{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA373323917", "communityStandardTitle": [ "NM_032634.4(PIGO):c.606A>C (p.Arg202Ser)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.35094262T>G?assembly=hg19", "id": "chr9:g.35094262T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.35094265T>G?assembly=hg38", "id": "chr9:g.35094265T>G" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 35094265, "referenceAllele": "T", "start": 35094264 } ], "hgvs": [ "NC_000009.12:g.35094265T>G", "CM000671.2:g.35094265T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 35094262, "referenceAllele": "T", "start": 35094261 } ], "hgvs": [ "NC_000009.11:g.35094262T>G", "CM000671.1:g.35094262T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "G", "end": 35084262, "referenceAllele": "T", "start": 35084261 } ], "hgvs": [ "NC_000009.10:g.35084262T>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "C", "end": 7337, "referenceAllele": "A", "start": 7336 } ], "hgvs": [ "NG_031990.1:g.7337A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS005081" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 666, "referenceAllele": "A", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000361778.7:c.606A>C" ], "proteinEffect": { "hgvs": "ENSP00000354678.2:p.Arg202Ser", "hgvsWellDefined": "ENSP00000354678.2:p.Arg202Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS904476" }, { "coordinates": [ { "allele": "C", "end": 1293, "referenceAllele": "A", "start": 1292 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700254.1:c.606A>C" ], "proteinEffect": { "hgvs": "ENSP00000514892.1:p.Arg202Ser", "hgvsWellDefined": "ENSP00000514892.1:p.Arg202Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS911081" }, { "coordinates": [ { "allele": "C", "end": 638, "referenceAllele": "A", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700255.1:c.606A>C" ], "proteinEffect": { "hgvs": "ENSP00000514893.1:p.Arg202Ser", "hgvsWellDefined": "ENSP00000514893.1:p.Arg202Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS911082" }, { "coordinates": [ { "allele": "C", "end": 638, "referenceAllele": "A", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700256.1:n.638A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS911083" }, { "coordinates": [ { "allele": "C", "end": 638, "referenceAllele": "A", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700257.1:c.606A>C" ], "proteinEffect": { "hgvs": "ENSP00000514894.1:p.Arg202Ser", "hgvsWellDefined": "ENSP00000514894.1:p.Arg202Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS911084" }, { "coordinates": [ { "allele": "C", "end": 638, "referenceAllele": "A", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700259.1:c.606A>C" ], "proteinEffect": { "hgvs": "ENSP00000514895.1:p.Arg202Ser", "hgvsWellDefined": "ENSP00000514895.1:p.Arg202Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS911086" }, { "coordinates": [ { "allele": "C", "end": 606, "referenceAllele": "A", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700260.1:c.606A>C" ], "proteinEffect": { "hgvs": "ENSP00000514896.1:p.Arg202Ser", "hgvsWellDefined": "ENSP00000514896.1:p.Arg202Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS911087" }, { "coordinates": [ { "allele": "C", "end": 635, "referenceAllele": "A", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700261.1:c.606A>C" ], "proteinEffect": { "hgvs": "ENSP00000514897.1:p.Arg202Ser", "hgvsWellDefined": "ENSP00000514897.1:p.Arg202Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS911088" }, { "coordinates": [ { "allele": "C", "end": 652, "referenceAllele": "A", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700262.1:c.606A>C" ], "proteinEffect": { "hgvs": "ENSP00000514898.1:p.Arg202Ser", "hgvsWellDefined": "ENSP00000514898.1:p.Arg202Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS911089" }, { "coordinates": [ { "allele": "C", "end": 606, "referenceAllele": "A", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700263.1:c.606A>C" ], "proteinEffect": { "hgvs": "ENSP00000514899.1:p.Arg202Ser", "hgvsWellDefined": "ENSP00000514899.1:p.Arg202Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS911090" }, { "coordinates": [ { "allele": "C", "end": 638, "referenceAllele": "A", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700264.1:c.606A>C" ], "proteinEffect": { "hgvs": "ENSP00000514900.1:p.Arg202Ser", "hgvsWellDefined": "ENSP00000514900.1:p.Arg202Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS911091" }, { "coordinates": [ { "allele": "C", "end": 1044, "referenceAllele": "A", "start": 1043 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000378617.4:c.606A>C" ], "proteinEffect": { "hgvs": "ENSP00000367880.3:p.Arg202Ser", "hgvsWellDefined": "ENSP00000367880.3:p.Arg202Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS752111", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378617.4:c.606A>C" }, "RefSeq": { "hgvs": "NM_032634.4:c.606A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367880.3:p.Arg202Ser" }, "RefSeq": { "hgvs": "NP_116023.2:p.Arg202Ser" } } } }, { "coordinates": [ { "allele": "C", "end": 771, "referenceAllele": "A", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000298004.9:c.606A>C" ], "proteinEffect": { "hgvs": "ENSP00000298004.5:p.Arg202Ser", "hgvsWellDefined": "ENSP00000298004.5:p.Arg202Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS254540" }, { "coordinates": [ { "allele": "C", "end": 648, "referenceAllele": "A", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000361778.6:c.606A>C" ], "proteinEffect": { "hgvs": "ENSP00000354678.2:p.Arg202Ser", "hgvsWellDefined": "ENSP00000354678.2:p.Arg202Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS265650" }, { "coordinates": [ { "allele": "C", "end": 1001, "referenceAllele": "A", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000378617.3:c.606A>C" ], "proteinEffect": { "hgvs": "ENSP00000367880.3:p.Arg202Ser", "hgvsWellDefined": "ENSP00000367880.3:p.Arg202Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS272119" }, { "coordinates": [ { "allele": "C", "end": 623, "referenceAllele": "A", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000465745.6:n.623A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS309284" }, { "coordinates": [ { "allele": "C", "end": 707, "referenceAllele": "A", "start": 706 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000472208.1:n.707A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS314241" }, { "coordinates": [ { "allele": "C", "end": 1591, "referenceAllele": "A", "start": 1590 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000474436.1:n.1591A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS315960" }, { "coordinates": [ { "allele": "C", "end": 1100, "referenceAllele": "A", "start": 1099 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "NM_001201484.1:c.606A>C" ], "proteinEffect": { "hgvs": "NP_001188413.1:p.Arg202Ser", "hgvsWellDefined": "NP_001188413.1:p.Arg202Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS017358" }, { "coordinates": [ { "allele": "C", "end": 1002, "referenceAllele": "A", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "NM_032634.3:c.606A>C" ], "proteinEffect": { "hgvs": "NP_116023.2:p.Arg202Ser", "hgvsWellDefined": "NP_116023.2:p.Arg202Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS039231" }, { "coordinates": [ { "allele": "C", "end": 648, "referenceAllele": "A", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "NM_152850.3:c.606A>C" ], "proteinEffect": { "hgvs": "NP_690577.2:p.Arg202Ser", "hgvsWellDefined": "NP_690577.2:p.Arg202Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS042171" }, { "coordinates": [ { "allele": "C", "end": 627, "referenceAllele": "A", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XM_005251619.2:c.606A>C" ], "proteinEffect": { "hgvs": "XP_005251676.1:p.Arg202Ser", "hgvsWellDefined": "XP_005251676.1:p.Arg202Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS059605" }, { "coordinates": [ { "allele": "C", "end": 630, "referenceAllele": "A", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XM_011518056.1:c.606A>C" ], "proteinEffect": { "hgvs": "XP_011516358.1:p.Arg202Ser", "hgvsWellDefined": "XP_011516358.1:p.Arg202Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS085237" }, { "coordinates": [ { "allele": "C", "end": 627, "referenceAllele": "A", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XR_242515.1:n.627A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS116292" }, { "coordinates": [ { "allele": "C", "end": 627, "referenceAllele": "A", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XM_005251619.3:c.606A>C" ], "proteinEffect": { "hgvs": "XP_005251676.1:p.Arg202Ser", "hgvsWellDefined": "XP_005251676.1:p.Arg202Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS533632" }, { "coordinates": [ { "allele": "C", "end": 1119, "referenceAllele": "A", "start": 1118 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XM_017015222.2:c.606A>C" ], "proteinEffect": { "hgvs": "XP_016870711.1:p.Arg202Ser", "hgvsWellDefined": "XP_016870711.1:p.Arg202Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS567997" }, { "coordinates": [ { "allele": "C", "end": 1029, "referenceAllele": "A", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XM_017015223.1:c.606A>C" ], "proteinEffect": { "hgvs": "XP_016870712.1:p.Arg202Ser", "hgvsWellDefined": "XP_016870712.1:p.Arg202Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS567998" }, { "coordinates": [ { "allele": "C", "end": 1293, "referenceAllele": "A", "start": 1292 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XM_017015224.1:c.606A>C" ], "proteinEffect": { "hgvs": "XP_016870713.1:p.Arg202Ser", "hgvsWellDefined": "XP_016870713.1:p.Arg202Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS567999" }, { "coordinates": [ { "allele": "C", "end": 1029, "referenceAllele": "A", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XR_001746390.1:n.1029A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS594718" }, { "coordinates": [ { "allele": "C", "end": 627, "referenceAllele": "A", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XR_001746391.2:n.627A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS594719" }, { "coordinates": [ { "allele": "C", "end": 627, "referenceAllele": "A", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XR_242515.3:n.627A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS605917" }, { "coordinates": [ { "allele": "C", "end": 1044, "referenceAllele": "A", "start": 1043 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "NM_032634.4:c.606A>C" ], "proteinEffect": { "hgvs": "NP_116023.2:p.Arg202Ser", "hgvsWellDefined": "NP_116023.2:p.Arg202Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS699161", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378617.4:c.606A>C" }, "RefSeq": { "hgvs": "NM_032634.4:c.606A>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367880.3:p.Arg202Ser" }, "RefSeq": { "hgvs": "NP_116023.2:p.Arg202Ser" } } } }, { "coordinates": [ { "allele": "C", "end": 1142, "referenceAllele": "A", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "NM_001201484.2:c.606A>C" ], "proteinEffect": { "hgvs": "NP_001188413.1:p.Arg202Ser", "hgvsWellDefined": "NP_001188413.1:p.Arg202Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS714068" }, { "coordinates": [ { "allele": "C", "end": 638, "referenceAllele": "A", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "NM_152850.4:c.606A>C" ], "proteinEffect": { "hgvs": "NP_690577.2:p.Arg202Ser", "hgvsWellDefined": "NP_690577.2:p.Arg202Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS729432" } ], "type": "nucleotide" }