U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 900

1.

rs1490520888 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    11:94800004 (GRCh38)
    11:94533170 (GRCh37)
    Canonical SPDI:
    NC_000011.10:94800003:A:G
    Gene:
    AMOTL1 (Varview)
    Functional Consequence:
    missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000011.10:g.94800004A>G, NC_000011.9:g.94533170A>G, XM_005273798.5:c.901A>G, XM_005273798.4:c.901A>G, XM_005273798.3:c.901A>G, XM_005273798.2:c.901A>G, XM_005273798.1:c.901A>G, XM_005273801.5:c.556A>G, XM_005273801.4:c.556A>G, XM_005273801.3:c.556A>G, XM_005273801.2:c.556A>G, XM_005273801.1:c.556A>G, XM_006718772.4:c.901A>G, XM_006718772.3:c.901A>G, XM_006718772.2:c.901A>G, XM_006718772.1:c.901A>G, NM_130847.3:c.814A>G, NM_130847.2:c.814A>G, XM_011542626.3:c.751A>G, XM_011542626.2:c.751A>G, XM_011542626.1:c.751A>G, NM_001301007.2:c.664A>G, NM_001301007.1:c.664A>G, XM_047426450.1:c.556A>G, XM_047426452.1:c.709A>G, XM_047426451.1:c.814A>G, XM_047426453.1:c.664A>G, XP_005273855.1:p.Arg301Gly, XP_005273858.1:p.Arg186Gly, XP_006718835.1:p.Arg301Gly, NP_570899.1:p.Arg272Gly, XP_011540928.1:p.Arg251Gly, NP_001287936.1:p.Arg222Gly, XP_047282406.1:p.Arg186Gly, XP_047282408.1:p.Arg237Gly, XP_047282407.1:p.Arg272Gly, XP_047282409.1:p.Arg222Gly

    2.

    rs1489335567 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      11:94869265 (GRCh38)
      11:94602430 (GRCh37)
      Canonical SPDI:
      NC_000011.10:94869264:A:G
      Gene:
      AMOTL1 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:

      3.

      rs1488490379 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        11:94799689 (GRCh38)
        11:94532855 (GRCh37)
        Canonical SPDI:
        NC_000011.10:94799688:G:A
        Gene:
        AMOTL1 (Varview)
        Functional Consequence:
        missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000011.10:g.94799689G>A, NC_000011.9:g.94532855G>A, XM_005273798.5:c.586G>A, XM_005273798.4:c.586G>A, XM_005273798.3:c.586G>A, XM_005273798.2:c.586G>A, XM_005273798.1:c.586G>A, XM_005273801.5:c.241G>A, XM_005273801.4:c.241G>A, XM_005273801.3:c.241G>A, XM_005273801.2:c.241G>A, XM_005273801.1:c.241G>A, XM_006718772.4:c.586G>A, XM_006718772.3:c.586G>A, XM_006718772.2:c.586G>A, XM_006718772.1:c.586G>A, NM_130847.3:c.499G>A, NM_130847.2:c.499G>A, XM_011542626.3:c.436G>A, XM_011542626.2:c.436G>A, XM_011542626.1:c.436G>A, NM_001301007.2:c.349G>A, NM_001301007.1:c.349G>A, XM_047426450.1:c.241G>A, XM_047426452.1:c.394G>A, XM_047426451.1:c.499G>A, XM_047426453.1:c.349G>A, XP_005273855.1:p.Val196Met, XP_005273858.1:p.Val81Met, XP_006718835.1:p.Val196Met, NP_570899.1:p.Val167Met, XP_011540928.1:p.Val146Met, NP_001287936.1:p.Val117Met, XP_047282406.1:p.Val81Met, XP_047282408.1:p.Val132Met, XP_047282407.1:p.Val167Met, XP_047282409.1:p.Val117Met

        4.

        rs1486976210 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          11:94831484 (GRCh38)
          11:94564650 (GRCh37)
          Canonical SPDI:
          NC_000011.10:94831483:A:G
          Gene:
          AMOTL1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0./0 (GnomAD)
          G=0.000004/1 (TOPMED)
          HGVS:
          NC_000011.10:g.94831484A>G, NC_000011.9:g.94564650A>G, XM_005273798.5:c.1678A>G, XM_005273798.4:c.1678A>G, XM_005273798.3:c.1678A>G, XM_005273798.2:c.1678A>G, XM_005273798.1:c.1678A>G, XM_005273801.5:c.1333A>G, XM_005273801.4:c.1333A>G, XM_005273801.3:c.1333A>G, XM_005273801.2:c.1333A>G, XM_005273801.1:c.1333A>G, XM_006718772.4:c.1678A>G, XM_006718772.3:c.1678A>G, XM_006718772.2:c.1678A>G, XM_006718772.1:c.1678A>G, XM_011542628.3:c.535A>G, XM_011542628.2:c.535A>G, XM_011542628.1:c.535A>G, NM_130847.3:c.1591A>G, NM_130847.2:c.1591A>G, XM_011542626.3:c.1528A>G, XM_011542626.2:c.1528A>G, XM_011542626.1:c.1528A>G, NM_001301007.2:c.1441A>G, NM_001301007.1:c.1441A>G, XM_047426450.1:c.1333A>G, XM_047426452.1:c.1486A>G, XM_047426451.1:c.1591A>G, XM_047426453.1:c.1441A>G, XP_005273855.1:p.Ser560Gly, XP_005273858.1:p.Ser445Gly, XP_006718835.1:p.Ser560Gly, XP_011540930.1:p.Ser179Gly, NP_570899.1:p.Ser531Gly, XP_011540928.1:p.Ser510Gly, NP_001287936.1:p.Ser481Gly, XP_047282406.1:p.Ser445Gly, XP_047282408.1:p.Ser496Gly, XP_047282407.1:p.Ser531Gly, XP_047282409.1:p.Ser481Gly

          5.

          rs1486932137 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            11:94865952 (GRCh38)
            11:94599117 (GRCh37)
            Canonical SPDI:
            NC_000011.10:94865951:C:A
            Gene:
            AMOTL1 (Varview)
            Functional Consequence:
            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)
            A=0.000007/1 (GnomAD)
            HGVS:

            6.

            rs1484053997 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              11:94821653 (GRCh38)
              11:94554819 (GRCh37)
              Canonical SPDI:
              NC_000011.10:94821652:G:A
              Gene:
              AMOTL1 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000071/1 (ALFA)
              A=0.000007/1 (GnomAD)
              A=0.000008/2 (TOPMED)
              HGVS:

              7.

              rs1483387912 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                11:94821689 (GRCh38)
                11:94554855 (GRCh37)
                Canonical SPDI:
                NC_000011.10:94821688:C:G,NC_000011.10:94821688:C:T
                Gene:
                AMOTL1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,synonymous_variant
                Validated:
                by frequency,by cluster
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                T=0.000035/1 (TOMMO)
                HGVS:
                NC_000011.10:g.94821689C>G, NC_000011.10:g.94821689C>T, NC_000011.9:g.94554855C>G, NC_000011.9:g.94554855C>T, XM_005273798.5:c.1368C>G, XM_005273798.5:c.1368C>T, XM_005273798.4:c.1368C>G, XM_005273798.4:c.1368C>T, XM_005273798.3:c.1368C>G, XM_005273798.3:c.1368C>T, XM_005273798.2:c.1368C>G, XM_005273798.2:c.1368C>T, XM_005273798.1:c.1368C>G, XM_005273798.1:c.1368C>T, XM_005273801.5:c.1023C>G, XM_005273801.5:c.1023C>T, XM_005273801.4:c.1023C>G, XM_005273801.4:c.1023C>T, XM_005273801.3:c.1023C>G, XM_005273801.3:c.1023C>T, XM_005273801.2:c.1023C>G, XM_005273801.2:c.1023C>T, XM_005273801.1:c.1023C>G, XM_005273801.1:c.1023C>T, XM_006718772.4:c.1368C>G, XM_006718772.4:c.1368C>T, XM_006718772.3:c.1368C>G, XM_006718772.3:c.1368C>T, XM_006718772.2:c.1368C>G, XM_006718772.2:c.1368C>T, XM_006718772.1:c.1368C>G, XM_006718772.1:c.1368C>T, XM_011542628.3:c.225C>G, XM_011542628.3:c.225C>T, XM_011542628.2:c.225C>G, XM_011542628.2:c.225C>T, XM_011542628.1:c.225C>G, XM_011542628.1:c.225C>T, NM_130847.3:c.1281C>G, NM_130847.3:c.1281C>T, NM_130847.2:c.1281C>G, NM_130847.2:c.1281C>T, XM_011542626.3:c.1218C>G, XM_011542626.3:c.1218C>T, XM_011542626.2:c.1218C>G, XM_011542626.2:c.1218C>T, XM_011542626.1:c.1218C>G, XM_011542626.1:c.1218C>T, NM_001301007.2:c.1131C>G, NM_001301007.2:c.1131C>T, NM_001301007.1:c.1131C>G, NM_001301007.1:c.1131C>T, XM_047426450.1:c.1023C>G, XM_047426450.1:c.1023C>T, XM_047426452.1:c.1176C>G, XM_047426452.1:c.1176C>T, XM_047426451.1:c.1281C>G, XM_047426451.1:c.1281C>T, XM_047426453.1:c.1131C>G, XM_047426453.1:c.1131C>T, XP_005273855.1:p.Ser456Arg, XP_005273858.1:p.Ser341Arg, XP_006718835.1:p.Ser456Arg, XP_011540930.1:p.Ser75Arg, NP_570899.1:p.Ser427Arg, XP_011540928.1:p.Ser406Arg, NP_001287936.1:p.Ser377Arg, XP_047282406.1:p.Ser341Arg, XP_047282408.1:p.Ser392Arg, XP_047282407.1:p.Ser427Arg, XP_047282409.1:p.Ser377Arg

                8.

                rs1481854997 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  11:94800211 (GRCh38)
                  11:94533377 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:94800210:A:G
                  Gene:
                  AMOTL1 (Varview)
                  Functional Consequence:
                  upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                  HGVS:
                  NC_000011.10:g.94800211A>G, NC_000011.9:g.94533377A>G, XM_005273798.5:c.1108A>G, XM_005273798.4:c.1108A>G, XM_005273798.3:c.1108A>G, XM_005273798.2:c.1108A>G, XM_005273798.1:c.1108A>G, XM_005273801.5:c.763A>G, XM_005273801.4:c.763A>G, XM_005273801.3:c.763A>G, XM_005273801.2:c.763A>G, XM_005273801.1:c.763A>G, XM_006718772.4:c.1108A>G, XM_006718772.3:c.1108A>G, XM_006718772.2:c.1108A>G, XM_006718772.1:c.1108A>G, NM_130847.3:c.1021A>G, NM_130847.2:c.1021A>G, XM_011542626.3:c.958A>G, XM_011542626.2:c.958A>G, XM_011542626.1:c.958A>G, NM_001301007.2:c.871A>G, NM_001301007.1:c.871A>G, XM_047426450.1:c.763A>G, XM_047426452.1:c.916A>G, XM_047426451.1:c.1021A>G, XM_047426453.1:c.871A>G, XP_005273855.1:p.Met370Val, XP_005273858.1:p.Met255Val, XP_006718835.1:p.Met370Val, NP_570899.1:p.Met341Val, XP_011540928.1:p.Met320Val, NP_001287936.1:p.Met291Val, XP_047282406.1:p.Met255Val, XP_047282408.1:p.Met306Val, XP_047282407.1:p.Met341Val, XP_047282409.1:p.Met291Val

                  9.

                  rs1479852622 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    11:94853981 (GRCh38)
                    11:94587146 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:94853980:G:T
                    Gene:
                    AMOTL1 (Varview)
                    Functional Consequence:
                    coding_sequence_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.94853981G>T, NC_000011.9:g.94587146G>T, XM_005273798.5:c.1930G>T, XM_005273798.4:c.1930G>T, XM_005273798.3:c.1930G>T, XM_005273798.2:c.1930G>T, XM_005273798.1:c.1930G>T, XM_005273801.5:c.1585G>T, XM_005273801.4:c.1585G>T, XM_005273801.3:c.1585G>T, XM_005273801.2:c.1585G>T, XM_005273801.1:c.1585G>T, XM_006718772.4:c.1930G>T, XM_006718772.3:c.1930G>T, XM_006718772.2:c.1930G>T, XM_006718772.1:c.1930G>T, XM_011542628.3:c.787G>T, XM_011542628.2:c.787G>T, XM_011542628.1:c.787G>T, NM_130847.3:c.1843G>T, NM_130847.2:c.1843G>T, XM_011542626.3:c.1780G>T, XM_011542626.2:c.1780G>T, XM_011542626.1:c.1780G>T, NM_001301007.2:c.1693G>T, NM_001301007.1:c.1693G>T, XM_047426450.1:c.1585G>T, XM_047426452.1:c.1738G>T, XM_047426451.1:c.1843G>T, XM_047426453.1:c.1693G>T, XP_005273855.1:p.Ala644Ser, XP_005273858.1:p.Ala529Ser, XP_006718835.1:p.Ala644Ser, XP_011540930.1:p.Ala263Ser, NP_570899.1:p.Ala615Ser, XP_011540928.1:p.Ala594Ser, NP_001287936.1:p.Ala565Ser, XP_047282406.1:p.Ala529Ser, XP_047282408.1:p.Ala580Ser, XP_047282407.1:p.Ala615Ser, XP_047282409.1:p.Ala565Ser

                    10.

                    rs1477831209 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      11:94854062 (GRCh38)
                      11:94587227 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:94854061:G:T
                      Gene:
                      AMOTL1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000006/1 (GnomAD_exomes)
                      HGVS:
                      NC_000011.10:g.94854062G>T, NC_000011.9:g.94587227G>T, XM_005273798.5:c.2011G>T, XM_005273798.4:c.2011G>T, XM_005273798.3:c.2011G>T, XM_005273798.2:c.2011G>T, XM_005273798.1:c.2011G>T, XM_005273801.5:c.1666G>T, XM_005273801.4:c.1666G>T, XM_005273801.3:c.1666G>T, XM_005273801.2:c.1666G>T, XM_005273801.1:c.1666G>T, XM_006718772.4:c.2011G>T, XM_006718772.3:c.2011G>T, XM_006718772.2:c.2011G>T, XM_006718772.1:c.2011G>T, XM_011542628.3:c.868G>T, XM_011542628.2:c.868G>T, XM_011542628.1:c.868G>T, NM_130847.3:c.1924G>T, NM_130847.2:c.1924G>T, XM_011542626.3:c.1861G>T, XM_011542626.2:c.1861G>T, XM_011542626.1:c.1861G>T, NM_001301007.2:c.1774G>T, NM_001301007.1:c.1774G>T, XM_047426450.1:c.1666G>T, XM_047426452.1:c.1819G>T, XM_047426451.1:c.1924G>T, XM_047426453.1:c.1774G>T, XP_005273855.1:p.Asp671Tyr, XP_005273858.1:p.Asp556Tyr, XP_006718835.1:p.Asp671Tyr, XP_011540930.1:p.Asp290Tyr, NP_570899.1:p.Asp642Tyr, XP_011540928.1:p.Asp621Tyr, NP_001287936.1:p.Asp592Tyr, XP_047282406.1:p.Asp556Tyr, XP_047282408.1:p.Asp607Tyr, XP_047282407.1:p.Asp642Tyr, XP_047282409.1:p.Asp592Tyr

                      11.

                      rs1477032257 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        11:94799913 (GRCh38)
                        11:94533079 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:94799912:T:G
                        Gene:
                        AMOTL1 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000011.10:g.94799913T>G, NC_000011.9:g.94533079T>G, XM_005273798.5:c.810T>G, XM_005273798.4:c.810T>G, XM_005273798.3:c.810T>G, XM_005273798.2:c.810T>G, XM_005273798.1:c.810T>G, XM_005273801.5:c.465T>G, XM_005273801.4:c.465T>G, XM_005273801.3:c.465T>G, XM_005273801.2:c.465T>G, XM_005273801.1:c.465T>G, XM_006718772.4:c.810T>G, XM_006718772.3:c.810T>G, XM_006718772.2:c.810T>G, XM_006718772.1:c.810T>G, NM_130847.3:c.723T>G, NM_130847.2:c.723T>G, XM_011542626.3:c.660T>G, XM_011542626.2:c.660T>G, XM_011542626.1:c.660T>G, NM_001301007.2:c.573T>G, NM_001301007.1:c.573T>G, XM_047426450.1:c.465T>G, XM_047426452.1:c.618T>G, XM_047426451.1:c.723T>G, XM_047426453.1:c.573T>G, XP_005273855.1:p.Ser270Arg, XP_005273858.1:p.Ser155Arg, XP_006718835.1:p.Ser270Arg, NP_570899.1:p.Ser241Arg, XP_011540928.1:p.Ser220Arg, NP_001287936.1:p.Ser191Arg, XP_047282406.1:p.Ser155Arg, XP_047282408.1:p.Ser206Arg, XP_047282407.1:p.Ser241Arg, XP_047282409.1:p.Ser191Arg

                        12.

                        rs1475538783 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          11:94869266 (GRCh38)
                          11:94602431 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:94869265:G:A
                          Gene:
                          AMOTL1 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000008/2 (TOPMED)
                          HGVS:

                          13.

                          rs1475030317 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            11:94799996 (GRCh38)
                            11:94533162 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:94799995:C:T
                            Gene:
                            AMOTL1 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000012/3 (GnomAD_exomes)
                            HGVS:
                            NC_000011.10:g.94799996C>T, NC_000011.9:g.94533162C>T, XM_005273798.5:c.893C>T, XM_005273798.4:c.893C>T, XM_005273798.3:c.893C>T, XM_005273798.2:c.893C>T, XM_005273798.1:c.893C>T, XM_005273801.5:c.548C>T, XM_005273801.4:c.548C>T, XM_005273801.3:c.548C>T, XM_005273801.2:c.548C>T, XM_005273801.1:c.548C>T, XM_006718772.4:c.893C>T, XM_006718772.3:c.893C>T, XM_006718772.2:c.893C>T, XM_006718772.1:c.893C>T, NM_130847.3:c.806C>T, NM_130847.2:c.806C>T, XM_011542626.3:c.743C>T, XM_011542626.2:c.743C>T, XM_011542626.1:c.743C>T, NM_001301007.2:c.656C>T, NM_001301007.1:c.656C>T, XM_047426450.1:c.548C>T, XM_047426452.1:c.701C>T, XM_047426451.1:c.806C>T, XM_047426453.1:c.656C>T, XP_005273855.1:p.Ser298Phe, XP_005273858.1:p.Ser183Phe, XP_006718835.1:p.Ser298Phe, NP_570899.1:p.Ser269Phe, XP_011540928.1:p.Ser248Phe, NP_001287936.1:p.Ser219Phe, XP_047282406.1:p.Ser183Phe, XP_047282408.1:p.Ser234Phe, XP_047282407.1:p.Ser269Phe, XP_047282409.1:p.Ser219Phe

                            14.

                            rs1473515167 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              11:94859552 (GRCh38)
                              11:94592717 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:94859551:A:G
                              Gene:
                              AMOTL1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:

                              15.

                              rs1473264425 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                11:94866077 (GRCh38)
                                11:94599242 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:94866076:A:G
                                Gene:
                                AMOTL1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000014/2 (GnomAD)
                                G=0.000015/4 (TOPMED)
                                HGVS:

                                16.

                                rs1473076402 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  11:94859703 (GRCh38)
                                  11:94592868 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:94859702:C:T
                                  Gene:
                                  AMOTL1 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:

                                  17.

                                  rs1471300070 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    11:94800148 (GRCh38)
                                    11:94533314 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:94800147:A:T
                                    Gene:
                                    AMOTL1 (Varview)
                                    Functional Consequence:
                                    upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000011.10:g.94800148A>T, NC_000011.9:g.94533314A>T, XM_005273798.5:c.1045A>T, XM_005273798.4:c.1045A>T, XM_005273798.3:c.1045A>T, XM_005273798.2:c.1045A>T, XM_005273798.1:c.1045A>T, XM_005273801.5:c.700A>T, XM_005273801.4:c.700A>T, XM_005273801.3:c.700A>T, XM_005273801.2:c.700A>T, XM_005273801.1:c.700A>T, XM_006718772.4:c.1045A>T, XM_006718772.3:c.1045A>T, XM_006718772.2:c.1045A>T, XM_006718772.1:c.1045A>T, NM_130847.3:c.958A>T, NM_130847.2:c.958A>T, XM_011542626.3:c.895A>T, XM_011542626.2:c.895A>T, XM_011542626.1:c.895A>T, NM_001301007.2:c.808A>T, NM_001301007.1:c.808A>T, XM_047426450.1:c.700A>T, XM_047426452.1:c.853A>T, XM_047426451.1:c.958A>T, XM_047426453.1:c.808A>T, XP_005273855.1:p.Met349Leu, XP_005273858.1:p.Met234Leu, XP_006718835.1:p.Met349Leu, NP_570899.1:p.Met320Leu, XP_011540928.1:p.Met299Leu, NP_001287936.1:p.Met270Leu, XP_047282406.1:p.Met234Leu, XP_047282408.1:p.Met285Leu, XP_047282407.1:p.Met320Leu, XP_047282409.1:p.Met270Leu

                                    18.

                                    rs1469789640 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      11:94799420 (GRCh38)
                                      11:94532586 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:94799419:C:A,NC_000011.10:94799419:C:T
                                      Gene:
                                      AMOTL1 (Varview)
                                      Functional Consequence:
                                      missense_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000224/1 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000223/1 (Estonian)
                                      HGVS:
                                      NC_000011.10:g.94799420C>A, NC_000011.10:g.94799420C>T, NC_000011.9:g.94532586C>A, NC_000011.9:g.94532586C>T, XM_005273798.5:c.317C>A, XM_005273798.5:c.317C>T, XM_005273798.4:c.317C>A, XM_005273798.4:c.317C>T, XM_005273798.3:c.317C>A, XM_005273798.3:c.317C>T, XM_005273798.2:c.317C>A, XM_005273798.2:c.317C>T, XM_005273798.1:c.317C>A, XM_005273798.1:c.317C>T, XM_005273801.5:c.-29C>A, XM_005273801.5:c.-29C>T, XM_005273801.4:c.-29C>A, XM_005273801.4:c.-29C>T, XM_005273801.3:c.-29C>A, XM_005273801.3:c.-29C>T, XM_005273801.2:c.-29C>A, XM_005273801.2:c.-29C>T, XM_005273801.1:c.-29C>A, XM_005273801.1:c.-29C>T, XM_006718772.4:c.317C>A, XM_006718772.4:c.317C>T, XM_006718772.3:c.317C>A, XM_006718772.3:c.317C>T, XM_006718772.2:c.317C>A, XM_006718772.2:c.317C>T, XM_006718772.1:c.317C>A, XM_006718772.1:c.317C>T, NM_130847.3:c.230C>A, NM_130847.3:c.230C>T, NM_130847.2:c.230C>A, NM_130847.2:c.230C>T, XM_011542626.3:c.167C>A, XM_011542626.3:c.167C>T, XM_011542626.2:c.167C>A, XM_011542626.2:c.167C>T, XM_011542626.1:c.167C>A, XM_011542626.1:c.167C>T, NM_001301007.2:c.80C>A, NM_001301007.2:c.80C>T, NM_001301007.1:c.80C>A, NM_001301007.1:c.80C>T, XM_047426450.1:c.-29C>A, XM_047426450.1:c.-29C>T, XM_047426452.1:c.125C>A, XM_047426452.1:c.125C>T, XM_047426451.1:c.230C>A, XM_047426451.1:c.230C>T, XM_047426453.1:c.80C>A, XM_047426453.1:c.80C>T, XP_005273855.1:p.Pro106Gln, XP_005273855.1:p.Pro106Leu, XP_006718835.1:p.Pro106Gln, XP_006718835.1:p.Pro106Leu, NP_570899.1:p.Pro77Gln, NP_570899.1:p.Pro77Leu, XP_011540928.1:p.Pro56Gln, XP_011540928.1:p.Pro56Leu, NP_001287936.1:p.Pro27Gln, NP_001287936.1:p.Pro27Leu, XP_047282408.1:p.Pro42Gln, XP_047282408.1:p.Pro42Leu, XP_047282407.1:p.Pro77Gln, XP_047282407.1:p.Pro77Leu, XP_047282409.1:p.Pro27Gln, XP_047282409.1:p.Pro27Leu

                                      19.

                                      rs1469075862 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        11:94859540 (GRCh38)
                                        11:94592705 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:94859539:C:A
                                        Gene:
                                        AMOTL1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000008/2 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1468820334 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          11:94865970 (GRCh38)
                                          11:94599135 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:94865969:G:C
                                          Gene:
                                          AMOTL1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...