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Links from Protein

Items: 1 to 20 of 957

1.

rs1490785367 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    1:156646876 (GRCh38)
    1:156616668 (GRCh37)
    Canonical SPDI:
    NC_000001.11:156646875:C:T
    Gene:
    BCAN (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    T=0.000008/2 (GnomAD_exomes)
    HGVS:
    3.

    rs1489765571 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      1:156659032 (GRCh38)
      1:156628824 (GRCh37)
      Canonical SPDI:
      NC_000001.11:156659031:A:G
      Gene:
      BCAN (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
      Validated:
      by frequency,by cluster
      MAF:
      G=0.000005/1 (GnomAD_exomes)
      HGVS:
      4.

      rs1489475879 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        1:156652312 (GRCh38)
        1:156622104 (GRCh37)
        Canonical SPDI:
        NC_000001.11:156652311:G:A
        Gene:
        BCAN (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        A=0.000012/3 (GnomAD_exomes)
        HGVS:
        5.

        rs1489132954 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          1:156651573 (GRCh38)
          1:156621365 (GRCh37)
          Canonical SPDI:
          NC_000001.11:156651572:A:G
          Gene:
          BCAN (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0.000071/1 (ALFA)
          G=0.000008/2 (GnomAD_exomes)
          G=0.000011/3 (TOPMED)
          HGVS:
          6.

          rs1488865406 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:156659082 (GRCh38)
            1:156628874 (GRCh37)
            Canonical SPDI:
            NC_000001.11:156659081:G:A
            Gene:
            BCAN (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
            HGVS:
            7.

            rs1486989164 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              1:156647111 (GRCh38)
              1:156616903 (GRCh37)
              Canonical SPDI:
              NC_000001.11:156647110:C:A
              Gene:
              BCAN (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              8.

              rs1486946853 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,G,T [Show Flanks]
                Chromosome:
                1:156648751 (GRCh38)
                1:156618543 (GRCh37)
                Canonical SPDI:
                NC_000001.11:156648750:C:A,NC_000001.11:156648750:C:G,NC_000001.11:156648750:C:T
                Gene:
                BCAN (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                G=0.000008/2 (TOPMED)
                A=0.000035/1 (TOMMO)
                HGVS:
                NC_000001.11:g.156648751C>A, NC_000001.11:g.156648751C>G, NC_000001.11:g.156648751C>T, NC_000001.10:g.156618543C>A, NC_000001.10:g.156618543C>G, NC_000001.10:g.156618543C>T, NG_030013.1:g.11804C>A, NG_030013.1:g.11804C>G, NG_030013.1:g.11804C>T, NM_021948.5:c.953C>A, NM_021948.5:c.953C>G, NM_021948.5:c.953C>T, NM_021948.4:c.953C>A, NM_021948.4:c.953C>G, NM_021948.4:c.953C>T, NM_198427.2:c.953C>A, NM_198427.2:c.953C>G, NM_198427.2:c.953C>T, NM_198427.1:c.953C>A, NM_198427.1:c.953C>G, NM_198427.1:c.953C>T, NW_025791758.1:g.207310C>A, NW_025791758.1:g.207310C>G, NW_025791758.1:g.207310C>T, XM_017002047.2:c.1088C>A, XM_017002047.2:c.1088C>G, XM_017002047.2:c.1088C>T, XM_017002047.1:c.1088C>A, XM_017002047.1:c.1088C>G, XM_017002047.1:c.1088C>T, XM_011509866.1:c.953C>A, XM_011509866.1:c.953C>G, XM_011509866.1:c.953C>T, NP_068767.3:p.Pro318His, NP_068767.3:p.Pro318Arg, NP_068767.3:p.Pro318Leu, NP_940819.1:p.Pro318His, NP_940819.1:p.Pro318Arg, NP_940819.1:p.Pro318Leu, XP_016857536.1:p.Pro363His, XP_016857536.1:p.Pro363Arg, XP_016857536.1:p.Pro363Leu, XP_011508168.1:p.Pro318His, XP_011508168.1:p.Pro318Arg, XP_011508168.1:p.Pro318Leu
                10.

                rs1484216376 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  1:156651491 (GRCh38)
                  1:156621283 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:156651490:A:C
                  Gene:
                  BCAN (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  12.

                  rs1482474507 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    1:156646113 (GRCh38)
                    1:156615905 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:156646112:C:G
                    Gene:
                    BCAN (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    13.

                    rs1481115577 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      1:156652511 (GRCh38)
                      1:156622303 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:156652510:C:T
                      Gene:
                      BCAN (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0.000071/1 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      16.

                      rs1477501089 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        1:156652561 (GRCh38)
                        1:156622353 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:156652560:A:G
                        Gene:
                        BCAN (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        G=0.000546/1 (Korea1K)
                        HGVS:
                        17.

                        rs1477237282 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          1:156659041 (GRCh38)
                          1:156628833 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:156659040:C:A
                          Gene:
                          BCAN (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          19.

                          rs1476347575 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            1:156657038 (GRCh38)
                            1:156626830 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:156657037:G:A
                            Gene:
                            BCAN (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            20.

                            rs1471898163 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              1:156652486 (GRCh38)
                              1:156622278 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:156652485:G:A
                              Gene:
                              BCAN (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              HGVS:

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