{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA348659516", "communityStandardTitle": [ "NM_003467.3(CXCR4):c.345C>G (p.Ile115Met)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1351509[alleleid]", "alleleId": 1351509, "preferredName": "NM_003467.3(CXCR4):c.345C>G (p.Ile115Met)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1450988", "RCV": [ "RCV001993043" ], "variationId": 1450988 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.136873153G>C?assembly=hg19", "id": "chr2:g.136873153G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.136115583G>C?assembly=hg38", "id": "chr2:g.136115583G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1051557", "rs": 1051557 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-136115583-G-C?dataset=gnomad_r3", "id": "2-136115583-G-C", "variant": "2:136115583 G / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-136115583-G-C?dataset=gnomad_r4", "id": "2-136115583-G-C", "variant": "2:136115583 G / C" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 136115583, "referenceAllele": "G", "start": 136115582 } ], "hgvs": [ "NC_000002.12:g.136115583G>C", "CM000664.2:g.136115583G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 136873153, "referenceAllele": "G", "start": 136873152 } ], "hgvs": [ "NC_000002.11:g.136873153G>C", "CM000664.1:g.136873153G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "C", "end": 136589623, "referenceAllele": "G", "start": 136589622 } ], "hgvs": [ "NC_000002.10:g.136589623G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "G", "end": 7573, "referenceAllele": "C", "start": 7572 } ], "hgvs": [ "NG_011587.1:g.7573C>G", "LRG_51:g.7573C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001836" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 404, "referenceAllele": "C", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN002561", "geneNCBI_id": 7852, "geneSymbol": "CXCR4", "hgvs": [ "ENST00000696136.1:c.333C>G" ], "proteinEffect": { "hgvs": "ENSP00000512428.1:p.Ile111Met", "hgvsWellDefined": "ENSP00000512428.1:p.Ile111Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS907611" }, { "coordinates": [ { "allele": "G", "end": 936, "referenceAllele": "C", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN002561", "geneNCBI_id": 7852, "geneSymbol": "CXCR4", "hgvs": [ "ENST00000696137.1:c.300C>G" ], "proteinEffect": { "hgvs": "ENSP00000512429.1:p.Ile100Met", "hgvsWellDefined": "ENSP00000512429.1:p.Ile100Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS907612" }, { "coordinates": [ { "allele": "G", "end": 432, "referenceAllele": "C", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN002561", "geneNCBI_id": 7852, "geneSymbol": "CXCR4", "hgvs": [ "ENST00000696152.1:c.300C>G" ], "proteinEffect": { "hgvs": "ENSP00000512443.1:p.Ile100Met", "hgvsWellDefined": "ENSP00000512443.1:p.Ile100Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS907627" }, { "coordinates": [ { "allele": "G", "end": 553, "referenceAllele": "C", "start": 552 } ], "gene": "http://reg.genome.network/gene/GN002561", "geneNCBI_id": 7852, "geneSymbol": "CXCR4", "hgvs": [ "ENST00000696228.1:c.333C>G" ], "proteinEffect": { "hgvs": "ENSP00000512494.1:p.Ile111Met", "hgvsWellDefined": "ENSP00000512494.1:p.Ile111Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS907702" }, { "coordinates": [ { "allele": "G", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN002561", "geneNCBI_id": 7852, "geneSymbol": "CXCR4", "hgvs": [ "ENST00000241393.4:c.345C>G" ], "proteinEffect": { "hgvs": "ENSP00000241393.3:p.Ile115Met", "hgvsWellDefined": "ENSP00000241393.3:p.Ile115Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS741111", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000241393.4:c.345C>G" }, "RefSeq": { "hgvs": "NM_003467.3:c.345C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000241393.3:p.Ile115Met" }, "RefSeq": { "hgvs": "NP_003458.1:p.Ile115Met" } } } }, { "coordinates": [ { "allele": "G", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN002561", "geneNCBI_id": 7852, "geneSymbol": "CXCR4", "hgvs": [ "ENST00000241393.3:c.345C>G" ], "proteinEffect": { "hgvs": "ENSP00000241393.3:p.Ile115Met", "hgvsWellDefined": "ENSP00000241393.3:p.Ile115Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS249174" }, { "coordinates": [ { "allele": "G", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN002561", "geneNCBI_id": 7852, "geneSymbol": "CXCR4", "hgvs": [ "ENST00000409817.1:c.357C>G" ], "proteinEffect": { "hgvs": "ENSP00000386884.1:p.Ile119Met", "hgvsWellDefined": "ENSP00000386884.1:p.Ile119Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS281875" }, { "coordinates": [ { "allele": "G", "end": 539, "referenceAllele": "C", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN002561", "geneNCBI_id": 7852, "geneSymbol": "CXCR4", "hgvs": [ "ENST00000466288.1:n.539C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS309696" }, { "@id": "http://reg.genome.network/allele/PA2825292597", "coordinates": [ { "allele": "G", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN002561", "geneNCBI_id": 7852, "geneSymbol": "CXCR4", "hgvs": [ "NM_001008540.1:c.357C>G" ], "proteinEffect": { "hgvs": "NP_001008540.1:p.Ile119Met", "hgvsWellDefined": "NP_001008540.1:p.Ile119Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS008021" }, { "@id": "http://reg.genome.network/allele/PA2579890998", "coordinates": [ { "allele": "G", "end": 440, "referenceAllele": "C", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN002561", "geneNCBI_id": 7852, "geneSymbol": "CXCR4", "hgvs": [ "NM_003467.2:c.345C>G", "LRG_51t1:c.345C>G" ], "proteinEffect": { "hgvs": "NP_003458.1:p.Ile115Met", "hgvsWellDefined": "NP_003458.1:p.Ile115Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS028707" }, { "@id": "http://reg.genome.network/allele/PA2825292597", "coordinates": [ { "allele": "G", "end": 653, "referenceAllele": "C", "start": 652 } ], "gene": "http://reg.genome.network/gene/GN002561", "geneNCBI_id": 7852, "geneSymbol": "CXCR4", "hgvs": [ "NM_001008540.2:c.357C>G" ], "proteinEffect": { "hgvs": "NP_001008540.1:p.Ile119Met", "hgvsWellDefined": "NP_001008540.1:p.Ile119Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS510972" }, { "@id": "http://reg.genome.network/allele/PA2573204651", "coordinates": [ { "allele": "G", "end": 653, "referenceAllele": "C", "start": 652 } ], "gene": "http://reg.genome.network/gene/GN002561", "geneNCBI_id": 7852, "geneSymbol": "CXCR4", "hgvs": [ "NM_001348056.1:c.558C>G" ], "proteinEffect": { "hgvs": "NP_001334985.1:p.Ile186Met", "hgvsWellDefined": "NP_001334985.1:p.Ile186Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS517977" }, { "@id": "http://reg.genome.network/allele/PA2827426580", "coordinates": [ { "allele": "G", "end": 539, "referenceAllele": "C", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN002561", "geneNCBI_id": 7852, "geneSymbol": "CXCR4", "hgvs": [ "NM_001348059.1:c.444C>G" ], "proteinEffect": { "hgvs": "NP_001334988.1:p.Ile148Met", "hgvsWellDefined": "NP_001334988.1:p.Ile148Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS517978" }, { "@id": "http://reg.genome.network/allele/PA2827426705", "coordinates": [ { "allele": "G", "end": 448, "referenceAllele": "C", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN002561", "geneNCBI_id": 7852, "geneSymbol": "CXCR4", "hgvs": [ "NM_001348060.1:c.300C>G" ], "proteinEffect": { "hgvs": "NP_001334989.1:p.Ile100Met", "hgvsWellDefined": "NP_001334989.1:p.Ile100Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS517979" }, { "@id": "http://reg.genome.network/allele/PA2573204651", "coordinates": [ { "allele": "G", "end": 647, "referenceAllele": "C", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN002561", "geneNCBI_id": 7852, "geneSymbol": "CXCR4", "hgvs": [ "NM_001348056.2:c.558C>G" ], "proteinEffect": { "hgvs": "NP_001334985.1:p.Ile186Met", "hgvsWellDefined": "NP_001334985.1:p.Ile186Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS687561" }, { "@id": "http://reg.genome.network/allele/PA2827426580", "coordinates": [ { "allele": "G", "end": 533, "referenceAllele": "C", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN002561", "geneNCBI_id": 7852, "geneSymbol": "CXCR4", "hgvs": [ "NM_001348059.2:c.444C>G" ], "proteinEffect": { "hgvs": "NP_001334988.1:p.Ile148Met", "hgvsWellDefined": "NP_001334988.1:p.Ile148Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS687562" }, { "@id": "http://reg.genome.network/allele/PA2827426705", "coordinates": [ { "allele": "G", "end": 671, "referenceAllele": "C", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN002561", "geneNCBI_id": 7852, "geneSymbol": "CXCR4", "hgvs": [ "NM_001348060.2:c.300C>G" ], "proteinEffect": { "hgvs": "NP_001334989.1:p.Ile100Met", "hgvsWellDefined": "NP_001334989.1:p.Ile100Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS687563" }, { "@id": "http://reg.genome.network/allele/PA2579890998", "coordinates": [ { "allele": "G", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN002561", "geneNCBI_id": 7852, "geneSymbol": "CXCR4", "hgvs": [ "NM_003467.3:c.345C>G" ], "proteinEffect": { "hgvs": "NP_003458.1:p.Ile115Met", "hgvsWellDefined": "NP_003458.1:p.Ile115Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS695840", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000241393.4:c.345C>G" }, "RefSeq": { "hgvs": "NM_003467.3:c.345C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000241393.3:p.Ile115Met" }, "RefSeq": { "hgvs": "NP_003458.1:p.Ile115Met" } } } } ], "type": "nucleotide" }