p.Glu1184Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "A", "end": 4445, "referenceAllele": "G", "start": 4444 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.4445G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825487357", "coordinates": [ { "allele": "A", "end": 4008, "referenceAllele": "G", "start": 4007 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.3508G>A" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Glu1170Lys", "hgvsWellDefined": "NP_001077071.1:p.Glu1170Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825497708", "coordinates": [ { "allele": "A", "end": 3854, "referenceAllele": "G", "start": 3853 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.3703G>A" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Glu1235Lys", "hgvsWellDefined": "NP_001077072.1:p.Glu1235Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.3703G>A" }, "RefSeq": { "hgvs": "NM_001083603.3:c.3703G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Glu1235Lys" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Glu1235Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA2825504527", "coordinates": [ { "allele": "A", "end": 3612, "referenceAllele": "G", "start": 3611 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.3253G>A" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Glu1085Lys", "hgvsWellDefined": "NP_001077073.1:p.Glu1085Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825508111", "coordinates": [ { "allele": "A", "end": 3595, "referenceAllele": "G", "start": 3594 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.3253G>A" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Glu1085Lys", "hgvsWellDefined": "NP_001077074.1:p.Glu1085Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825513852", "coordinates": [ { "allele": "A", "end": 3768, "referenceAllele": "G", "start": 3767 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.3253G>A" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Glu1085Lys", "hgvsWellDefined": "NP_001077076.1:p.Glu1085Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }