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Links from Protein

Items: 1 to 20 of 163

1.

rs1487853019 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->TA [Show Flanks]
    Chromosome:
    11:31463230 (GRCh38)
    11:31484778 (GRCh37)
    Canonical SPDI:
    NC_000011.10:31463230:TATA:TATATA
    Gene:
    IMMP1L (Varview)
    Functional Consequence:
    frameshift_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
    Validated:
    by frequency
    MAF:
    TA=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000011.10:g.31463231TA[3], NC_000011.9:g.31484778TA[3], XM_005252812.4:c.45_46dup, XM_005252812.3:c.45_46dup, XM_005252812.2:c.45_46dup, XM_005252812.1:c.45_46dup, XR_242781.4:n.176TA[3], XR_242781.3:n.198TA[3], XR_242781.2:n.186TA[3], XR_242781.1:n.172TA[3], XM_011519943.3:c.45_46dup, XM_011519943.2:c.45_46dup, XM_011519943.1:c.45_46dup, XM_011519946.3:c.45_46dup, XM_011519946.2:c.45_46dup, XM_011519946.1:c.45_46dup, NM_144981.3:c.45_46dup, NM_144981.2:c.45_46dup, NM_144981.1:c.45_46dup, XM_011519945.3:c.45_46dup, XM_011519945.2:c.45_46dup, XM_011519945.1:c.45_46dup, XM_011519947.3:c.45_46dup, XM_011519947.2:c.45_46dup, XM_011519947.1:c.45_46dup, XM_011519942.2:c.45_46dup, XM_011519942.1:c.45_46dup, XM_017017305.2:c.45_46dup, XM_017017305.1:c.45_46dup, NM_001304274.2:c.45_46dup, NM_001304274.1:c.45_46dup, XM_047426520.1:c.45_46dup, XM_047426521.1:c.45_46dup, XP_005252869.1:p.Thr16fs, XP_011518245.1:p.Thr16fs, XP_011518248.1:p.Thr16fs, NP_659418.1:p.Thr16fs, XP_011518247.1:p.Thr16fs, XP_011518249.1:p.Thr16fs, XP_011518244.1:p.Thr16fs, XP_016872794.1:p.Thr16fs, NP_001291203.1:p.Thr16fs, XP_047282476.1:p.Thr16fs, XP_047282477.1:p.Thr16fs

    2.

    rs1480839716 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      11:31432555 (GRCh38)
      11:31454102 (GRCh37)
      Canonical SPDI:
      NC_000011.10:31432554:C:T
      Gene:
      DNAJC24 (Varview), IMMP1L (Varview)
      Functional Consequence:
      3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000011.10:g.31432555C>T, NC_000011.9:g.31454102C>T, NM_181706.5:c.*2154C>T, NM_181706.4:c.*2154C>T, XM_005252812.4:c.446G>A, XM_005252812.3:c.446G>A, XM_005252812.2:c.446G>A, XM_005252812.1:c.446G>A, XM_011519943.3:c.446G>A, XM_011519943.2:c.446G>A, XM_011519943.1:c.446G>A, XM_011519946.3:c.446G>A, XM_011519946.2:c.446G>A, XM_011519946.1:c.446G>A, NM_144981.3:c.446G>A, NM_144981.2:c.446G>A, NM_144981.1:c.446G>A, XM_011519945.3:c.446G>A, XM_011519945.2:c.446G>A, XM_011519945.1:c.446G>A, XM_011519947.3:c.446G>A, XM_011519947.2:c.446G>A, XM_011519947.1:c.446G>A, XM_011519942.2:c.446G>A, XM_011519942.1:c.446G>A, XM_017017305.2:c.446G>A, XM_017017305.1:c.446G>A, NM_001304274.2:c.446G>A, NM_001304274.1:c.446G>A, XM_017017306.2:c.338G>A, XM_017017306.1:c.338G>A, XM_047426520.1:c.446G>A, XM_047426521.1:c.446G>A, XP_005252869.1:p.Ser149Asn, XP_011518245.1:p.Ser149Asn, XP_011518248.1:p.Ser149Asn, NP_659418.1:p.Ser149Asn, XP_011518247.1:p.Ser149Asn, XP_011518249.1:p.Ser149Asn, XP_011518244.1:p.Ser149Asn, XP_016872794.1:p.Ser149Asn, NP_001291203.1:p.Ser149Asn, XP_016872795.1:p.Ser113Asn, XP_047282476.1:p.Ser149Asn, XP_047282477.1:p.Ser149Asn

      3.

      rs1477420576 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        11:31463188 (GRCh38)
        11:31484735 (GRCh37)
        Canonical SPDI:
        NC_000011.10:31463187:A:C
        Gene:
        IMMP1L (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0.000111/1 (ALFA)
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000011.10:g.31463188A>C, NC_000011.9:g.31484735A>C, XM_005252812.4:c.89T>G, XM_005252812.3:c.89T>G, XM_005252812.2:c.89T>G, XM_005252812.1:c.89T>G, XR_242781.4:n.222T>G, XR_242781.3:n.244T>G, XR_242781.2:n.232T>G, XR_242781.1:n.218T>G, XM_011519943.3:c.89T>G, XM_011519943.2:c.89T>G, XM_011519943.1:c.89T>G, XM_011519946.3:c.89T>G, XM_011519946.2:c.89T>G, XM_011519946.1:c.89T>G, NM_144981.3:c.89T>G, NM_144981.2:c.89T>G, NM_144981.1:c.89T>G, XM_011519945.3:c.89T>G, XM_011519945.2:c.89T>G, XM_011519945.1:c.89T>G, XM_011519947.3:c.89T>G, XM_011519947.2:c.89T>G, XM_011519947.1:c.89T>G, XM_011519942.2:c.89T>G, XM_011519942.1:c.89T>G, XM_017017305.2:c.89T>G, XM_017017305.1:c.89T>G, NM_001304274.2:c.89T>G, NM_001304274.1:c.89T>G, XM_047426520.1:c.89T>G, XM_047426521.1:c.89T>G, XP_005252869.1:p.Val30Gly, XP_011518245.1:p.Val30Gly, XP_011518248.1:p.Val30Gly, NP_659418.1:p.Val30Gly, XP_011518247.1:p.Val30Gly, XP_011518249.1:p.Val30Gly, XP_011518244.1:p.Val30Gly, XP_016872794.1:p.Val30Gly, NP_001291203.1:p.Val30Gly, XP_047282476.1:p.Val30Gly, XP_047282477.1:p.Val30Gly

        4.

        rs1475461249 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          11:31433570 (GRCh38)
          11:31455117 (GRCh37)
          Canonical SPDI:
          NC_000011.10:31433569:C:T
          Gene:
          IMMP1L (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000011.10:g.31433570C>T, NC_000011.9:g.31455117C>T, XM_005252812.4:c.322G>A, XM_005252812.3:c.322G>A, XM_005252812.2:c.322G>A, XM_005252812.1:c.322G>A, XR_242781.4:n.603G>A, XR_242781.3:n.625G>A, XR_242781.2:n.613G>A, XR_242781.1:n.599G>A, XM_011519943.3:c.322G>A, XM_011519943.2:c.322G>A, XM_011519943.1:c.322G>A, XM_011519946.3:c.322G>A, XM_011519946.2:c.322G>A, XM_011519946.1:c.322G>A, NM_144981.3:c.322G>A, NM_144981.2:c.322G>A, NM_144981.1:c.322G>A, XM_011519945.3:c.322G>A, XM_011519945.2:c.322G>A, XM_011519945.1:c.322G>A, XM_011519947.3:c.322G>A, XM_011519947.2:c.322G>A, XM_011519947.1:c.322G>A, XM_011519942.2:c.322G>A, XM_011519942.1:c.322G>A, XM_017017305.2:c.322G>A, XM_017017305.1:c.322G>A, NM_001304274.2:c.322G>A, NM_001304274.1:c.322G>A, XM_017017306.2:c.214G>A, XM_017017306.1:c.214G>A, XM_047426520.1:c.322G>A, XM_047426521.1:c.322G>A, XP_005252869.1:p.Val108Met, XP_011518245.1:p.Val108Met, XP_011518248.1:p.Val108Met, NP_659418.1:p.Val108Met, XP_011518247.1:p.Val108Met, XP_011518249.1:p.Val108Met, XP_011518244.1:p.Val108Met, XP_016872794.1:p.Val108Met, NP_001291203.1:p.Val108Met, XP_016872795.1:p.Val72Met, XP_047282476.1:p.Val108Met, XP_047282477.1:p.Val108Met

          5.

          rs1474432159 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            11:31432506 (GRCh38)
            11:31454053 (GRCh37)
            Canonical SPDI:
            NC_000011.10:31432505:A:C
            Gene:
            DNAJC24 (Varview), IMMP1L (Varview)
            Functional Consequence:
            3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            C=0.000004/1 (TOPMED)
            HGVS:
            NC_000011.10:g.31432506A>C, NC_000011.9:g.31454053A>C, NM_181706.5:c.*2105A>C, NM_181706.4:c.*2105A>C, XM_005252812.4:c.495T>G, XM_005252812.3:c.495T>G, XM_005252812.2:c.495T>G, XM_005252812.1:c.495T>G, XM_011519943.3:c.495T>G, XM_011519943.2:c.495T>G, XM_011519943.1:c.495T>G, XM_011519946.3:c.495T>G, XM_011519946.2:c.495T>G, XM_011519946.1:c.495T>G, NM_144981.3:c.495T>G, NM_144981.2:c.495T>G, NM_144981.1:c.495T>G, XM_011519945.3:c.495T>G, XM_011519945.2:c.495T>G, XM_011519945.1:c.495T>G, XM_011519947.3:c.495T>G, XM_011519947.2:c.495T>G, XM_011519947.1:c.495T>G, XM_011519942.2:c.495T>G, XM_011519942.1:c.495T>G, XM_017017305.2:c.495T>G, XM_017017305.1:c.495T>G, NM_001304274.2:c.495T>G, NM_001304274.1:c.495T>G, XM_017017306.2:c.387T>G, XM_017017306.1:c.387T>G, XM_047426520.1:c.495T>G, XM_047426521.1:c.495T>G, XP_005252869.1:p.Asp165Glu, XP_011518245.1:p.Asp165Glu, XP_011518248.1:p.Asp165Glu, NP_659418.1:p.Asp165Glu, XP_011518247.1:p.Asp165Glu, XP_011518249.1:p.Asp165Glu, XP_011518244.1:p.Asp165Glu, XP_016872794.1:p.Asp165Glu, NP_001291203.1:p.Asp165Glu, XP_016872795.1:p.Asp129Glu, XP_047282476.1:p.Asp165Glu, XP_047282477.1:p.Asp165Glu

            6.

            rs1470174057 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              11:31432521 (GRCh38)
              11:31454068 (GRCh37)
              Canonical SPDI:
              NC_000011.10:31432520:G:A
              Gene:
              DNAJC24 (Varview), IMMP1L (Varview)
              Functional Consequence:
              3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
              Validated:
              by frequency
              MAF:
              A=0.000012/3 (GnomAD_exomes)
              HGVS:
              NC_000011.10:g.31432521G>A, NC_000011.9:g.31454068G>A, NM_181706.5:c.*2120G>A, NM_181706.4:c.*2120G>A, XM_005252812.4:c.480C>T, XM_005252812.3:c.480C>T, XM_005252812.2:c.480C>T, XM_005252812.1:c.480C>T, XM_011519943.3:c.480C>T, XM_011519943.2:c.480C>T, XM_011519943.1:c.480C>T, XM_011519946.3:c.480C>T, XM_011519946.2:c.480C>T, XM_011519946.1:c.480C>T, NM_144981.3:c.480C>T, NM_144981.2:c.480C>T, NM_144981.1:c.480C>T, XM_011519945.3:c.480C>T, XM_011519945.2:c.480C>T, XM_011519945.1:c.480C>T, XM_011519947.3:c.480C>T, XM_011519947.2:c.480C>T, XM_011519947.1:c.480C>T, XM_011519942.2:c.480C>T, XM_011519942.1:c.480C>T, XM_017017305.2:c.480C>T, XM_017017305.1:c.480C>T, NM_001304274.2:c.480C>T, NM_001304274.1:c.480C>T, XM_017017306.2:c.372C>T, XM_017017306.1:c.372C>T, XM_047426520.1:c.480C>T, XM_047426521.1:c.480C>T

              7.

              rs1468116156 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                11:31456306 (GRCh38)
                11:31477853 (GRCh37)
                Canonical SPDI:
                NC_000011.10:31456305:T:C
                Gene:
                IMMP1L (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000011.10:g.31456306T>C, NC_000011.9:g.31477853T>C, XM_005252812.4:c.275A>G, XM_005252812.3:c.275A>G, XM_005252812.2:c.275A>G, XM_005252812.1:c.275A>G, XR_242781.4:n.408A>G, XR_242781.3:n.430A>G, XR_242781.2:n.418A>G, XR_242781.1:n.404A>G, XM_011519943.3:c.275A>G, XM_011519943.2:c.275A>G, XM_011519943.1:c.275A>G, XM_011519946.3:c.275A>G, XM_011519946.2:c.275A>G, XM_011519946.1:c.275A>G, NM_144981.3:c.275A>G, NM_144981.2:c.275A>G, NM_144981.1:c.275A>G, XM_011519945.3:c.275A>G, XM_011519945.2:c.275A>G, XM_011519945.1:c.275A>G, XM_011519947.3:c.275A>G, XM_011519947.2:c.275A>G, XM_011519947.1:c.275A>G, XM_011519942.2:c.275A>G, XM_011519942.1:c.275A>G, XM_017017305.2:c.275A>G, XM_017017305.1:c.275A>G, NM_001304274.2:c.275A>G, NM_001304274.1:c.275A>G, XM_017017306.2:c.167A>G, XM_017017306.1:c.167A>G, XM_047426520.1:c.275A>G, XM_047426521.1:c.275A>G, XP_005252869.1:p.Lys92Arg, XP_011518245.1:p.Lys92Arg, XP_011518248.1:p.Lys92Arg, NP_659418.1:p.Lys92Arg, XP_011518247.1:p.Lys92Arg, XP_011518249.1:p.Lys92Arg, XP_011518244.1:p.Lys92Arg, XP_016872794.1:p.Lys92Arg, NP_001291203.1:p.Lys92Arg, XP_016872795.1:p.Lys56Arg, XP_047282476.1:p.Lys92Arg, XP_047282477.1:p.Lys92Arg

                8.

                rs1461319501 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  11:31433488 (GRCh38)
                  11:31455035 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:31433487:C:T
                  Gene:
                  IMMP1L (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  T=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  NC_000011.10:g.31433488C>T, NC_000011.9:g.31455035C>T, XM_005252812.4:c.404G>A, XM_005252812.3:c.404G>A, XM_005252812.2:c.404G>A, XM_005252812.1:c.404G>A, XR_242781.4:n.685G>A, XR_242781.3:n.707G>A, XR_242781.2:n.695G>A, XM_011519943.3:c.404G>A, XM_011519943.2:c.404G>A, XM_011519943.1:c.404G>A, XM_011519946.3:c.404G>A, XM_011519946.2:c.404G>A, XM_011519946.1:c.404G>A, NM_144981.3:c.404G>A, NM_144981.2:c.404G>A, NM_144981.1:c.404G>A, XM_011519945.3:c.404G>A, XM_011519945.2:c.404G>A, XM_011519945.1:c.404G>A, XM_011519947.3:c.404G>A, XM_011519947.2:c.404G>A, XM_011519947.1:c.404G>A, XM_011519942.2:c.404G>A, XM_011519942.1:c.404G>A, XM_017017305.2:c.404G>A, XM_017017305.1:c.404G>A, NM_001304274.2:c.404G>A, NM_001304274.1:c.404G>A, XM_017017306.2:c.296G>A, XM_017017306.1:c.296G>A, XM_047426520.1:c.404G>A, XM_047426521.1:c.404G>A, XP_005252869.1:p.Gly135Glu, XP_011518245.1:p.Gly135Glu, XP_011518248.1:p.Gly135Glu, NP_659418.1:p.Gly135Glu, XP_011518247.1:p.Gly135Glu, XP_011518249.1:p.Gly135Glu, XP_011518244.1:p.Gly135Glu, XP_016872794.1:p.Gly135Glu, NP_001291203.1:p.Gly135Glu, XP_016872795.1:p.Gly99Glu, XP_047282476.1:p.Gly135Glu, XP_047282477.1:p.Gly135Glu

                  9.

                  rs1443754203 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    11:31433542 (GRCh38)
                    11:31455089 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:31433541:C:T
                    Gene:
                    IMMP1L (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000011.10:g.31433542C>T, NC_000011.9:g.31455089C>T, XM_005252812.4:c.350G>A, XM_005252812.3:c.350G>A, XM_005252812.2:c.350G>A, XM_005252812.1:c.350G>A, XR_242781.4:n.631G>A, XR_242781.3:n.653G>A, XR_242781.2:n.641G>A, XR_242781.1:n.627G>A, XM_011519943.3:c.350G>A, XM_011519943.2:c.350G>A, XM_011519943.1:c.350G>A, XM_011519946.3:c.350G>A, XM_011519946.2:c.350G>A, XM_011519946.1:c.350G>A, NM_144981.3:c.350G>A, NM_144981.2:c.350G>A, NM_144981.1:c.350G>A, XM_011519945.3:c.350G>A, XM_011519945.2:c.350G>A, XM_011519945.1:c.350G>A, XM_011519947.3:c.350G>A, XM_011519947.2:c.350G>A, XM_011519947.1:c.350G>A, XM_011519942.2:c.350G>A, XM_011519942.1:c.350G>A, XM_017017305.2:c.350G>A, XM_017017305.1:c.350G>A, NM_001304274.2:c.350G>A, NM_001304274.1:c.350G>A, XM_017017306.2:c.242G>A, XM_017017306.1:c.242G>A, XM_047426520.1:c.350G>A, XM_047426521.1:c.350G>A, XP_005252869.1:p.Gly117Asp, XP_011518245.1:p.Gly117Asp, XP_011518248.1:p.Gly117Asp, NP_659418.1:p.Gly117Asp, XP_011518247.1:p.Gly117Asp, XP_011518249.1:p.Gly117Asp, XP_011518244.1:p.Gly117Asp, XP_016872794.1:p.Gly117Asp, NP_001291203.1:p.Gly117Asp, XP_016872795.1:p.Gly81Asp, XP_047282476.1:p.Gly117Asp, XP_047282477.1:p.Gly117Asp

                    10.

                    rs1436134321 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      11:31432528 (GRCh38)
                      11:31454075 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:31432527:G:A
                      Gene:
                      DNAJC24 (Varview), IMMP1L (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000011.10:g.31432528G>A, NC_000011.9:g.31454075G>A, NM_181706.5:c.*2127G>A, NM_181706.4:c.*2127G>A, XM_005252812.4:c.473C>T, XM_005252812.3:c.473C>T, XM_005252812.2:c.473C>T, XM_005252812.1:c.473C>T, XM_011519943.3:c.473C>T, XM_011519943.2:c.473C>T, XM_011519943.1:c.473C>T, XM_011519946.3:c.473C>T, XM_011519946.2:c.473C>T, XM_011519946.1:c.473C>T, NM_144981.3:c.473C>T, NM_144981.2:c.473C>T, NM_144981.1:c.473C>T, XM_011519945.3:c.473C>T, XM_011519945.2:c.473C>T, XM_011519945.1:c.473C>T, XM_011519947.3:c.473C>T, XM_011519947.2:c.473C>T, XM_011519947.1:c.473C>T, XM_011519942.2:c.473C>T, XM_011519942.1:c.473C>T, XM_017017305.2:c.473C>T, XM_017017305.1:c.473C>T, NM_001304274.2:c.473C>T, NM_001304274.1:c.473C>T, XM_017017306.2:c.365C>T, XM_017017306.1:c.365C>T, XM_047426520.1:c.473C>T, XM_047426521.1:c.473C>T, XP_005252869.1:p.Pro158Leu, XP_011518245.1:p.Pro158Leu, XP_011518248.1:p.Pro158Leu, NP_659418.1:p.Pro158Leu, XP_011518247.1:p.Pro158Leu, XP_011518249.1:p.Pro158Leu, XP_011518244.1:p.Pro158Leu, XP_016872794.1:p.Pro158Leu, NP_001291203.1:p.Pro158Leu, XP_016872795.1:p.Pro122Leu, XP_047282476.1:p.Pro158Leu, XP_047282477.1:p.Pro158Leu

                      11.

                      rs1429223266 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        11:31463178 (GRCh38)
                        11:31484725 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:31463177:A:C
                        Gene:
                        IMMP1L (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000034/9 (TOPMED)
                        HGVS:

                        12.

                        rs1413743678 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          G>- [Show Flanks]
                          Chromosome:
                          11:31463190 (GRCh38)
                          11:31484737 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:31463189:G:
                          Gene:
                          IMMP1L (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,non_coding_transcript_variant,stop_gained
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0./0 (ALFA)
                          -=0.000004/1 (TOPMED)
                          -=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000011.10:g.31463190del, NC_000011.9:g.31484737del, XM_005252812.4:c.87del, XM_005252812.3:c.87del, XM_005252812.2:c.87del, XM_005252812.1:c.87del, XR_242781.4:n.220del, XR_242781.3:n.242del, XR_242781.2:n.230del, XR_242781.1:n.216del, XM_011519943.3:c.87del, XM_011519943.2:c.87del, XM_011519943.1:c.87del, XM_011519946.3:c.87del, XM_011519946.2:c.87del, XM_011519946.1:c.87del, NM_144981.3:c.87del, NM_144981.2:c.87del, NM_144981.1:c.87del, XM_011519945.3:c.87del, XM_011519945.2:c.87del, XM_011519945.1:c.87del, XM_011519947.3:c.87del, XM_011519947.2:c.87del, XM_011519947.1:c.87del, XM_011519942.2:c.87del, XM_011519942.1:c.87del, XM_017017305.2:c.87del, XM_017017305.1:c.87del, NM_001304274.2:c.87del, NM_001304274.1:c.87del, XM_047426520.1:c.87del, XM_047426521.1:c.87del, XP_005252869.1:p.Glu28_Tyr29insTer, XP_011518245.1:p.Glu28_Tyr29insTer, XP_011518248.1:p.Glu28_Tyr29insTer, NP_659418.1:p.Glu28_Tyr29insTer, XP_011518247.1:p.Glu28_Tyr29insTer, XP_011518249.1:p.Glu28_Tyr29insTer, XP_011518244.1:p.Glu28_Tyr29insTer, XP_016872794.1:p.Glu28_Tyr29insTer, NP_001291203.1:p.Glu28_Tyr29insTer, XP_047282476.1:p.Glu28_Tyr29insTer, XP_047282477.1:p.Glu28_Tyr29insTer

                          13.

                          rs1412616687 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            11:31460693 (GRCh38)
                            11:31482240 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:31460692:G:T
                            Gene:
                            IMMP1L (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000011.10:g.31460693G>T, NC_000011.9:g.31482240G>T, XM_005252812.4:c.127C>A, XM_005252812.3:c.127C>A, XM_005252812.2:c.127C>A, XM_005252812.1:c.127C>A, XR_242781.4:n.260C>A, XR_242781.3:n.282C>A, XR_242781.2:n.270C>A, XR_242781.1:n.256C>A, XM_011519943.3:c.127C>A, XM_011519943.2:c.127C>A, XM_011519943.1:c.127C>A, XM_011519946.3:c.127C>A, XM_011519946.2:c.127C>A, XM_011519946.1:c.127C>A, NM_144981.3:c.127C>A, NM_144981.2:c.127C>A, NM_144981.1:c.127C>A, XM_011519945.3:c.127C>A, XM_011519945.2:c.127C>A, XM_011519945.1:c.127C>A, XM_011519947.3:c.127C>A, XM_011519947.2:c.127C>A, XM_011519947.1:c.127C>A, XM_011519942.2:c.127C>A, XM_011519942.1:c.127C>A, XM_017017305.2:c.127C>A, XM_017017305.1:c.127C>A, NM_001304274.2:c.127C>A, NM_001304274.1:c.127C>A, XM_047426520.1:c.127C>A, XM_047426521.1:c.127C>A, XP_005252869.1:p.Pro43Thr, XP_011518245.1:p.Pro43Thr, XP_011518248.1:p.Pro43Thr, NP_659418.1:p.Pro43Thr, XP_011518247.1:p.Pro43Thr, XP_011518249.1:p.Pro43Thr, XP_011518244.1:p.Pro43Thr, XP_016872794.1:p.Pro43Thr, NP_001291203.1:p.Pro43Thr, XP_047282476.1:p.Pro43Thr, XP_047282477.1:p.Pro43Thr

                            14.

                            rs1384072669 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              11:31433507 (GRCh38)
                              11:31455054 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:31433506:A:G
                              Gene:
                              IMMP1L (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000011.10:g.31433507A>G, NC_000011.9:g.31455054A>G, XM_005252812.4:c.385T>C, XM_005252812.3:c.385T>C, XM_005252812.2:c.385T>C, XM_005252812.1:c.385T>C, XR_242781.4:n.666T>C, XR_242781.3:n.688T>C, XR_242781.2:n.676T>C, XM_011519943.3:c.385T>C, XM_011519943.2:c.385T>C, XM_011519943.1:c.385T>C, XM_011519946.3:c.385T>C, XM_011519946.2:c.385T>C, XM_011519946.1:c.385T>C, NM_144981.3:c.385T>C, NM_144981.2:c.385T>C, NM_144981.1:c.385T>C, XM_011519945.3:c.385T>C, XM_011519945.2:c.385T>C, XM_011519945.1:c.385T>C, XM_011519947.3:c.385T>C, XM_011519947.2:c.385T>C, XM_011519947.1:c.385T>C, XM_011519942.2:c.385T>C, XM_011519942.1:c.385T>C, XM_017017305.2:c.385T>C, XM_017017305.1:c.385T>C, NM_001304274.2:c.385T>C, NM_001304274.1:c.385T>C, XM_017017306.2:c.277T>C, XM_017017306.1:c.277T>C, XM_047426520.1:c.385T>C, XM_047426521.1:c.385T>C, XP_005252869.1:p.Tyr129His, XP_011518245.1:p.Tyr129His, XP_011518248.1:p.Tyr129His, NP_659418.1:p.Tyr129His, XP_011518247.1:p.Tyr129His, XP_011518249.1:p.Tyr129His, XP_011518244.1:p.Tyr129His, XP_016872794.1:p.Tyr129His, NP_001291203.1:p.Tyr129His, XP_016872795.1:p.Tyr93His, XP_047282476.1:p.Tyr129His, XP_047282477.1:p.Tyr129His

                              15.

                              rs1381966956 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                11:31433508 (GRCh38)
                                11:31455055 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:31433507:G:A
                                Gene:
                                IMMP1L (Varview)
                                Functional Consequence:
                                coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000011.10:g.31433508G>A, NC_000011.9:g.31455055G>A, XM_005252812.4:c.384C>T, XM_005252812.3:c.384C>T, XM_005252812.2:c.384C>T, XM_005252812.1:c.384C>T, XR_242781.4:n.665C>T, XR_242781.3:n.687C>T, XR_242781.2:n.675C>T, XM_011519943.3:c.384C>T, XM_011519943.2:c.384C>T, XM_011519943.1:c.384C>T, XM_011519946.3:c.384C>T, XM_011519946.2:c.384C>T, XM_011519946.1:c.384C>T, NM_144981.3:c.384C>T, NM_144981.2:c.384C>T, NM_144981.1:c.384C>T, XM_011519945.3:c.384C>T, XM_011519945.2:c.384C>T, XM_011519945.1:c.384C>T, XM_011519947.3:c.384C>T, XM_011519947.2:c.384C>T, XM_011519947.1:c.384C>T, XM_011519942.2:c.384C>T, XM_011519942.1:c.384C>T, XM_017017305.2:c.384C>T, XM_017017305.1:c.384C>T, NM_001304274.2:c.384C>T, NM_001304274.1:c.384C>T, XM_017017306.2:c.276C>T, XM_017017306.1:c.276C>T, XM_047426520.1:c.384C>T, XM_047426521.1:c.384C>T

                                16.

                                rs1373549464 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  11:31460707 (GRCh38)
                                  11:31482254 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:31460706:C:T
                                  Gene:
                                  IMMP1L (Varview)
                                  Functional Consequence:
                                  intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000008/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000011.10:g.31460707C>T, NC_000011.9:g.31482254C>T, XM_005252812.4:c.113G>A, XM_005252812.3:c.113G>A, XM_005252812.2:c.113G>A, XM_005252812.1:c.113G>A, XR_242781.4:n.246G>A, XR_242781.3:n.268G>A, XR_242781.2:n.256G>A, XR_242781.1:n.242G>A, XM_011519943.3:c.113G>A, XM_011519943.2:c.113G>A, XM_011519943.1:c.113G>A, XM_011519946.3:c.113G>A, XM_011519946.2:c.113G>A, XM_011519946.1:c.113G>A, NM_144981.3:c.113G>A, NM_144981.2:c.113G>A, NM_144981.1:c.113G>A, XM_011519945.3:c.113G>A, XM_011519945.2:c.113G>A, XM_011519945.1:c.113G>A, XM_011519947.3:c.113G>A, XM_011519947.2:c.113G>A, XM_011519947.1:c.113G>A, XM_011519942.2:c.113G>A, XM_011519942.1:c.113G>A, XM_017017305.2:c.113G>A, XM_017017305.1:c.113G>A, NM_001304274.2:c.113G>A, NM_001304274.1:c.113G>A, XM_047426520.1:c.113G>A, XM_047426521.1:c.113G>A, XP_005252869.1:p.Gly38Glu, XP_011518245.1:p.Gly38Glu, XP_011518248.1:p.Gly38Glu, NP_659418.1:p.Gly38Glu, XP_011518247.1:p.Gly38Glu, XP_011518249.1:p.Gly38Glu, XP_011518244.1:p.Gly38Glu, XP_016872794.1:p.Gly38Glu, NP_001291203.1:p.Gly38Glu, XP_047282476.1:p.Gly38Glu, XP_047282477.1:p.Gly38Glu

                                  17.

                                  rs1373363714 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    11:31433483 (GRCh38)
                                    11:31455030 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:31433482:T:C
                                    Gene:
                                    IMMP1L (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    HGVS:
                                    NC_000011.10:g.31433483T>C, NC_000011.9:g.31455030T>C, XM_005252812.4:c.409A>G, XM_005252812.3:c.409A>G, XM_005252812.2:c.409A>G, XM_005252812.1:c.409A>G, XR_242781.4:n.690A>G, XR_242781.3:n.712A>G, XR_242781.2:n.700A>G, XM_011519943.3:c.409A>G, XM_011519943.2:c.409A>G, XM_011519943.1:c.409A>G, XM_011519946.3:c.409A>G, XM_011519946.2:c.409A>G, XM_011519946.1:c.409A>G, NM_144981.3:c.409A>G, NM_144981.2:c.409A>G, NM_144981.1:c.409A>G, XM_011519945.3:c.409A>G, XM_011519945.2:c.409A>G, XM_011519945.1:c.409A>G, XM_011519947.3:c.409A>G, XM_011519947.2:c.409A>G, XM_011519947.1:c.409A>G, XM_011519942.2:c.409A>G, XM_011519942.1:c.409A>G, XM_017017305.2:c.409A>G, XM_017017305.1:c.409A>G, NM_001304274.2:c.409A>G, NM_001304274.1:c.409A>G, XM_017017306.2:c.301A>G, XM_017017306.1:c.301A>G, XM_047426520.1:c.409A>G, XM_047426521.1:c.409A>G, XP_005252869.1:p.Ile137Val, XP_011518245.1:p.Ile137Val, XP_011518248.1:p.Ile137Val, NP_659418.1:p.Ile137Val, XP_011518247.1:p.Ile137Val, XP_011518249.1:p.Ile137Val, XP_011518244.1:p.Ile137Val, XP_016872794.1:p.Ile137Val, NP_001291203.1:p.Ile137Val, XP_016872795.1:p.Ile101Val, XP_047282476.1:p.Ile137Val, XP_047282477.1:p.Ile137Val

                                    18.

                                    rs1368889070 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      11:31433506 (GRCh38)
                                      11:31455053 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:31433505:T:C
                                      Gene:
                                      IMMP1L (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000012/3 (GnomAD_exomes)
                                      HGVS:
                                      NC_000011.10:g.31433506T>C, NC_000011.9:g.31455053T>C, XM_005252812.4:c.386A>G, XM_005252812.3:c.386A>G, XM_005252812.2:c.386A>G, XM_005252812.1:c.386A>G, XR_242781.4:n.667A>G, XR_242781.3:n.689A>G, XR_242781.2:n.677A>G, XM_011519943.3:c.386A>G, XM_011519943.2:c.386A>G, XM_011519943.1:c.386A>G, XM_011519946.3:c.386A>G, XM_011519946.2:c.386A>G, XM_011519946.1:c.386A>G, NM_144981.3:c.386A>G, NM_144981.2:c.386A>G, NM_144981.1:c.386A>G, XM_011519945.3:c.386A>G, XM_011519945.2:c.386A>G, XM_011519945.1:c.386A>G, XM_011519947.3:c.386A>G, XM_011519947.2:c.386A>G, XM_011519947.1:c.386A>G, XM_011519942.2:c.386A>G, XM_011519942.1:c.386A>G, XM_017017305.2:c.386A>G, XM_017017305.1:c.386A>G, NM_001304274.2:c.386A>G, NM_001304274.1:c.386A>G, XM_017017306.2:c.278A>G, XM_017017306.1:c.278A>G, XM_047426520.1:c.386A>G, XM_047426521.1:c.386A>G, XP_005252869.1:p.Tyr129Cys, XP_011518245.1:p.Tyr129Cys, XP_011518248.1:p.Tyr129Cys, NP_659418.1:p.Tyr129Cys, XP_011518247.1:p.Tyr129Cys, XP_011518249.1:p.Tyr129Cys, XP_011518244.1:p.Tyr129Cys, XP_016872794.1:p.Tyr129Cys, NP_001291203.1:p.Tyr129Cys, XP_016872795.1:p.Tyr93Cys, XP_047282476.1:p.Tyr129Cys, XP_047282477.1:p.Tyr129Cys

                                      19.

                                      rs1336370451 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        11:31460689 (GRCh38)
                                        11:31482236 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:31460688:G:A
                                        Gene:
                                        IMMP1L (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000011.10:g.31460689G>A, NC_000011.9:g.31482236G>A, XM_005252812.4:c.131C>T, XM_005252812.3:c.131C>T, XM_005252812.2:c.131C>T, XM_005252812.1:c.131C>T, XR_242781.4:n.264C>T, XR_242781.3:n.286C>T, XR_242781.2:n.274C>T, XR_242781.1:n.260C>T, XM_011519943.3:c.131C>T, XM_011519943.2:c.131C>T, XM_011519943.1:c.131C>T, XM_011519946.3:c.131C>T, XM_011519946.2:c.131C>T, XM_011519946.1:c.131C>T, NM_144981.3:c.131C>T, NM_144981.2:c.131C>T, NM_144981.1:c.131C>T, XM_011519945.3:c.131C>T, XM_011519945.2:c.131C>T, XM_011519945.1:c.131C>T, XM_011519947.3:c.131C>T, XM_011519947.2:c.131C>T, XM_011519947.1:c.131C>T, XM_011519942.2:c.131C>T, XM_011519942.1:c.131C>T, XM_017017305.2:c.131C>T, XM_017017305.1:c.131C>T, NM_001304274.2:c.131C>T, NM_001304274.1:c.131C>T, XM_047426520.1:c.131C>T, XM_047426521.1:c.131C>T, XP_005252869.1:p.Thr44Ile, XP_011518245.1:p.Thr44Ile, XP_011518248.1:p.Thr44Ile, NP_659418.1:p.Thr44Ile, XP_011518247.1:p.Thr44Ile, XP_011518249.1:p.Thr44Ile, XP_011518244.1:p.Thr44Ile, XP_016872794.1:p.Thr44Ile, NP_001291203.1:p.Thr44Ile, XP_047282476.1:p.Thr44Ile, XP_047282477.1:p.Thr44Ile

                                        20.

                                        rs1336370197 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          11:31460698 (GRCh38)
                                          11:31482245 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:31460697:A:G
                                          Gene:
                                          IMMP1L (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000008/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000011.10:g.31460698A>G, NC_000011.9:g.31482245A>G, XM_005252812.4:c.122T>C, XM_005252812.3:c.122T>C, XM_005252812.2:c.122T>C, XM_005252812.1:c.122T>C, XR_242781.4:n.255T>C, XR_242781.3:n.277T>C, XR_242781.2:n.265T>C, XR_242781.1:n.251T>C, XM_011519943.3:c.122T>C, XM_011519943.2:c.122T>C, XM_011519943.1:c.122T>C, XM_011519946.3:c.122T>C, XM_011519946.2:c.122T>C, XM_011519946.1:c.122T>C, NM_144981.3:c.122T>C, NM_144981.2:c.122T>C, NM_144981.1:c.122T>C, XM_011519945.3:c.122T>C, XM_011519945.2:c.122T>C, XM_011519945.1:c.122T>C, XM_011519947.3:c.122T>C, XM_011519947.2:c.122T>C, XM_011519947.1:c.122T>C, XM_011519942.2:c.122T>C, XM_011519942.1:c.122T>C, XM_017017305.2:c.122T>C, XM_017017305.1:c.122T>C, NM_001304274.2:c.122T>C, NM_001304274.1:c.122T>C, XM_047426520.1:c.122T>C, XM_047426521.1:c.122T>C, XP_005252869.1:p.Met41Thr, XP_011518245.1:p.Met41Thr, XP_011518248.1:p.Met41Thr, NP_659418.1:p.Met41Thr, XP_011518247.1:p.Met41Thr, XP_011518249.1:p.Met41Thr, XP_011518244.1:p.Met41Thr, XP_016872794.1:p.Met41Thr, NP_001291203.1:p.Met41Thr, XP_047282476.1:p.Met41Thr, XP_047282477.1:p.Met41Thr

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