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 164

1.
2.

rs1477128668 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    10:119576651 (GRCh38)
    10:121336163 (GRCh37)
    Canonical SPDI:
    NC_000010.11:119576650:C:A,NC_000010.11:119576650:C:T
    Gene:
    TIAL1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    A=0.000008/2 (GnomAD_exomes)
    T=0.000008/2 (TOPMED)
    HGVS:
    NC_000010.11:g.119576651C>A, NC_000010.11:g.119576651C>T, NC_000010.10:g.121336163C>A, NC_000010.10:g.121336163C>T, NG_029240.1:g.25379G>T, NG_029240.1:g.25379G>A, NM_003252.4:c.961G>T, NM_003252.4:c.961G>A, NM_003252.3:c.961G>T, NM_003252.3:c.961G>A, NR_136662.2:n.1908G>T, NR_136662.2:n.1908G>A, NR_136662.1:n.1973G>T, NR_136662.1:n.1973G>A, NR_136663.2:n.1851G>T, NR_136663.2:n.1851G>A, NR_136663.1:n.1916G>T, NR_136663.1:n.1916G>A, NM_001323964.2:c.592G>T, NM_001323964.2:c.592G>A, NM_001323964.1:c.592G>T, NM_001323964.1:c.592G>A, NR_136661.2:n.1789G>T, NR_136661.2:n.1789G>A, NR_136661.1:n.1854G>T, NR_136661.1:n.1854G>A, NM_001323968.2:c.895G>T, NM_001323968.2:c.895G>A, NM_001323968.1:c.895G>T, NM_001323968.1:c.895G>A, NM_001323965.2:c.592G>T, NM_001323965.2:c.592G>A, NM_001323965.1:c.592G>T, NM_001323965.1:c.592G>A, NM_001323970.2:c.895G>T, NM_001323970.2:c.895G>A, NM_001323970.1:c.895G>T, NM_001323970.1:c.895G>A, NM_001323967.2:c.592G>T, NM_001323967.2:c.592G>A, NM_001323967.1:c.592G>T, NM_001323967.1:c.592G>A, NM_001323969.2:c.844G>T, NM_001323969.2:c.844G>A, NM_001323969.1:c.844G>T, NM_001323969.1:c.844G>A, NM_001033925.2:c.1012G>T, NM_001033925.2:c.1012G>A, NM_001033925.1:c.1012G>T, NM_001033925.1:c.1012G>A, XR_001747194.3:n.1744G>T, XR_001747194.3:n.1744G>A, XR_001747194.2:n.3621G>T, XR_001747194.2:n.3621G>A, XR_001747194.1:n.1742G>T, XR_001747194.1:n.1742G>A, XM_024448151.2:c.895G>T, XM_024448151.2:c.895G>A, XM_024448151.1:c.895G>T, XM_024448151.1:c.895G>A, XM_047425698.1:c.895G>T, XM_047425698.1:c.895G>A, XM_047425699.1:c.895G>T, XM_047425699.1:c.895G>A, NM_022333.1:c.*375G>T, NM_022333.1:c.*375G>A, XM_047425701.1:c.*141G>T, XM_047425701.1:c.*141G>A, NP_003243.1:p.Val321Leu, NP_003243.1:p.Val321Ile, NP_001310893.1:p.Val198Leu, NP_001310893.1:p.Val198Ile, NP_001310897.1:p.Val299Leu, NP_001310897.1:p.Val299Ile, NP_001310894.1:p.Val198Leu, NP_001310894.1:p.Val198Ile, NP_001310899.1:p.Val299Leu, NP_001310899.1:p.Val299Ile, NP_001310896.1:p.Val198Leu, NP_001310896.1:p.Val198Ile, NP_001310898.1:p.Val282Leu, NP_001310898.1:p.Val282Ile, NP_001029097.1:p.Val338Leu, NP_001029097.1:p.Val338Ile, XP_024303919.1:p.Val299Leu, XP_024303919.1:p.Val299Ile, XP_047281654.1:p.Val299Leu, XP_047281654.1:p.Val299Ile, XP_047281655.1:p.Val299Leu, XP_047281655.1:p.Val299Ile
    9.

    rs1457047221 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      10:119577718 (GRCh38)
      10:121337230 (GRCh37)
      Canonical SPDI:
      NC_000010.11:119577717:C:T
      Gene:
      TIAL1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000010.11:g.119577718C>T, NC_000010.10:g.121337230C>T, NG_029240.1:g.24312G>A, NM_003252.4:c.575G>A, NM_003252.3:c.575G>A, NR_136662.2:n.1193G>A, NR_136662.1:n.1258G>A, NR_136663.2:n.1136G>A, NR_136663.1:n.1201G>A, NM_001323964.2:c.206G>A, NM_001323964.1:c.206G>A, NR_136661.2:n.1074G>A, NR_136661.1:n.1139G>A, NM_001323968.2:c.509G>A, NM_001323968.1:c.509G>A, NM_001323965.2:c.206G>A, NM_001323965.1:c.206G>A, NM_001323970.2:c.509G>A, NM_001323970.1:c.509G>A, NM_001323967.2:c.206G>A, NM_001323967.1:c.206G>A, NM_001323969.2:c.458G>A, NM_001323969.1:c.458G>A, NM_001033925.2:c.626G>A, NM_001033925.1:c.626G>A, XR_001747194.3:n.1125G>A, XR_001747194.2:n.3002G>A, XR_001747194.1:n.1123G>A, XM_024448151.2:c.509G>A, XM_024448151.1:c.509G>A, XM_047425698.1:c.509G>A, XM_047425699.1:c.509G>A, NM_022333.1:c.458G>A, XM_047425701.1:c.626G>A, NP_003243.1:p.Arg192Lys, NP_001310893.1:p.Arg69Lys, NP_001310897.1:p.Arg170Lys, NP_001310894.1:p.Arg69Lys, NP_001310899.1:p.Arg170Lys, NP_001310896.1:p.Arg69Lys, NP_001310898.1:p.Arg153Lys, NP_001029097.1:p.Arg209Lys, XP_024303919.1:p.Arg170Lys, XP_047281654.1:p.Arg170Lys, XP_047281655.1:p.Arg170Lys, XP_047281657.1:p.Arg209Lys
      10.
      11.

      rs1451951128 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C,G [Show Flanks]
        Chromosome:
        10:119575781 (GRCh38)
        10:121335293 (GRCh37)
        Canonical SPDI:
        NC_000010.11:119575780:A:C,NC_000010.11:119575780:A:G
        Gene:
        TIAL1 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        C=0.000005/1 (GnomAD_exomes)
        HGVS:
        NC_000010.11:g.119575781A>C, NC_000010.11:g.119575781A>G, NC_000010.10:g.121335293A>C, NC_000010.10:g.121335293A>G, NG_029240.1:g.26249T>G, NG_029240.1:g.26249T>C, NM_003252.4:c.1012T>G, NM_003252.4:c.1012T>C, NM_003252.3:c.1012T>G, NM_003252.3:c.1012T>C, NR_136662.2:n.1959T>G, NR_136662.2:n.1959T>C, NR_136662.1:n.2024T>G, NR_136662.1:n.2024T>C, NR_136663.2:n.1902T>G, NR_136663.2:n.1902T>C, NR_136663.1:n.1967T>G, NR_136663.1:n.1967T>C, NM_001323964.2:c.643T>G, NM_001323964.2:c.643T>C, NM_001323964.1:c.643T>G, NM_001323964.1:c.643T>C, NR_136661.2:n.1840T>G, NR_136661.2:n.1840T>C, NR_136661.1:n.1905T>G, NR_136661.1:n.1905T>C, NM_001323968.2:c.967T>G, NM_001323968.2:c.967T>C, NM_001323968.1:c.967T>G, NM_001323968.1:c.967T>C, NM_001323965.2:c.643T>G, NM_001323965.2:c.643T>C, NM_001323965.1:c.643T>G, NM_001323965.1:c.643T>C, NM_001323970.2:c.946T>G, NM_001323970.2:c.946T>C, NM_001323970.1:c.946T>G, NM_001323970.1:c.946T>C, NM_001323967.2:c.643T>G, NM_001323967.2:c.643T>C, NM_001323967.1:c.643T>G, NM_001323967.1:c.643T>C, NM_001323969.2:c.895T>G, NM_001323969.2:c.895T>C, NM_001323969.1:c.895T>G, NM_001323969.1:c.895T>C, NM_001033925.2:c.1063T>G, NM_001033925.2:c.1063T>C, NM_001033925.1:c.1063T>G, NM_001033925.1:c.1063T>C, XM_024448151.2:c.946T>G, XM_024448151.2:c.946T>C, XM_024448151.1:c.946T>G, XM_024448151.1:c.946T>C, XM_047425698.1:c.946T>G, XM_047425698.1:c.946T>C, XM_047425699.1:c.946T>G, XM_047425699.1:c.946T>C, NM_022333.1:c.*426T>G, NM_022333.1:c.*426T>C, NP_003243.1:p.Ser338Ala, NP_003243.1:p.Ser338Pro, NP_001310893.1:p.Ser215Ala, NP_001310893.1:p.Ser215Pro, NP_001310897.1:p.Ser323Ala, NP_001310897.1:p.Ser323Pro, NP_001310894.1:p.Ser215Ala, NP_001310894.1:p.Ser215Pro, NP_001310899.1:p.Ser316Ala, NP_001310899.1:p.Ser316Pro, NP_001310896.1:p.Ser215Ala, NP_001310896.1:p.Ser215Pro, NP_001310898.1:p.Ser299Ala, NP_001310898.1:p.Ser299Pro, NP_001029097.1:p.Ser355Ala, NP_001029097.1:p.Ser355Pro, XP_024303919.1:p.Ser316Ala, XP_024303919.1:p.Ser316Pro, XP_047281654.1:p.Ser316Ala, XP_047281654.1:p.Ser316Pro, XP_047281655.1:p.Ser316Ala, XP_047281655.1:p.Ser316Pro
        15.

        rs1434518683 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          10:119577091 (GRCh38)
          10:121336603 (GRCh37)
          Canonical SPDI:
          NC_000010.11:119577090:T:C
          Gene:
          TIAL1 (Varview)
          Functional Consequence:
          missense_variant,non_coding_transcript_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000007/1 (GnomAD)
          HGVS:
          NC_000010.11:g.119577091T>C, NC_000010.10:g.121336603T>C, NG_029240.1:g.24939A>G, NM_003252.4:c.850A>G, NM_003252.3:c.850A>G, NR_136662.2:n.1468A>G, NR_136662.1:n.1533A>G, NR_136663.2:n.1411A>G, NR_136663.1:n.1476A>G, NM_001323964.2:c.481A>G, NM_001323964.1:c.481A>G, NR_136661.2:n.1349A>G, NR_136661.1:n.1414A>G, NM_001323968.2:c.784A>G, NM_001323968.1:c.784A>G, NM_001323965.2:c.481A>G, NM_001323965.1:c.481A>G, NM_001323970.2:c.784A>G, NM_001323970.1:c.784A>G, NM_001323967.2:c.481A>G, NM_001323967.1:c.481A>G, NM_001323969.2:c.733A>G, NM_001323969.1:c.733A>G, NM_001033925.2:c.901A>G, NM_001033925.1:c.901A>G, XR_001747194.3:n.1400A>G, XR_001747194.2:n.3277A>G, XR_001747194.1:n.1398A>G, XM_024448151.2:c.784A>G, XM_024448151.1:c.784A>G, XM_047425698.1:c.784A>G, XM_047425699.1:c.784A>G, NM_022333.1:c.733A>G, XM_047425701.1:c.901A>G, NP_003243.1:p.Asn284Asp, NP_001310893.1:p.Asn161Asp, NP_001310897.1:p.Asn262Asp, NP_001310894.1:p.Asn161Asp, NP_001310899.1:p.Asn262Asp, NP_001310896.1:p.Asn161Asp, NP_001310898.1:p.Asn245Asp, NP_001029097.1:p.Asn301Asp, XP_024303919.1:p.Asn262Asp, XP_047281654.1:p.Asn262Asp, XP_047281655.1:p.Asn262Asp, XP_047281657.1:p.Asn301Asp
          19.

          rs1422106821 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            10:119576656 (GRCh38)
            10:121336168 (GRCh37)
            Canonical SPDI:
            NC_000010.11:119576655:T:A
            Gene:
            TIAL1 (Varview)
            Functional Consequence:
            missense_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000015/4 (TOPMED)
            HGVS:
            NC_000010.11:g.119576656T>A, NC_000010.10:g.121336168T>A, NG_029240.1:g.25374A>T, NM_003252.4:c.956A>T, NM_003252.3:c.956A>T, NR_136662.2:n.1903A>T, NR_136662.1:n.1968A>T, NR_136663.2:n.1846A>T, NR_136663.1:n.1911A>T, NM_001323964.2:c.587A>T, NM_001323964.1:c.587A>T, NR_136661.2:n.1784A>T, NR_136661.1:n.1849A>T, NM_001323968.2:c.890A>T, NM_001323968.1:c.890A>T, NM_001323965.2:c.587A>T, NM_001323965.1:c.587A>T, NM_001323970.2:c.890A>T, NM_001323970.1:c.890A>T, NM_001323967.2:c.587A>T, NM_001323967.1:c.587A>T, NM_001323969.2:c.839A>T, NM_001323969.1:c.839A>T, NM_001033925.2:c.1007A>T, NM_001033925.1:c.1007A>T, XR_001747194.3:n.1739A>T, XR_001747194.2:n.3616A>T, XR_001747194.1:n.1737A>T, XM_024448151.2:c.890A>T, XM_024448151.1:c.890A>T, XM_047425698.1:c.890A>T, XM_047425699.1:c.890A>T, NM_022333.1:c.*370A>T, XM_047425701.1:c.*136A>T, NP_003243.1:p.Tyr319Phe, NP_001310893.1:p.Tyr196Phe, NP_001310897.1:p.Tyr297Phe, NP_001310894.1:p.Tyr196Phe, NP_001310899.1:p.Tyr297Phe, NP_001310896.1:p.Tyr196Phe, NP_001310898.1:p.Tyr280Phe, NP_001029097.1:p.Tyr336Phe, XP_024303919.1:p.Tyr297Phe, XP_047281654.1:p.Tyr297Phe, XP_047281655.1:p.Tyr297Phe

            Display Settings:

            Format
            Items per page
            Sort by

            Send to:

            Choose Destination

            Supplemental Content

            Find related data

            Recent activity

            Your browsing activity is empty.

            Activity recording is turned off.

            Turn recording back on

            See more...