{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA119589", "communityStandardTitle": [ "NM_004082.5(DCTN1):c.3302G>A (p.Arg1101Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23444[alleleid]", "alleleId": 23444, "preferredName": "NM_004082.5(DCTN1):c.3302G>A (p.Arg1101Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8405", "RCV": [ "RCV000008913", "RCV001202903", "RCV002453250", "RCV003447082" ], "variationId": 8405 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-74590464-C-T", "id": "2-74590464-C-T", "variant": "2:74590464 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.74590464C>T?assembly=hg19", "id": "chr2:g.74590464C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.74363337C>T?assembly=hg38", "id": "chr2:g.74363337C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121909345", "rs": 121909345 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-74590464-C-T?dataset=gnomad_r2_1", "id": "2-74590464-C-T", "variant": "2:74590464 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-74363337-C-T?dataset=gnomad_r3", "id": "2-74363337-C-T", "variant": "2:74363337 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-74363337-C-T?dataset=gnomad_r4", "id": "2-74363337-C-T", "variant": "2:74363337 C / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 74363337, "referenceAllele": "C", "start": 74363336 } ], "hgvs": [ "NC_000002.12:g.74363337C>T", "CM000664.2:g.74363337C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 74590464, "referenceAllele": "C", "start": 74590463 } ], "hgvs": [ "NC_000002.11:g.74590464C>T", "CM000664.1:g.74590464C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 74443972, "referenceAllele": "C", "start": 74443971 } ], "hgvs": [ "NC_000002.10:g.74443972C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 33751, "referenceAllele": "G", "start": 33750 } ], "hgvs": [ "NG_008735.2:g.33751G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001193" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3605, "referenceAllele": "G", "start": 3604 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "ENST00000361874.8:c.3287G>A" ], "proteinEffect": { "hgvs": "ENSP00000354791.4:p.Arg1096Lys", "hgvsWellDefined": "ENSP00000354791.4:p.Arg1096Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS749556" }, { "coordinates": [ { "allele": "A", "end": 3576, "referenceAllele": "G", "start": 3575 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "ENST00000628224.3:c.3302G>A" ], "proteinEffect": { "hgvs": "ENSP00000487279.2:p.Arg1101Lys", "hgvsWellDefined": "ENSP00000487279.2:p.Arg1101Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS762505", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000628224.3:c.3302G>A" }, "RefSeq": { "hgvs": "NM_004082.5:c.3302G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000487279.2:p.Arg1101Lys" }, "RefSeq": { "hgvs": "NP_004073.2:p.Arg1101Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 3342, "referenceAllele": "G", "start": 3341 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "ENST00000680606.1:c.3251G>A" ], "proteinEffect": { "hgvs": "ENSP00000505612.1:p.Arg1084Lys", "hgvsWellDefined": "ENSP00000505612.1:p.Arg1084Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS780221" }, { "coordinates": [ { "allele": "A", "end": 3620, "referenceAllele": "G", "start": 3619 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "ENST00000361874.7:c.3302G>A" ], "proteinEffect": { "hgvs": "ENSP00000354791.3:p.Arg1101Lys", "hgvsWellDefined": "ENSP00000354791.3:p.Arg1101Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS265691" }, { "coordinates": [ { "allele": "A", "end": 3599, "referenceAllele": "G", "start": 3598 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "ENST00000394003.7:c.3281G>A" ], "proteinEffect": { "hgvs": "ENSP00000377571.3:p.Arg1094Lys", "hgvsWellDefined": "ENSP00000377571.3:p.Arg1094Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS275927" }, { "coordinates": [ { "allele": "A", "end": 3488, "referenceAllele": "G", "start": 3487 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "ENST00000409240.5:c.3176G>A" ], "proteinEffect": { "hgvs": "ENSP00000386406.1:p.Arg1059Lys", "hgvsWellDefined": "ENSP00000386406.1:p.Arg1059Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS281378" }, { "coordinates": [ { "allele": "A", "end": 3268, "referenceAllele": "G", "start": 3267 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "ENST00000409438.5:c.2885G>A" ], "proteinEffect": { "hgvs": "ENSP00000387270.1:p.Arg962Lys", "hgvsWellDefined": "ENSP00000387270.1:p.Arg962Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS281548" }, { "coordinates": [ { "allele": "A", "end": 3489, "referenceAllele": "G", "start": 3488 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "ENST00000409567.7:c.3227G>A" ], "proteinEffect": { "hgvs": "ENSP00000386843.3:p.Arg1076Lys", "hgvsWellDefined": "ENSP00000386843.3:p.Arg1076Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS281662" }, { "coordinates": [ { "allele": "A", "end": 3326, "referenceAllele": "G", "start": 3325 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "ENST00000409868.5:c.3236G>A" ], "proteinEffect": { "hgvs": "ENSP00000387327.1:p.Arg1079Lys", "hgvsWellDefined": "ENSP00000387327.1:p.Arg1079Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS281917" }, { "coordinates": [ { "allele": "A", "end": 3351, "referenceAllele": "G", "start": 3350 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "ENST00000434055.5:c.*586G>A" ], "proteinEffect": { "hgvs": "ENSP00000416711.1:n.*586G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS292854" }, { "coordinates": [ { "allele": "A", "end": 41, "referenceAllele": "G", "start": 40 } ], "hgvs": [ "ENST00000451608.2:c.41G>A" ], "proteinEffect": { "hgvs": "ENSP00000416453.2:p.Arg14Lys", "hgvsWellDefined": "ENSP00000416453.2:p.Arg14Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS301250" }, { "coordinates": [ { "allele": "A", "end": 4539, "referenceAllele": "G", "start": 4538 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "ENST00000466110.5:n.4539G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS309562" }, { "coordinates": [ { "allele": "A", "end": 1565, "referenceAllele": "G", "start": 1564 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "ENST00000491465.5:n.1565G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS329061" }, { "coordinates": [ { "allele": "A", "end": 96, "endIntronDirection": "-", "endIntronOffset": 1799, "referenceAllele": "G", "start": 96, "startIntronDirection": "-", "startIntronOffset": 1800 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "ENST00000497666.1:n.97-1800G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS333848" }, { "coordinates": [ { "allele": "A", "end": 3605, "referenceAllele": "G", "start": 3604 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "ENST00000628224.2:c.3236G>A" ], "proteinEffect": { "hgvs": "ENSP00000487279.1:p.Arg1079Lys", "hgvsWellDefined": "ENSP00000487279.1:p.Arg1079Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS407011" }, { "coordinates": [ { "allele": "A", "end": 3283, "referenceAllele": "G", "start": 3282 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "ENST00000633691.1:c.2900G>A" ], "proteinEffect": { "hgvs": "ENSP00000487724.1:p.Arg967Lys", "hgvsWellDefined": "ENSP00000487724.1:p.Arg967Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS407693" }, { "@id": "http://reg.genome.network/allele/PA2825787102", "coordinates": [ { "allele": "A", "end": 3545, "referenceAllele": "G", "start": 3544 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "NM_001135040.2:c.3227G>A" ], "proteinEffect": { "hgvs": "NP_001128512.1:p.Arg1076Lys", "hgvsWellDefined": "NP_001128512.1:p.Arg1076Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS012335" }, { "@id": "http://reg.genome.network/allele/PA2825787891", "coordinates": [ { "allele": "A", "end": 3268, "referenceAllele": "G", "start": 3267 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "NM_001135041.2:c.2885G>A" ], "proteinEffect": { "hgvs": "NP_001128513.1:p.Arg962Lys", "hgvsWellDefined": "NP_001128513.1:p.Arg962Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS012336" }, { "@id": "http://reg.genome.network/allele/PA2826166942", "coordinates": [ { "allele": "A", "end": 3488, "referenceAllele": "G", "start": 3487 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "NM_001190836.1:c.3176G>A" ], "proteinEffect": { "hgvs": "NP_001177765.1:p.Arg1059Lys", "hgvsWellDefined": "NP_001177765.1:p.Arg1059Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS016239" }, { "@id": "http://reg.genome.network/allele/PA2826167826", "coordinates": [ { "allele": "A", "end": 3599, "referenceAllele": "G", "start": 3598 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "NM_001190837.1:c.3281G>A" ], "proteinEffect": { "hgvs": "NP_001177766.1:p.Arg1094Lys", "hgvsWellDefined": "NP_001177766.1:p.Arg1094Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS016240" }, { "@id": "http://reg.genome.network/allele/PA113555", "coordinates": [ { "allele": "A", "end": 3620, "referenceAllele": "G", "start": 3619 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "NM_004082.4:c.3302G>A" ], "proteinEffect": { "hgvs": "NP_004073.2:p.Arg1101Lys", "hgvsWellDefined": "NP_004073.2:p.Arg1101Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS029272" }, { "@id": "http://reg.genome.network/allele/PA645446610", "coordinates": [ { "allele": "A", "end": 3283, "referenceAllele": "G", "start": 3282 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "NM_023019.3:c.2900G>A" ], "proteinEffect": { "hgvs": "NP_075408.1:p.Arg967Lys", "hgvsWellDefined": "NP_075408.1:p.Arg967Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS037543" }, { "coordinates": [ { "allele": "A", "end": 3571, "referenceAllele": "G", "start": 3570 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "NR_033935.1:n.3571G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS049255" }, { "@id": "http://reg.genome.network/allele/PA2825787102", "coordinates": [ { "allele": "A", "end": 3501, "referenceAllele": "G", "start": 3500 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "NM_001135040.3:c.3227G>A" ], "proteinEffect": { "hgvs": "NP_001128512.1:p.Arg1076Lys", "hgvsWellDefined": "NP_001128512.1:p.Arg1076Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS712413" }, { "@id": "http://reg.genome.network/allele/PA2825787891", "coordinates": [ { "allele": "A", "end": 3200, "referenceAllele": "G", "start": 3199 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "NM_001135041.3:c.2885G>A" ], "proteinEffect": { "hgvs": "NP_001128513.1:p.Arg962Lys", "hgvsWellDefined": "NP_001128513.1:p.Arg962Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS712414" }, { "@id": "http://reg.genome.network/allele/PA2826166942", "coordinates": [ { "allele": "A", "end": 3267, "referenceAllele": "G", "start": 3266 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "NM_001190836.2:c.3176G>A" ], "proteinEffect": { "hgvs": "NP_001177765.1:p.Arg1059Lys", "hgvsWellDefined": "NP_001177765.1:p.Arg1059Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS713687" }, { "@id": "http://reg.genome.network/allele/PA2826167826", "coordinates": [ { "allele": "A", "end": 3555, "referenceAllele": "G", "start": 3554 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "NM_001190837.2:c.3281G>A" ], "proteinEffect": { "hgvs": "NP_001177766.1:p.Arg1094Lys", "hgvsWellDefined": "NP_001177766.1:p.Arg1094Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS713688" }, { "@id": "http://reg.genome.network/allele/PA2828802924", "coordinates": [ { "allele": "A", "end": 3342, "referenceAllele": "G", "start": 3341 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "NM_001378991.1:c.3251G>A" ], "proteinEffect": { "hgvs": "NP_001365920.1:p.Arg1084Lys", "hgvsWellDefined": "NP_001365920.1:p.Arg1084Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721879" }, { "@id": "http://reg.genome.network/allele/PA2828803774", "coordinates": [ { "allele": "A", "end": 3324, "referenceAllele": "G", "start": 3323 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "NM_001378992.1:c.3233G>A" ], "proteinEffect": { "hgvs": "NP_001365921.1:p.Arg1078Lys", "hgvsWellDefined": "NP_001365921.1:p.Arg1078Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS721880" }, { "@id": "http://reg.genome.network/allele/PA113555", "coordinates": [ { "allele": "A", "end": 3576, "referenceAllele": "G", "start": 3575 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "NM_004082.5:c.3302G>A" ], "proteinEffect": { "hgvs": "NP_004073.2:p.Arg1101Lys", "hgvsWellDefined": "NP_004073.2:p.Arg1101Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS727474", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000628224.3:c.3302G>A" }, "RefSeq": { "hgvs": "NM_004082.5:c.3302G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000487279.2:p.Arg1101Lys" }, "RefSeq": { "hgvs": "NP_004073.2:p.Arg1101Lys" } } } }, { "@id": "http://reg.genome.network/allele/PA645446610", "coordinates": [ { "allele": "A", "end": 3215, "referenceAllele": "G", "start": 3214 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "NM_023019.4:c.2900G>A" ], "proteinEffect": { "hgvs": "NP_075408.1:p.Arg967Lys", "hgvsWellDefined": "NP_075408.1:p.Arg967Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS728616" }, { "coordinates": [ { "allele": "A", "end": 3350, "referenceAllele": "G", "start": 3349 } ], "gene": "http://reg.genome.network/gene/GN002711", "geneNCBI_id": 1639, "geneSymbol": "DCTN1", "hgvs": [ "NR_033935.2:n.3350G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS730307" } ], "type": "nucleotide" }