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Items: 1 to 20 of 2124

2.

rs1490405462 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    14:74811728 (GRCh38)
    14:75278431 (GRCh37)
    Canonical SPDI:
    NC_000014.9:74811727:C:T
    Gene:
    YLPM1 (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by cluster
    MAF:
    T=0.000007/1 (GnomAD)
    HGVS:
    3.

    rs1490301029 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      14:74797840 (GRCh38)
      14:75264543 (GRCh37)
      Canonical SPDI:
      NC_000014.9:74797839:A:G
      Gene:
      YLPM1 (Varview)
      Functional Consequence:
      coding_sequence_variant,intron_variant,missense_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      4.

      rs1490025206 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        14:74798500 (GRCh38)
        14:75265203 (GRCh37)
        Canonical SPDI:
        NC_000014.9:74798499:G:A
        Gene:
        YLPM1 (Varview)
        Functional Consequence:
        coding_sequence_variant,intron_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0./0 (GnomAD)
        A=0.000004/1 (GnomAD_exomes)
        ...more
        HGVS:
        6.

        rs1489164664 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          14:74798078 (GRCh38)
          14:75264781 (GRCh37)
          Canonical SPDI:
          NC_000014.9:74798077:T:A
          Gene:
          YLPM1 (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          ...more
          HGVS:
          8.

          rs1488653118 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            C>- [Show Flanks]
            Chromosome:
            14:74764165 (GRCh38)
            14:75230868 (GRCh37)
            Canonical SPDI:
            NC_000014.9:74764164:CCC:CC
            Gene:
            YLPM1 (Varview)
            Functional Consequence:
            coding_sequence_variant,5_prime_UTR_variant,frameshift_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CC=0./0 (ALFA)
            -=0.000007/1 (GnomAD)
            HGVS:
            11.

            rs1488146311 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              14:74817253 (GRCh38)
              14:75283956 (GRCh37)
              Canonical SPDI:
              NC_000014.9:74817252:A:G
              Gene:
              YLPM1 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000014/2 (GnomAD)
              ...more
              HGVS:
              12.

              rs1487261591 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                14:74821131 (GRCh38)
                14:75287834 (GRCh37)
                Canonical SPDI:
                NC_000014.9:74821130:C:T
                Gene:
                YLPM1 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0./0 (GnomAD)
                HGVS:
                15.

                rs1486690104 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  14:74799078 (GRCh38)
                  14:75265781 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:74799077:C:T
                  Gene:
                  YLPM1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,stop_gained
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000007/1 (GnomAD)
                  ...more
                  HGVS:
                  16.

                  rs1485486738 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    14:74763997 (GRCh38)
                    14:75230700 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:74763996:C:G
                    Gene:
                    YLPM1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,5_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000035/1 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    G=0.000007/1 (GnomAD)
                    G=0.000011/3 (TOPMED)
                    ...more
                    HGVS:
                    17.

                    rs1485254658 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      14:74778635 (GRCh38)
                      14:75245338 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:74778634:A:G
                      Gene:
                      YLPM1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0.00005/1 (ALFA)
                      HGVS:
                      18.

                      rs1485094170 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        14:74835370 (GRCh38)
                        14:75302073 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:74835369:C:A
                        Gene:
                        YLPM1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        19.

                        rs1484740064 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          14:74798178 (GRCh38)
                          14:75264881 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:74798177:A:G
                          Gene:
                          YLPM1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (GnomAD_exomes)
                          G=0.000004/1 (TOPMED)
                          ...more
                          HGVS:

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