{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA373323910", "communityStandardTitle": [ "NM_032634.4(PIGO):c.608A>G (p.Asp203Gly)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.35094260T>C?assembly=hg19", "id": "chr9:g.35094260T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.35094263T>C?assembly=hg38", "id": "chr9:g.35094263T>C" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 35094263, "referenceAllele": "T", "start": 35094262 } ], "hgvs": [ "NC_000009.12:g.35094263T>C", "CM000671.2:g.35094263T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 35094260, "referenceAllele": "T", "start": 35094259 } ], "hgvs": [ "NC_000009.11:g.35094260T>C", "CM000671.1:g.35094260T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 35084260, "referenceAllele": "T", "start": 35084259 } ], "hgvs": [ "NC_000009.10:g.35084260T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "G", "end": 7339, "referenceAllele": "A", "start": 7338 } ], "hgvs": [ "NG_031990.1:g.7339A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS005081" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 668, "referenceAllele": "A", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000361778.7:c.608A>G" ], "proteinEffect": { "hgvs": "ENSP00000354678.2:p.Asp203Gly", "hgvsWellDefined": "ENSP00000354678.2:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS904476" }, { "coordinates": [ { "allele": "G", "end": 1295, "referenceAllele": "A", "start": 1294 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700254.1:c.608A>G" ], "proteinEffect": { "hgvs": "ENSP00000514892.1:p.Asp203Gly", "hgvsWellDefined": "ENSP00000514892.1:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911081" }, { "coordinates": [ { "allele": "G", "end": 640, "referenceAllele": "A", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700255.1:c.608A>G" ], "proteinEffect": { "hgvs": "ENSP00000514893.1:p.Asp203Gly", "hgvsWellDefined": "ENSP00000514893.1:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911082" }, { "coordinates": [ { "allele": "G", "end": 640, "referenceAllele": "A", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700256.1:n.640A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS911083" }, { "coordinates": [ { "allele": "G", "end": 640, "referenceAllele": "A", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700257.1:c.608A>G" ], "proteinEffect": { "hgvs": "ENSP00000514894.1:p.Asp203Gly", "hgvsWellDefined": "ENSP00000514894.1:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911084" }, { "coordinates": [ { "allele": "G", "end": 640, "referenceAllele": "A", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700259.1:c.608A>G" ], "proteinEffect": { "hgvs": "ENSP00000514895.1:p.Asp203Gly", "hgvsWellDefined": "ENSP00000514895.1:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911086" }, { "coordinates": [ { "allele": "G", "end": 608, "referenceAllele": "A", "start": 607 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700260.1:c.608A>G" ], "proteinEffect": { "hgvs": "ENSP00000514896.1:p.Asp203Gly", "hgvsWellDefined": "ENSP00000514896.1:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911087" }, { "coordinates": [ { "allele": "G", "end": 637, "referenceAllele": "A", "start": 636 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700261.1:c.608A>G" ], "proteinEffect": { "hgvs": "ENSP00000514897.1:p.Asp203Gly", "hgvsWellDefined": "ENSP00000514897.1:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911088" }, { "coordinates": [ { "allele": "G", "end": 654, "referenceAllele": "A", "start": 653 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700262.1:c.608A>G" ], "proteinEffect": { "hgvs": "ENSP00000514898.1:p.Asp203Gly", "hgvsWellDefined": "ENSP00000514898.1:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911089" }, { "coordinates": [ { "allele": "G", "end": 608, "referenceAllele": "A", "start": 607 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700263.1:c.608A>G" ], "proteinEffect": { "hgvs": "ENSP00000514899.1:p.Asp203Gly", "hgvsWellDefined": "ENSP00000514899.1:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911090" }, { "coordinates": [ { "allele": "G", "end": 640, "referenceAllele": "A", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000700264.1:c.608A>G" ], "proteinEffect": { "hgvs": "ENSP00000514900.1:p.Asp203Gly", "hgvsWellDefined": "ENSP00000514900.1:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS911091" }, { "coordinates": [ { "allele": "G", "end": 1046, "referenceAllele": "A", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000378617.4:c.608A>G" ], "proteinEffect": { "hgvs": "ENSP00000367880.3:p.Asp203Gly", "hgvsWellDefined": "ENSP00000367880.3:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS752111", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378617.4:c.608A>G" }, "RefSeq": { "hgvs": "NM_032634.4:c.608A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367880.3:p.Asp203Gly" }, "RefSeq": { "hgvs": "NP_116023.2:p.Asp203Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 773, "referenceAllele": "A", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000298004.9:c.608A>G" ], "proteinEffect": { "hgvs": "ENSP00000298004.5:p.Asp203Gly", "hgvsWellDefined": "ENSP00000298004.5:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS254540" }, { "coordinates": [ { "allele": "G", "end": 650, "referenceAllele": "A", "start": 649 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000361778.6:c.608A>G" ], "proteinEffect": { "hgvs": "ENSP00000354678.2:p.Asp203Gly", "hgvsWellDefined": "ENSP00000354678.2:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS265650" }, { "coordinates": [ { "allele": "G", "end": 1003, "referenceAllele": "A", "start": 1002 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000378617.3:c.608A>G" ], "proteinEffect": { "hgvs": "ENSP00000367880.3:p.Asp203Gly", "hgvsWellDefined": "ENSP00000367880.3:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS272119" }, { "coordinates": [ { "allele": "G", "end": 625, "referenceAllele": "A", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000465745.6:n.625A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS309284" }, { "coordinates": [ { "allele": "G", "end": 709, "referenceAllele": "A", "start": 708 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000472208.1:n.709A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS314241" }, { "coordinates": [ { "allele": "G", "end": 1593, "referenceAllele": "A", "start": 1592 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "ENST00000474436.1:n.1593A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS315960" }, { "coordinates": [ { "allele": "G", "end": 1102, "referenceAllele": "A", "start": 1101 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "NM_001201484.1:c.608A>G" ], "proteinEffect": { "hgvs": "NP_001188413.1:p.Asp203Gly", "hgvsWellDefined": "NP_001188413.1:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS017358" }, { "coordinates": [ { "allele": "G", "end": 1004, "referenceAllele": "A", "start": 1003 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "NM_032634.3:c.608A>G" ], "proteinEffect": { "hgvs": "NP_116023.2:p.Asp203Gly", "hgvsWellDefined": "NP_116023.2:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS039231" }, { "coordinates": [ { "allele": "G", "end": 650, "referenceAllele": "A", "start": 649 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "NM_152850.3:c.608A>G" ], "proteinEffect": { "hgvs": "NP_690577.2:p.Asp203Gly", "hgvsWellDefined": "NP_690577.2:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS042171" }, { "coordinates": [ { "allele": "G", "end": 629, "referenceAllele": "A", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XM_005251619.2:c.608A>G" ], "proteinEffect": { "hgvs": "XP_005251676.1:p.Asp203Gly", "hgvsWellDefined": "XP_005251676.1:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS059605" }, { "coordinates": [ { "allele": "G", "end": 632, "referenceAllele": "A", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XM_011518056.1:c.608A>G" ], "proteinEffect": { "hgvs": "XP_011516358.1:p.Asp203Gly", "hgvsWellDefined": "XP_011516358.1:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS085237" }, { "coordinates": [ { "allele": "G", "end": 629, "referenceAllele": "A", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XR_242515.1:n.629A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS116292" }, { "coordinates": [ { "allele": "G", "end": 629, "referenceAllele": "A", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XM_005251619.3:c.608A>G" ], "proteinEffect": { "hgvs": "XP_005251676.1:p.Asp203Gly", "hgvsWellDefined": "XP_005251676.1:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS533632" }, { "coordinates": [ { "allele": "G", "end": 1121, "referenceAllele": "A", "start": 1120 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XM_017015222.2:c.608A>G" ], "proteinEffect": { "hgvs": "XP_016870711.1:p.Asp203Gly", "hgvsWellDefined": "XP_016870711.1:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS567997" }, { "coordinates": [ { "allele": "G", "end": 1031, "referenceAllele": "A", "start": 1030 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XM_017015223.1:c.608A>G" ], "proteinEffect": { "hgvs": "XP_016870712.1:p.Asp203Gly", "hgvsWellDefined": "XP_016870712.1:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS567998" }, { "coordinates": [ { "allele": "G", "end": 1295, "referenceAllele": "A", "start": 1294 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XM_017015224.1:c.608A>G" ], "proteinEffect": { "hgvs": "XP_016870713.1:p.Asp203Gly", "hgvsWellDefined": "XP_016870713.1:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS567999" }, { "coordinates": [ { "allele": "G", "end": 1031, "referenceAllele": "A", "start": 1030 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XR_001746390.1:n.1031A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS594718" }, { "coordinates": [ { "allele": "G", "end": 629, "referenceAllele": "A", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XR_001746391.2:n.629A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS594719" }, { "coordinates": [ { "allele": "G", "end": 629, "referenceAllele": "A", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "XR_242515.3:n.629A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS605917" }, { "coordinates": [ { "allele": "G", "end": 1046, "referenceAllele": "A", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "NM_032634.4:c.608A>G" ], "proteinEffect": { "hgvs": "NP_116023.2:p.Asp203Gly", "hgvsWellDefined": "NP_116023.2:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS699161", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378617.4:c.608A>G" }, "RefSeq": { "hgvs": "NM_032634.4:c.608A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367880.3:p.Asp203Gly" }, "RefSeq": { "hgvs": "NP_116023.2:p.Asp203Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 1144, "referenceAllele": "A", "start": 1143 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "NM_001201484.2:c.608A>G" ], "proteinEffect": { "hgvs": "NP_001188413.1:p.Asp203Gly", "hgvsWellDefined": "NP_001188413.1:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS714068" }, { "coordinates": [ { "allele": "G", "end": 640, "referenceAllele": "A", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN023215", "geneNCBI_id": 84720, "geneSymbol": "PIGO", "hgvs": [ "NM_152850.4:c.608A>G" ], "proteinEffect": { "hgvs": "NP_690577.2:p.Asp203Gly", "hgvsWellDefined": "NP_690577.2:p.Asp203Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS729432" } ], "type": "nucleotide" }