{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA373443951", "communityStandardTitle": [ "NM_012203.2(GRHPR):c.688T>C (p.Phe230Leu)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.37430597T>C?assembly=hg19", "id": "chr9:g.37430597T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.37430600T>C?assembly=hg38", "id": "chr9:g.37430600T>C" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 37430600, "referenceAllele": "T", "start": 37430599 } ], "hgvs": [ "NC_000009.12:g.37430600T>C", "CM000671.2:g.37430600T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 37430597, "referenceAllele": "T", "start": 37430596 } ], "hgvs": [ "NC_000009.11:g.37430597T>C", "CM000671.1:g.37430597T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 37420597, "referenceAllele": "T", "start": 37420596 } ], "hgvs": [ "NC_000009.10:g.37420597T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "C", "end": 12891, "referenceAllele": "T", "start": 12890 } ], "hgvs": [ "NG_008135.1:g.12891T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS000881" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 743, "referenceAllele": "T", "start": 742 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "ENST00000318158.11:c.688T>C" ], "proteinEffect": { "hgvs": "ENSP00000313432.6:p.Phe230Leu", "hgvsWellDefined": "ENSP00000313432.6:p.Phe230Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS746197", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000318158.11:c.688T>C" }, "RefSeq": { "hgvs": "NM_012203.2:c.688T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000313432.6:p.Phe230Leu" }, "RefSeq": { "hgvs": "NP_036335.1:p.Phe230Leu" } } } }, { "coordinates": [ { "allele": "C", "end": 773, "referenceAllele": "T", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "ENST00000318158.10:c.688T>C" ], "proteinEffect": { "hgvs": "ENSP00000313432.6:p.Phe230Leu", "hgvsWellDefined": "ENSP00000313432.6:p.Phe230Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS257492" }, { "coordinates": [ { "allele": "C", "end": 725, "referenceAllele": "T", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "ENST00000377824.8:n.725T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS271754" }, { "coordinates": [ { "allele": "C", "end": 715, "referenceAllele": "T", "start": 714 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "ENST00000460882.5:n.715T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS305526" }, { "coordinates": [ { "allele": "C", "end": 1389, "referenceAllele": "T", "start": 1388 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "ENST00000480596.5:n.1389T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS320706" }, { "coordinates": [ { "allele": "C", "end": 141, "referenceAllele": "T", "start": 140 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "ENST00000482603.1:n.141T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS322258" }, { "coordinates": [ { "allele": "C", "end": 393, "referenceAllele": "T", "start": 392 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "ENST00000491488.5:n.393T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS329080" }, { "coordinates": [ { "allele": "C", "end": 932, "referenceAllele": "T", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "ENST00000494290.1:c.259T>C" ], "proteinEffect": { "hgvs": "ENSP00000432021.1:p.Phe87Leu", "hgvsWellDefined": "ENSP00000432021.1:p.Phe87Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS331257" }, { "coordinates": [ { "allele": "C", "end": 2895, "referenceAllele": "T", "start": 2894 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "ENST00000497693.1:n.2895T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS333871" }, { "coordinates": [ { "allele": "C", "end": 693, "referenceAllele": "T", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "ENST00000607784.1:c.688T>C" ], "proteinEffect": { "hgvs": "ENSP00000475569.1:p.Phe230Leu", "hgvsWellDefined": "ENSP00000475569.1:p.Phe230Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS399944" }, { "@id": "http://reg.genome.network/allele/PA1139717667", "coordinates": [ { "allele": "C", "end": 729, "referenceAllele": "T", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "NM_012203.1:c.688T>C" ], "proteinEffect": { "hgvs": "NP_036335.1:p.Phe230Leu", "hgvsWellDefined": "NP_036335.1:p.Phe230Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS032392" }, { "coordinates": [ { "allele": "C", "end": 422, "referenceAllele": "T", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "XM_005251631.1:c.367T>C" ], "proteinEffect": { "hgvs": "XP_005251688.1:p.Phe123Leu", "hgvsWellDefined": "XP_005251688.1:p.Phe123Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS059608" }, { "coordinates": [ { "allele": "C", "end": 1079, "referenceAllele": "T", "start": 1078 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "XM_011518073.1:c.286T>C" ], "proteinEffect": { "hgvs": "XP_011516375.1:p.Phe96Leu", "hgvsWellDefined": "XP_011516375.1:p.Phe96Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS085252" }, { "coordinates": [ { "allele": "C", "end": 1133, "referenceAllele": "T", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "XR_929374.1:n.1133T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS125523" }, { "coordinates": [ { "allele": "C", "end": 744, "referenceAllele": "T", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "XM_017015320.2:c.688T>C" ], "proteinEffect": { "hgvs": "XP_016870809.1:p.Phe230Leu", "hgvsWellDefined": "XP_016870809.1:p.Phe230Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS568069" }, { "coordinates": [ { "allele": "C", "end": 744, "referenceAllele": "T", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "XM_017015321.2:c.688T>C" ], "proteinEffect": { "hgvs": "XP_016870810.1:p.Phe230Leu", "hgvsWellDefined": "XP_016870810.1:p.Phe230Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS568070" }, { "coordinates": [ { "allele": "C", "end": 1104, "referenceAllele": "T", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "XM_017015323.2:c.286T>C" ], "proteinEffect": { "hgvs": "XP_016870812.1:p.Phe96Leu", "hgvsWellDefined": "XP_016870812.1:p.Phe96Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS568071" }, { "coordinates": [ { "allele": "C", "end": 976, "referenceAllele": "T", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "XM_024447716.1:c.961T>C" ], "proteinEffect": { "hgvs": "XP_024303484.1:p.Phe321Leu", "hgvsWellDefined": "XP_024303484.1:p.Phe321Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS581297" }, { "coordinates": [ { "allele": "C", "end": 976, "referenceAllele": "T", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "XM_024447717.1:c.961T>C" ], "proteinEffect": { "hgvs": "XP_024303485.1:p.Phe321Leu", "hgvsWellDefined": "XP_024303485.1:p.Phe321Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS581298" }, { "coordinates": [ { "allele": "C", "end": 976, "referenceAllele": "T", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "XR_002956828.1:n.976T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS602966" }, { "coordinates": [ { "allele": "C", "end": 976, "referenceAllele": "T", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "XR_002956829.1:n.976T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS602967" }, { "coordinates": [ { "allele": "C", "end": 747, "referenceAllele": "T", "start": 746 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "XR_002956830.1:n.747T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS602968" }, { "coordinates": [ { "allele": "C", "end": 422, "referenceAllele": "T", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "XR_002956831.1:n.422T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS602969" }, { "coordinates": [ { "allele": "C", "end": 1107, "referenceAllele": "T", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "XR_002956832.1:n.1107T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS602970" }, { "@id": "http://reg.genome.network/allele/PA1139717667", "coordinates": [ { "allele": "C", "end": 743, "referenceAllele": "T", "start": 742 } ], "gene": "http://reg.genome.network/gene/GN004570", "geneNCBI_id": 9380, "geneSymbol": "GRHPR", "hgvs": [ "NM_012203.2:c.688T>C" ], "proteinEffect": { "hgvs": "NP_036335.1:p.Phe230Leu", "hgvsWellDefined": "NP_036335.1:p.Phe230Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS667943", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000318158.11:c.688T>C" }, "RefSeq": { "hgvs": "NM_012203.2:c.688T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000313432.6:p.Phe230Leu" }, "RefSeq": { "hgvs": "NP_036335.1:p.Phe230Leu" } } } } ], "type": "nucleotide" }