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Items: 1 to 20 of 607

1.

rs1486846711 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    7:36878024 (GRCh38)
    7:36917629 (GRCh37)
    Canonical SPDI:
    NC_000007.14:36878023:G:A,NC_000007.14:36878023:G:T
    Gene:
    ELMO1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000007.14:g.36878024G>A, NC_000007.14:g.36878024G>T, NC_000007.13:g.36917629G>A, NC_000007.13:g.36917629G>T, NM_014800.11:c.1808C>T, NM_014800.11:c.1808C>A, NM_014800.10:c.1808C>T, NM_014800.10:c.1808C>A, XM_005249919.4:c.1808C>T, XM_005249919.4:c.1808C>A, XM_005249919.3:c.1808C>T, XM_005249919.3:c.1808C>A, XM_005249919.2:c.1808C>T, XM_005249919.2:c.1808C>A, XM_005249919.1:c.1808C>T, XM_005249919.1:c.1808C>A, NM_130442.4:c.368C>T, NM_130442.4:c.368C>A, NM_130442.3:c.368C>T, NM_130442.3:c.368C>A, NM_130442.2:c.368C>T, NM_130442.2:c.368C>A, NM_130442.1:c.368C>T, NM_130442.1:c.368C>A, XM_011515654.3:c.1808C>T, XM_011515654.3:c.1808C>A, XM_011515654.2:c.1808C>T, XM_011515654.2:c.1808C>A, XM_011515654.1:c.1808C>T, XM_011515654.1:c.1808C>A, NM_001039459.3:c.368C>T, NM_001039459.3:c.368C>A, NM_001039459.2:c.368C>T, NM_001039459.2:c.368C>A, XM_024447008.2:c.1808C>T, XM_024447008.2:c.1808C>A, XM_024447008.1:c.1808C>T, XM_024447008.1:c.1808C>A, NM_001206482.2:c.1808C>T, NM_001206482.2:c.1808C>A, NM_001206482.1:c.1808C>T, NM_001206482.1:c.1808C>A, NM_001206480.2:c.1808C>T, NM_001206480.2:c.1808C>A, NM_001206480.1:c.1808C>T, NM_001206480.1:c.1808C>A, XM_017012839.2:c.1808C>T, XM_017012839.2:c.1808C>A, XM_017012839.1:c.1808C>T, XM_017012839.1:c.1808C>A, XM_006715805.2:c.1808C>T, XM_006715805.2:c.1808C>A, XM_006715805.1:c.1808C>T, XM_006715805.1:c.1808C>A, NR_038120.2:n.469C>T, NR_038120.2:n.469C>A, NR_038120.1:n.602C>T, NR_038120.1:n.602C>A, XM_047421087.1:c.1808C>T, XM_047421087.1:c.1808C>A, XM_047421086.1:c.1808C>T, XM_047421086.1:c.1808C>A, XM_047421088.1:c.1808C>T, XM_047421088.1:c.1808C>A, NR_038121.1:n.715C>T, NR_038121.1:n.715C>A, XM_047421089.1:c.1695C>T, XM_047421089.1:c.1695C>A, NP_055615.8:p.Ser603Phe, NP_055615.8:p.Ser603Tyr, XP_005249976.1:p.Ser603Phe, XP_005249976.1:p.Ser603Tyr, NP_569709.1:p.Ser123Phe, NP_569709.1:p.Ser123Tyr, XP_011513956.1:p.Ser603Phe, XP_011513956.1:p.Ser603Tyr, NP_001034548.1:p.Ser123Phe, NP_001034548.1:p.Ser123Tyr, XP_024302776.1:p.Ser603Phe, XP_024302776.1:p.Ser603Tyr, NP_001193411.1:p.Ser603Phe, NP_001193411.1:p.Ser603Tyr, NP_001193409.1:p.Ser603Phe, NP_001193409.1:p.Ser603Tyr, XP_016868328.1:p.Ser603Phe, XP_016868328.1:p.Ser603Tyr, XP_006715868.1:p.Ser603Phe, XP_006715868.1:p.Ser603Tyr, XP_047277043.1:p.Ser603Phe, XP_047277043.1:p.Ser603Tyr, XP_047277042.1:p.Ser603Phe, XP_047277042.1:p.Ser603Tyr, XP_047277044.1:p.Ser603Phe, XP_047277044.1:p.Ser603Tyr, XP_047277045.1:p.Phe565Leu

    2.

    rs1485909974 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      7:37342658 (GRCh38)
      7:37382262 (GRCh37)
      Canonical SPDI:
      NC_000007.14:37342657:G:A
      Gene:
      ELMO1 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000015/4 (TOPMED)
      A=0.000021/3 (GnomAD)
      HGVS:

      3.

      rs1485384662 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        7:37013435 (GRCh38)
        7:37053040 (GRCh37)
        Canonical SPDI:
        NC_000007.14:37013434:G:A
        Gene:
        ELMO1 (Varview), ELMO1-AS1 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_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_000007.14:g.37013435G>A, NC_000007.13:g.37053040G>A, NM_014800.11:c.1301C>T, NM_014800.10:c.1301C>T, XM_005249919.4:c.1301C>T, XM_005249919.3:c.1301C>T, XM_005249919.2:c.1301C>T, XM_005249919.1:c.1301C>T, XM_011515654.3:c.1301C>T, XM_011515654.2:c.1301C>T, XM_011515654.1:c.1301C>T, XM_024447008.2:c.1301C>T, XM_024447008.1:c.1301C>T, NM_001206482.2:c.1301C>T, NM_001206482.1:c.1301C>T, NM_001206480.2:c.1301C>T, NM_001206480.1:c.1301C>T, XM_017012839.2:c.1301C>T, XM_017012839.1:c.1301C>T, XM_006715805.2:c.1301C>T, XM_006715805.1:c.1301C>T, XM_047421091.1:c.1301C>T, XM_047421090.1:c.1301C>T, XM_047421087.1:c.1301C>T, XM_047421086.1:c.1301C>T, XM_047421088.1:c.1301C>T, XM_047421089.1:c.1301C>T, NR_104120.1:n.333G>A, NP_055615.8:p.Pro434Leu, XP_005249976.1:p.Pro434Leu, XP_011513956.1:p.Pro434Leu, XP_024302776.1:p.Pro434Leu, NP_001193411.1:p.Pro434Leu, NP_001193409.1:p.Pro434Leu, XP_016868328.1:p.Pro434Leu, XP_006715868.1:p.Pro434Leu, XP_047277047.1:p.Pro434Leu, XP_047277046.1:p.Pro434Leu, XP_047277043.1:p.Pro434Leu, XP_047277042.1:p.Pro434Leu, XP_047277044.1:p.Pro434Leu, XP_047277045.1:p.Pro434Leu

        4.

        rs1484554445 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          7:36894864 (GRCh38)
          7:36934469 (GRCh37)
          Canonical SPDI:
          NC_000007.14:36894863:G:A
          Gene:
          ELMO1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000008/2 (GnomAD_exomes)
          A=0.000008/2 (TOPMED)
          HGVS:
          NC_000007.14:g.36894864G>A, NC_000007.13:g.36934469G>A, NM_014800.11:c.1591C>T, NM_014800.10:c.1591C>T, XM_005249919.4:c.1591C>T, XM_005249919.3:c.1591C>T, XM_005249919.2:c.1591C>T, XM_005249919.1:c.1591C>T, NM_130442.4:c.151C>T, NM_130442.3:c.151C>T, NM_130442.2:c.151C>T, NM_130442.1:c.151C>T, XM_011515654.3:c.1591C>T, XM_011515654.2:c.1591C>T, XM_011515654.1:c.1591C>T, NM_001039459.3:c.151C>T, NM_001039459.2:c.151C>T, XM_024447008.2:c.1591C>T, XM_024447008.1:c.1591C>T, NM_001206482.2:c.1591C>T, NM_001206482.1:c.1591C>T, NM_001206480.2:c.1591C>T, NM_001206480.1:c.1591C>T, XM_017012839.2:c.1591C>T, XM_017012839.1:c.1591C>T, XM_006715805.2:c.1591C>T, XM_006715805.1:c.1591C>T, NR_038120.2:n.365C>T, NR_038120.1:n.498C>T, XM_047421087.1:c.1591C>T, XM_047421086.1:c.1591C>T, XM_047421088.1:c.1591C>T, NR_038121.1:n.498C>T, XM_047421089.1:c.1591C>T, NP_055615.8:p.Arg531Cys, XP_005249976.1:p.Arg531Cys, NP_569709.1:p.Arg51Cys, XP_011513956.1:p.Arg531Cys, NP_001034548.1:p.Arg51Cys, XP_024302776.1:p.Arg531Cys, NP_001193411.1:p.Arg531Cys, NP_001193409.1:p.Arg531Cys, XP_016868328.1:p.Arg531Cys, XP_006715868.1:p.Arg531Cys, XP_047277043.1:p.Arg531Cys, XP_047277042.1:p.Arg531Cys, XP_047277044.1:p.Arg531Cys, XP_047277045.1:p.Arg531Cys

          5.

          rs1482310147 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            7:36878100 (GRCh38)
            7:36917705 (GRCh37)
            Canonical SPDI:
            NC_000007.14:36878099:G:T
            Gene:
            ELMO1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,stop_gained
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000007.14:g.36878100G>T, NC_000007.13:g.36917705G>T, NM_014800.11:c.1732C>A, NM_014800.10:c.1732C>A, XM_005249919.4:c.1732C>A, XM_005249919.3:c.1732C>A, XM_005249919.2:c.1732C>A, XM_005249919.1:c.1732C>A, NM_130442.4:c.292C>A, NM_130442.3:c.292C>A, NM_130442.2:c.292C>A, NM_130442.1:c.292C>A, XM_011515654.3:c.1732C>A, XM_011515654.2:c.1732C>A, XM_011515654.1:c.1732C>A, NM_001039459.3:c.292C>A, NM_001039459.2:c.292C>A, XM_024447008.2:c.1732C>A, XM_024447008.1:c.1732C>A, NM_001206482.2:c.1732C>A, NM_001206482.1:c.1732C>A, NM_001206480.2:c.1732C>A, NM_001206480.1:c.1732C>A, XM_017012839.2:c.1732C>A, XM_017012839.1:c.1732C>A, XM_006715805.2:c.1732C>A, XM_006715805.1:c.1732C>A, NR_038120.2:n.393C>A, NR_038120.1:n.526C>A, XM_047421087.1:c.1732C>A, XM_047421086.1:c.1732C>A, XM_047421088.1:c.1732C>A, NR_038121.1:n.639C>A, XM_047421089.1:c.1619C>A, XP_047277045.1:p.Ser540Ter

            6.

            rs1480492156 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              7:37244388 (GRCh38)
              7:37283993 (GRCh37)
              Canonical SPDI:
              NC_000007.14:37244387:T:A
              Gene:
              ELMO1 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000008/2 (GnomAD_exomes)
              HGVS:

              7.

              rs1480048572 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>T [Show Flanks]
                Chromosome:
                7:37211476 (GRCh38)
                7:37251081 (GRCh37)
                Canonical SPDI:
                NC_000007.14:37211475:A:T
                Gene:
                ELMO1 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000007.14:g.37211476A>T, NC_000007.13:g.37251081A>T, NM_014800.11:c.996T>A, NM_014800.10:c.996T>A, XM_005249919.4:c.996T>A, XM_005249919.3:c.996T>A, XM_005249919.2:c.996T>A, XM_005249919.1:c.996T>A, XM_011515654.3:c.996T>A, XM_011515654.2:c.996T>A, XM_011515654.1:c.996T>A, XM_024447008.2:c.996T>A, XM_024447008.1:c.996T>A, NM_001206482.2:c.996T>A, NM_001206482.1:c.996T>A, NM_001206480.2:c.996T>A, NM_001206480.1:c.996T>A, XM_017012839.2:c.996T>A, XM_017012839.1:c.996T>A, XM_006715805.2:c.996T>A, XM_006715805.1:c.996T>A, XM_047421091.1:c.996T>A, XM_047421090.1:c.996T>A, XM_047421087.1:c.996T>A, XM_047421086.1:c.996T>A, XM_047421088.1:c.996T>A, XM_047421089.1:c.996T>A, NP_055615.8:p.Phe332Leu, XP_005249976.1:p.Phe332Leu, XP_011513956.1:p.Phe332Leu, XP_024302776.1:p.Phe332Leu, NP_001193411.1:p.Phe332Leu, NP_001193409.1:p.Phe332Leu, XP_016868328.1:p.Phe332Leu, XP_006715868.1:p.Phe332Leu, XP_047277047.1:p.Phe332Leu, XP_047277046.1:p.Phe332Leu, XP_047277043.1:p.Phe332Leu, XP_047277042.1:p.Phe332Leu, XP_047277044.1:p.Phe332Leu, XP_047277045.1:p.Phe332Leu

                8.

                rs1476483318 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  7:37013302 (GRCh38)
                  7:37052907 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:37013301:G:T
                  Gene:
                  ELMO1 (Varview), ELMO1-AS1 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000007.14:g.37013302G>T, NC_000007.13:g.37052907G>T, NM_014800.11:c.1434C>A, NM_014800.10:c.1434C>A, XM_005249919.4:c.1434C>A, XM_005249919.3:c.1434C>A, XM_005249919.2:c.1434C>A, XM_005249919.1:c.1434C>A, XM_011515654.3:c.1434C>A, XM_011515654.2:c.1434C>A, XM_011515654.1:c.1434C>A, XM_024447008.2:c.1434C>A, XM_024447008.1:c.1434C>A, NM_001206482.2:c.1434C>A, NM_001206482.1:c.1434C>A, NM_001206480.2:c.1434C>A, NM_001206480.1:c.1434C>A, XM_017012839.2:c.1434C>A, XM_017012839.1:c.1434C>A, XM_006715805.2:c.1434C>A, XM_006715805.1:c.1434C>A, XM_047421091.1:c.1434C>A, XM_047421090.1:c.1434C>A, XM_047421087.1:c.1434C>A, XM_047421086.1:c.1434C>A, XM_047421088.1:c.1434C>A, XM_047421089.1:c.1434C>A, NP_055615.8:p.Asn478Lys, XP_005249976.1:p.Asn478Lys, XP_011513956.1:p.Asn478Lys, XP_024302776.1:p.Asn478Lys, NP_001193411.1:p.Asn478Lys, NP_001193409.1:p.Asn478Lys, XP_016868328.1:p.Asn478Lys, XP_006715868.1:p.Asn478Lys, XP_047277047.1:p.Asn478Lys, XP_047277046.1:p.Asn478Lys, XP_047277043.1:p.Asn478Lys, XP_047277042.1:p.Asn478Lys, XP_047277044.1:p.Asn478Lys, XP_047277045.1:p.Asn478Lys

                  9.

                  rs1476363678 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    7:37259221 (GRCh38)
                    7:37298826 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:37259220:C:T
                    Gene:
                    ELMO1 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000007.14:g.37259221C>T, NC_000007.13:g.37298826C>T, NM_014800.11:c.373G>A, NM_014800.10:c.373G>A, XM_005249919.4:c.373G>A, XM_005249919.3:c.373G>A, XM_005249919.2:c.373G>A, XM_005249919.1:c.373G>A, XM_011515654.3:c.373G>A, XM_011515654.2:c.373G>A, XM_011515654.1:c.373G>A, XM_024447008.2:c.373G>A, XM_024447008.1:c.373G>A, NM_001206482.2:c.373G>A, NM_001206482.1:c.373G>A, NM_001206480.2:c.373G>A, NM_001206480.1:c.373G>A, XM_017012839.2:c.373G>A, XM_017012839.1:c.373G>A, XM_006715805.2:c.373G>A, XM_006715805.1:c.373G>A, XM_047421091.1:c.373G>A, XM_047421090.1:c.373G>A, XM_047421087.1:c.373G>A, XM_047421086.1:c.373G>A, XM_047421088.1:c.373G>A, XM_047421089.1:c.373G>A, NP_055615.8:p.Gly125Ser, XP_005249976.1:p.Gly125Ser, XP_011513956.1:p.Gly125Ser, XP_024302776.1:p.Gly125Ser, NP_001193411.1:p.Gly125Ser, NP_001193409.1:p.Gly125Ser, XP_016868328.1:p.Gly125Ser, XP_006715868.1:p.Gly125Ser, XP_047277047.1:p.Gly125Ser, XP_047277046.1:p.Gly125Ser, XP_047277043.1:p.Gly125Ser, XP_047277042.1:p.Gly125Ser, XP_047277044.1:p.Gly125Ser, XP_047277045.1:p.Gly125Ser

                    10.

                    rs1475919781 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      7:36870424 (GRCh38)
                      7:36910029 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:36870423:A:T
                      Gene:
                      ELMO1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,stop_gained
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000007.14:g.36870424A>T, NC_000007.13:g.36910029A>T, NM_014800.11:c.1874T>A, NM_014800.10:c.1874T>A, XM_005249919.4:c.1874T>A, XM_005249919.3:c.1874T>A, XM_005249919.2:c.1874T>A, XM_005249919.1:c.1874T>A, NM_130442.4:c.434T>A, NM_130442.3:c.434T>A, NM_130442.2:c.434T>A, NM_130442.1:c.434T>A, XM_011515654.3:c.1874T>A, XM_011515654.2:c.1874T>A, XM_011515654.1:c.1874T>A, NM_001039459.3:c.434T>A, NM_001039459.2:c.434T>A, XM_024447008.2:c.1874T>A, XM_024447008.1:c.1874T>A, NM_001206482.2:c.1874T>A, NM_001206482.1:c.1874T>A, NM_001206480.2:c.1874T>A, NM_001206480.1:c.1874T>A, XM_017012839.2:c.1874T>A, XM_017012839.1:c.1874T>A, XM_006715805.2:c.1874T>A, XM_006715805.1:c.1874T>A, NR_038120.2:n.535T>A, NR_038120.1:n.668T>A, XM_047421087.1:c.1874T>A, XM_047421086.1:c.1874T>A, XM_047421088.1:c.1874T>A, NR_038121.1:n.781T>A, XM_047421089.1:c.1761T>A, NP_055615.8:p.Met625Lys, XP_005249976.1:p.Met625Lys, NP_569709.1:p.Met145Lys, XP_011513956.1:p.Met625Lys, NP_001034548.1:p.Met145Lys, XP_024302776.1:p.Met625Lys, NP_001193411.1:p.Met625Lys, NP_001193409.1:p.Met625Lys, XP_016868328.1:p.Met625Lys, XP_006715868.1:p.Met625Lys, XP_047277043.1:p.Met625Lys, XP_047277042.1:p.Met625Lys, XP_047277044.1:p.Met625Lys, XP_047277045.1:p.Tyr587Ter

                      11.

                      rs1475312411 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        7:37133132 (GRCh38)
                        7:37172737 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:37133131:G:A
                        Gene:
                        ELMO1 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,missense_variant,coding_sequence_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_000007.14:g.37133132G>A, NC_000007.13:g.37172737G>A, NM_014800.11:c.1189C>T, NM_014800.10:c.1189C>T, XM_005249919.4:c.1189C>T, XM_005249919.3:c.1189C>T, XM_005249919.2:c.1189C>T, XM_005249919.1:c.1189C>T, XM_011515654.3:c.1189C>T, XM_011515654.2:c.1189C>T, XM_011515654.1:c.1189C>T, XM_024447008.2:c.1189C>T, XM_024447008.1:c.1189C>T, NM_001206482.2:c.1189C>T, NM_001206482.1:c.1189C>T, NM_001206480.2:c.1189C>T, NM_001206480.1:c.1189C>T, XM_017012839.2:c.1189C>T, XM_017012839.1:c.1189C>T, XM_006715805.2:c.1189C>T, XM_006715805.1:c.1189C>T, XM_047421091.1:c.1189C>T, XM_047421090.1:c.1189C>T, XM_047421087.1:c.1189C>T, XM_047421086.1:c.1189C>T, XM_047421088.1:c.1189C>T, XM_047421089.1:c.1189C>T, NP_055615.8:p.Arg397Trp, XP_005249976.1:p.Arg397Trp, XP_011513956.1:p.Arg397Trp, XP_024302776.1:p.Arg397Trp, NP_001193411.1:p.Arg397Trp, NP_001193409.1:p.Arg397Trp, XP_016868328.1:p.Arg397Trp, XP_006715868.1:p.Arg397Trp, XP_047277047.1:p.Arg397Trp, XP_047277046.1:p.Arg397Trp, XP_047277043.1:p.Arg397Trp, XP_047277042.1:p.Arg397Trp, XP_047277044.1:p.Arg397Trp, XP_047277045.1:p.Arg397Trp

                        12.

                        rs1471898920 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->G [Show Flanks]
                          Chromosome:
                          7:36878030 (GRCh38)
                          7:36917636 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:36878030:GGGG:GGGGG
                          Gene:
                          ELMO1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,frameshift_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000007.14:g.36878034dup, NC_000007.13:g.36917639dup, NM_014800.11:c.1801dup, NM_014800.10:c.1801dup, XM_005249919.4:c.1801dup, XM_005249919.3:c.1801dup, XM_005249919.2:c.1801dup, XM_005249919.1:c.1801dup, NM_130442.4:c.361dup, NM_130442.3:c.361dup, NM_130442.2:c.361dup, NM_130442.1:c.361dup, XM_011515654.3:c.1801dup, XM_011515654.2:c.1801dup, XM_011515654.1:c.1801dup, NM_001039459.3:c.361dup, NM_001039459.2:c.361dup, XM_024447008.2:c.1801dup, XM_024447008.1:c.1801dup, NM_001206482.2:c.1801dup, NM_001206482.1:c.1801dup, NM_001206480.2:c.1801dup, NM_001206480.1:c.1801dup, XM_017012839.2:c.1801dup, XM_017012839.1:c.1801dup, XM_006715805.2:c.1801dup, XM_006715805.1:c.1801dup, NR_038120.2:n.462dup, NR_038120.1:n.595dup, XM_047421087.1:c.1801dup, XM_047421086.1:c.1801dup, XM_047421088.1:c.1801dup, NR_038121.1:n.708dup, XM_047421089.1:c.1688dup, NP_055615.8:p.His601fs, XP_005249976.1:p.His601fs, NP_569709.1:p.His121fs, XP_011513956.1:p.His601fs, NP_001034548.1:p.His121fs, XP_024302776.1:p.His601fs, NP_001193411.1:p.His601fs, NP_001193409.1:p.His601fs, XP_016868328.1:p.His601fs, XP_006715868.1:p.His601fs, XP_047277043.1:p.His601fs, XP_047277042.1:p.His601fs, XP_047277044.1:p.His601fs, XP_047277045.1:p.Arg564fs

                          13.

                          rs1470575123 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            7:37315949 (GRCh38)
                            7:37355553 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:37315948:C:T
                            Gene:
                            ELMO1 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:

                            14.

                            rs1470051272 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              7:37315924 (GRCh38)
                              7:37355528 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:37315923:C:A
                              Gene:
                              ELMO1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000007.14:g.37315924C>A, NC_000007.13:g.37355528C>A, NM_014800.11:c.115G>T, NM_014800.10:c.115G>T, XM_005249919.4:c.115G>T, XM_005249919.3:c.115G>T, XM_005249919.2:c.115G>T, XM_005249919.1:c.115G>T, XM_011515654.3:c.115G>T, XM_011515654.2:c.115G>T, XM_011515654.1:c.115G>T, XM_024447008.2:c.115G>T, XM_024447008.1:c.115G>T, NM_001206482.2:c.115G>T, NM_001206482.1:c.115G>T, NM_001206480.2:c.115G>T, NM_001206480.1:c.115G>T, XM_017012839.2:c.115G>T, XM_017012839.1:c.115G>T, XM_006715805.2:c.115G>T, XM_006715805.1:c.115G>T, XM_047421091.1:c.115G>T, XM_047421090.1:c.115G>T, XM_047421087.1:c.115G>T, XM_047421086.1:c.115G>T, XM_047421088.1:c.115G>T, XM_047421089.1:c.115G>T, NP_055615.8:p.Asp39Tyr, XP_005249976.1:p.Asp39Tyr, XP_011513956.1:p.Asp39Tyr, XP_024302776.1:p.Asp39Tyr, NP_001193411.1:p.Asp39Tyr, NP_001193409.1:p.Asp39Tyr, XP_016868328.1:p.Asp39Tyr, XP_006715868.1:p.Asp39Tyr, XP_047277047.1:p.Asp39Tyr, XP_047277046.1:p.Asp39Tyr, XP_047277043.1:p.Asp39Tyr, XP_047277042.1:p.Asp39Tyr, XP_047277044.1:p.Asp39Tyr, XP_047277045.1:p.Asp39Tyr

                              15.

                              rs1468949207 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                7:37314922 (GRCh38)
                                7:37354526 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:37314921:C:T
                                Gene:
                                ELMO1 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000028/1 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                T=0.000004/1 (TOPMED)
                                HGVS:

                                16.

                                rs1467686691 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  7:37259336 (GRCh38)
                                  7:37298941 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:37259335:C:G
                                  Gene:
                                  ELMO1 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000007.14:g.37259336C>G, NC_000007.13:g.37298941C>G, NM_014800.11:c.258G>C, NM_014800.10:c.258G>C, XM_005249919.4:c.258G>C, XM_005249919.3:c.258G>C, XM_005249919.2:c.258G>C, XM_005249919.1:c.258G>C, XM_011515654.3:c.258G>C, XM_011515654.2:c.258G>C, XM_011515654.1:c.258G>C, XM_024447008.2:c.258G>C, XM_024447008.1:c.258G>C, NM_001206482.2:c.258G>C, NM_001206482.1:c.258G>C, NM_001206480.2:c.258G>C, NM_001206480.1:c.258G>C, XM_017012839.2:c.258G>C, XM_017012839.1:c.258G>C, XM_006715805.2:c.258G>C, XM_006715805.1:c.258G>C, XM_047421091.1:c.258G>C, XM_047421090.1:c.258G>C, XM_047421087.1:c.258G>C, XM_047421086.1:c.258G>C, XM_047421088.1:c.258G>C, XM_047421089.1:c.258G>C, NP_055615.8:p.Gln86His, XP_005249976.1:p.Gln86His, XP_011513956.1:p.Gln86His, XP_024302776.1:p.Gln86His, NP_001193411.1:p.Gln86His, NP_001193409.1:p.Gln86His, XP_016868328.1:p.Gln86His, XP_006715868.1:p.Gln86His, XP_047277047.1:p.Gln86His, XP_047277046.1:p.Gln86His, XP_047277043.1:p.Gln86His, XP_047277042.1:p.Gln86His, XP_047277044.1:p.Gln86His, XP_047277045.1:p.Gln86His

                                  17.

                                  rs1463816722 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    7:37213418 (GRCh38)
                                    7:37253023 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:37213417:C:T
                                    Gene:
                                    ELMO1 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,genic_upstream_transcript_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_000007.14:g.37213418C>T, NC_000007.13:g.37253023C>T, NM_014800.11:c.871G>A, NM_014800.10:c.871G>A, XM_005249919.4:c.871G>A, XM_005249919.3:c.871G>A, XM_005249919.2:c.871G>A, XM_005249919.1:c.871G>A, XM_011515654.3:c.871G>A, XM_011515654.2:c.871G>A, XM_011515654.1:c.871G>A, XM_024447008.2:c.871G>A, XM_024447008.1:c.871G>A, NM_001206482.2:c.871G>A, NM_001206482.1:c.871G>A, NM_001206480.2:c.871G>A, NM_001206480.1:c.871G>A, XM_017012839.2:c.871G>A, XM_017012839.1:c.871G>A, XM_006715805.2:c.871G>A, XM_006715805.1:c.871G>A, XM_047421091.1:c.871G>A, XM_047421090.1:c.871G>A, XM_047421087.1:c.871G>A, XM_047421086.1:c.871G>A, XM_047421088.1:c.871G>A, XM_047421089.1:c.871G>A, NP_055615.8:p.Ala291Thr, XP_005249976.1:p.Ala291Thr, XP_011513956.1:p.Ala291Thr, XP_024302776.1:p.Ala291Thr, NP_001193411.1:p.Ala291Thr, NP_001193409.1:p.Ala291Thr, XP_016868328.1:p.Ala291Thr, XP_006715868.1:p.Ala291Thr, XP_047277047.1:p.Ala291Thr, XP_047277046.1:p.Ala291Thr, XP_047277043.1:p.Ala291Thr, XP_047277042.1:p.Ala291Thr, XP_047277044.1:p.Ala291Thr, XP_047277045.1:p.Ala291Thr

                                    18.

                                    rs1463487577 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      7:36870428 (GRCh38)
                                      7:36910033 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:36870427:G:A
                                      Gene:
                                      ELMO1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000007.14:g.36870428G>A, NC_000007.13:g.36910033G>A, NM_014800.11:c.1870C>T, NM_014800.10:c.1870C>T, XM_005249919.4:c.1870C>T, XM_005249919.3:c.1870C>T, XM_005249919.2:c.1870C>T, XM_005249919.1:c.1870C>T, NM_130442.4:c.430C>T, NM_130442.3:c.430C>T, NM_130442.2:c.430C>T, NM_130442.1:c.430C>T, XM_011515654.3:c.1870C>T, XM_011515654.2:c.1870C>T, XM_011515654.1:c.1870C>T, NM_001039459.3:c.430C>T, NM_001039459.2:c.430C>T, XM_024447008.2:c.1870C>T, XM_024447008.1:c.1870C>T, NM_001206482.2:c.1870C>T, NM_001206482.1:c.1870C>T, NM_001206480.2:c.1870C>T, NM_001206480.1:c.1870C>T, XM_017012839.2:c.1870C>T, XM_017012839.1:c.1870C>T, XM_006715805.2:c.1870C>T, XM_006715805.1:c.1870C>T, NR_038120.2:n.531C>T, NR_038120.1:n.664C>T, XM_047421087.1:c.1870C>T, XM_047421086.1:c.1870C>T, XM_047421088.1:c.1870C>T, NR_038121.1:n.777C>T, XM_047421089.1:c.1757C>T, NP_055615.8:p.His624Tyr, XP_005249976.1:p.His624Tyr, NP_569709.1:p.His144Tyr, XP_011513956.1:p.His624Tyr, NP_001034548.1:p.His144Tyr, XP_024302776.1:p.His624Tyr, NP_001193411.1:p.His624Tyr, NP_001193409.1:p.His624Tyr, XP_016868328.1:p.His624Tyr, XP_006715868.1:p.His624Tyr, XP_047277043.1:p.His624Tyr, XP_047277042.1:p.His624Tyr, XP_047277044.1:p.His624Tyr, XP_047277045.1:p.Ser586Leu

                                      19.

                                      rs1462119176 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GTT>- [Show Flanks]
                                        Chromosome:
                                        7:37211455 (GRCh38)
                                        7:37251060 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:37211450:TGTTGTT:TGTT
                                        Gene:
                                        ELMO1 (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,coding_sequence_variant,inframe_deletion
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TGTT=0./0 (ALFA)
                                        -=0.000008/2 (TOPMED)
                                        -=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000007.14:g.37211452GTT[1], NC_000007.13:g.37251057GTT[1], NM_014800.11:c.1016ACA[1], NM_014800.10:c.1016ACA[1], XM_005249919.4:c.1016ACA[1], XM_005249919.3:c.1016ACA[1], XM_005249919.2:c.1016ACA[1], XM_005249919.1:c.1016ACA[1], XM_011515654.3:c.1016ACA[1], XM_011515654.2:c.1016ACA[1], XM_011515654.1:c.1016ACA[1], XM_024447008.2:c.1016ACA[1], XM_024447008.1:c.1016ACA[1], NM_001206482.2:c.1016ACA[1], NM_001206482.1:c.1016ACA[1], NM_001206480.2:c.1016ACA[1], NM_001206480.1:c.1016ACA[1], XM_017012839.2:c.1016ACA[1], XM_017012839.1:c.1016ACA[1], XM_006715805.2:c.1016ACA[1], XM_006715805.1:c.1016ACA[1], XM_047421091.1:c.1016ACA[1], XM_047421090.1:c.1016ACA[1], XM_047421087.1:c.1016ACA[1], XM_047421086.1:c.1016ACA[1], XM_047421088.1:c.1016ACA[1], XM_047421089.1:c.1016ACA[1], NP_055615.8:p.Asn340del, XP_005249976.1:p.Asn340del, XP_011513956.1:p.Asn340del, XP_024302776.1:p.Asn340del, NP_001193411.1:p.Asn340del, NP_001193409.1:p.Asn340del, XP_016868328.1:p.Asn340del, XP_006715868.1:p.Asn340del, XP_047277047.1:p.Asn340del, XP_047277046.1:p.Asn340del, XP_047277043.1:p.Asn340del, XP_047277042.1:p.Asn340del, XP_047277044.1:p.Asn340del, XP_047277045.1:p.Asn340del

                                        20.

                                        rs1456903997 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          7:37224996 (GRCh38)
                                          7:37264601 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:37224995:A:C
                                          Gene:
                                          ELMO1 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000011/3 (TOPMED)
                                          HGVS:
                                          NC_000007.14:g.37224996A>C, NC_000007.13:g.37264601A>C, NM_014800.11:c.584T>G, NM_014800.10:c.584T>G, XM_005249919.4:c.584T>G, XM_005249919.3:c.584T>G, XM_005249919.2:c.584T>G, XM_005249919.1:c.584T>G, XM_011515654.3:c.584T>G, XM_011515654.2:c.584T>G, XM_011515654.1:c.584T>G, XM_024447008.2:c.584T>G, XM_024447008.1:c.584T>G, NM_001206482.2:c.584T>G, NM_001206482.1:c.584T>G, NM_001206480.2:c.584T>G, NM_001206480.1:c.584T>G, XM_017012839.2:c.584T>G, XM_017012839.1:c.584T>G, XM_006715805.2:c.584T>G, XM_006715805.1:c.584T>G, XM_047421091.1:c.584T>G, XM_047421090.1:c.584T>G, XM_047421087.1:c.584T>G, XM_047421086.1:c.584T>G, XM_047421088.1:c.584T>G, XM_047421089.1:c.584T>G, NP_055615.8:p.Ile195Ser, XP_005249976.1:p.Ile195Ser, XP_011513956.1:p.Ile195Ser, XP_024302776.1:p.Ile195Ser, NP_001193411.1:p.Ile195Ser, NP_001193409.1:p.Ile195Ser, XP_016868328.1:p.Ile195Ser, XP_006715868.1:p.Ile195Ser, XP_047277047.1:p.Ile195Ser, XP_047277046.1:p.Ile195Ser, XP_047277043.1:p.Ile195Ser, XP_047277042.1:p.Ile195Ser, XP_047277044.1:p.Ile195Ser, XP_047277045.1:p.Ile195Ser

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