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 593

1.

rs1487497749 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    4:184776579 (GRCh38)
    4:185697733 (GRCh37)
    Canonical SPDI:
    NC_000004.12:184776578:G:A
    Gene:
    ACSL1 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,non_coding_transcript_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000004.12:g.184776579G>A, NC_000004.11:g.185697733G>A, NM_001995.5:c.661C>T, NM_001995.4:c.661C>T, NM_001995.3:c.661C>T, NM_001995.2:c.661C>T, NM_001286708.2:c.661C>T, NM_001286708.1:c.661C>T, XM_017007887.2:c.661C>T, XM_017007887.1:c.661C>T, NM_001286710.2:c.661C>T, NM_001286710.1:c.661C>T, NM_001286711.2:c.559C>T, NM_001286711.1:c.559C>T, NM_021122.2:c.661C>T, NM_001286712.1:c.148C>T, NR_167698.1:n.1068C>T, NM_001381888.1:c.514C>T, NR_167708.1:n.943C>T, NM_001381886.1:c.661C>T, NM_001381881.1:c.661C>T, NM_001381889.1:c.514C>T, NM_001381879.1:c.661C>T, NM_001381880.1:c.661C>T, NM_001381878.1:c.661C>T, NM_001381885.1:c.661C>T, NM_001381877.1:c.661C>T, NM_001381887.1:c.661C>T, NM_001381883.1:c.661C>T, NR_167706.1:n.746C>T, XM_047449819.1:c.661C>T, NR_167705.1:n.756C>T, NM_001381884.1:c.661C>T, NR_167709.1:n.730C>T, NM_001381882.1:c.661C>T, NM_001381890.1:c.469C>T, NR_167704.1:n.529C>T, NR_167703.1:n.519C>T, NR_167702.1:n.519C>T, NM_021122.1:c.661C>T, NP_001986.2:p.Leu221Phe, NP_001273637.1:p.Leu221Phe, XP_016863376.1:p.Leu221Phe, NP_001273639.1:p.Leu221Phe, NP_001273640.1:p.Leu187Phe, NP_001368817.1:p.Leu172Phe, NP_001368815.1:p.Leu221Phe, NP_001368810.1:p.Leu221Phe, NP_001368818.1:p.Leu172Phe, NP_001368808.1:p.Leu221Phe, NP_001368809.1:p.Leu221Phe, NP_001368807.1:p.Leu221Phe, NP_001368814.1:p.Leu221Phe, NP_001368806.1:p.Leu221Phe, NP_001368816.1:p.Leu221Phe, NP_001368812.1:p.Leu221Phe, XP_047305775.1:p.Leu221Phe, NP_001368813.1:p.Leu221Phe, NP_001368811.1:p.Leu221Phe, NP_001368819.1:p.Leu157Phe

    2.

    rs1485854195 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      4:184783991 (GRCh38)
      4:185705145 (GRCh37)
      Canonical SPDI:
      NC_000004.12:184783990:T:C
      Gene:
      ACSL1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,non_coding_transcript_variant
      Validated:
      by frequency,by cluster
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      C=0.000212/4 (TOMMO)
      HGVS:
      NC_000004.12:g.184783991T>C, NC_000004.11:g.185705145T>C, NM_001995.5:c.311A>G, NM_001995.4:c.311A>G, NM_001995.3:c.311A>G, NM_001995.2:c.311A>G, NM_001286708.2:c.311A>G, NM_001286708.1:c.311A>G, XM_017007887.2:c.311A>G, XM_017007887.1:c.311A>G, NM_001286710.2:c.311A>G, NM_001286710.1:c.311A>G, NM_001286711.2:c.311A>G, NM_001286711.1:c.311A>G, NM_021122.2:c.311A>G, NM_001286712.1:c.-203A>G, NR_167698.1:n.718A>G, NM_001381888.1:c.164A>G, NR_167708.1:n.583A>G, NM_001381886.1:c.311A>G, NM_001381881.1:c.311A>G, NM_001381889.1:c.164A>G, NM_001381879.1:c.311A>G, NM_001381880.1:c.311A>G, NM_001381878.1:c.311A>G, NM_001381885.1:c.311A>G, NM_001381877.1:c.311A>G, NM_001381887.1:c.311A>G, NM_001381883.1:c.311A>G, NR_167706.1:n.396A>G, XM_047449819.1:c.311A>G, NR_167705.1:n.396A>G, NM_001381884.1:c.311A>G, NR_167709.1:n.370A>G, NM_001381882.1:c.311A>G, NM_001381890.1:c.119A>G, NR_167704.1:n.169A>G, NR_167703.1:n.169A>G, NR_167702.1:n.169A>G, NM_021122.1:c.311A>G, NP_001986.2:p.Asn104Ser, NP_001273637.1:p.Asn104Ser, XP_016863376.1:p.Asn104Ser, NP_001273639.1:p.Asn104Ser, NP_001273640.1:p.Asn104Ser, NP_001368817.1:p.Tyr55Cys, NP_001368815.1:p.Asn104Ser, NP_001368810.1:p.Asn104Ser, NP_001368818.1:p.Tyr55Cys, NP_001368808.1:p.Asn104Ser, NP_001368809.1:p.Asn104Ser, NP_001368807.1:p.Asn104Ser, NP_001368814.1:p.Asn104Ser, NP_001368806.1:p.Asn104Ser, NP_001368816.1:p.Asn104Ser, NP_001368812.1:p.Asn104Ser, XP_047305775.1:p.Asn104Ser, NP_001368813.1:p.Asn104Ser, NP_001368811.1:p.Asn104Ser, NP_001368819.1:p.Asn40Ser

      3.

      rs1485539460 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        4:184770472 (GRCh38)
        4:185691626 (GRCh37)
        Canonical SPDI:
        NC_000004.12:184770471:G:A
        Gene:
        ACSL1 (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000004.12:g.184770472G>A, NC_000004.11:g.185691626G>A, NM_001995.5:c.920C>T, NM_001995.4:c.920C>T, NM_001995.3:c.920C>T, NM_001995.2:c.920C>T, NM_001286708.2:c.920C>T, NM_001286708.1:c.920C>T, XM_017007887.2:c.920C>T, XM_017007887.1:c.920C>T, NM_001286711.2:c.818C>T, NM_001286711.1:c.818C>T, NM_021122.2:c.920C>T, NM_001286712.1:c.407C>T, NR_167698.1:n.1327C>T, NM_001381888.1:c.773C>T, NR_167708.1:n.1202C>T, NM_001381881.1:c.920C>T, NM_001381889.1:c.773C>T, NM_001381879.1:c.920C>T, NM_001381880.1:c.920C>T, NM_001381878.1:c.920C>T, NM_001381877.1:c.920C>T, NM_001381883.1:c.920C>T, NR_167706.1:n.1051C>T, NR_167705.1:n.1015C>T, NR_167709.1:n.989C>T, NM_001381882.1:c.920C>T, NM_001381890.1:c.728C>T, NR_167704.1:n.788C>T, NR_167703.1:n.778C>T, NM_021122.1:c.920C>T, NP_001986.2:p.Thr307Ile, NP_001273637.1:p.Thr307Ile, XP_016863376.1:p.Thr307Ile, NP_001273640.1:p.Thr273Ile, NP_001368817.1:p.Thr258Ile, NP_001368810.1:p.Thr307Ile, NP_001368818.1:p.Thr258Ile, NP_001368808.1:p.Thr307Ile, NP_001368809.1:p.Thr307Ile, NP_001368807.1:p.Thr307Ile, NP_001368806.1:p.Thr307Ile, NP_001368812.1:p.Thr307Ile, NP_001368811.1:p.Thr307Ile, NP_001368819.1:p.Thr243Ile

        4.

        rs1482567949 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          4:184803447 (GRCh38)
          4:185724601 (GRCh37)
          Canonical SPDI:
          NC_000004.12:184803446:C:T
          Gene:
          ACSL1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000056/2 (ALFA)
          T=0.000015/4 (TOPMED)
          T=0.000043/6 (GnomAD)
          HGVS:
          NC_000004.12:g.184803447C>T, NC_000004.11:g.185724601C>T, NM_001995.5:c.68G>A, NM_001995.4:c.68G>A, NM_001995.3:c.68G>A, NM_001995.2:c.68G>A, NM_001286708.2:c.68G>A, NM_001286708.1:c.68G>A, XM_017007887.2:c.68G>A, XM_017007887.1:c.68G>A, NM_001286710.2:c.68G>A, NM_001286710.1:c.68G>A, NM_001286711.2:c.68G>A, NM_001286711.1:c.68G>A, NM_021122.2:c.68G>A, NM_001286712.1:c.-581G>A, NR_167698.1:n.340G>A, NM_001381888.1:c.-189G>A, NR_167708.1:n.340G>A, NM_001381886.1:c.68G>A, NM_001381881.1:c.68G>A, NM_001381889.1:c.-189G>A, NM_001381879.1:c.68G>A, NM_001381880.1:c.68G>A, NM_001381878.1:c.68G>A, NM_001381885.1:c.68G>A, NM_001381877.1:c.68G>A, NM_001381887.1:c.68G>A, NM_001381883.1:c.68G>A, NR_167706.1:n.153G>A, XM_047449819.1:c.68G>A, NR_167705.1:n.153G>A, NM_001381884.1:c.68G>A, NR_167709.1:n.127G>A, NM_001381882.1:c.68G>A, NM_021122.1:c.68G>A, NP_001986.2:p.Arg23His, NP_001273637.1:p.Arg23His, XP_016863376.1:p.Arg23His, NP_001273639.1:p.Arg23His, NP_001273640.1:p.Arg23His, NP_001368815.1:p.Arg23His, NP_001368810.1:p.Arg23His, NP_001368808.1:p.Arg23His, NP_001368809.1:p.Arg23His, NP_001368807.1:p.Arg23His, NP_001368814.1:p.Arg23His, NP_001368806.1:p.Arg23His, NP_001368816.1:p.Arg23His, NP_001368812.1:p.Arg23His, XP_047305775.1:p.Arg23His, NP_001368813.1:p.Arg23His, NP_001368811.1:p.Arg23His

          5.

          rs1481347107 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G,T [Show Flanks]
            Chromosome:
            4:184760420 (GRCh38)
            4:185681574 (GRCh37)
            Canonical SPDI:
            NC_000004.12:184760419:A:G,NC_000004.12:184760419:A:T
            Gene:
            ACSL1 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000028/1 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            T=0.000342/1 (KOREAN)
            HGVS:
            NC_000004.12:g.184760420A>G, NC_000004.12:g.184760420A>T, NC_000004.11:g.185681574A>G, NC_000004.11:g.185681574A>T, NM_001995.5:c.1719T>C, NM_001995.5:c.1719T>A, NM_001995.4:c.1719T>C, NM_001995.4:c.1719T>A, NM_001995.3:c.1719T>C, NM_001995.3:c.1719T>A, NM_001995.2:c.1719T>C, NM_001995.2:c.1719T>A, NM_001286708.2:c.1719T>C, NM_001286708.2:c.1719T>A, NM_001286708.1:c.1719T>C, NM_001286708.1:c.1719T>A, XM_017007887.2:c.1719T>C, XM_017007887.2:c.1719T>A, XM_017007887.1:c.1719T>C, XM_017007887.1:c.1719T>A, NM_001286710.2:c.1719T>C, NM_001286710.2:c.1719T>A, NM_001286710.1:c.1719T>C, NM_001286710.1:c.1719T>A, NM_001286711.2:c.1617T>C, NM_001286711.2:c.1617T>A, NM_001286711.1:c.1617T>C, NM_001286711.1:c.1617T>A, NM_021122.2:c.1719T>C, NM_021122.2:c.1719T>A, NM_001286712.1:c.1206T>C, NM_001286712.1:c.1206T>A, NR_167698.1:n.2126T>C, NR_167698.1:n.2126T>A, NM_001381888.1:c.1572T>C, NM_001381888.1:c.1572T>A, NR_167708.1:n.2001T>C, NR_167708.1:n.2001T>A, NM_001381886.1:c.1719T>C, NM_001381886.1:c.1719T>A, NM_001381881.1:c.1719T>C, NM_001381881.1:c.1719T>A, NM_001381889.1:c.1572T>C, NM_001381889.1:c.1572T>A, NM_001381879.1:c.1719T>C, NM_001381879.1:c.1719T>A, NM_001381880.1:c.1719T>C, NM_001381880.1:c.1719T>A, NM_001381878.1:c.1719T>C, NM_001381878.1:c.1719T>A, NM_001381885.1:c.1719T>C, NM_001381885.1:c.1719T>A, NM_001381877.1:c.1719T>C, NM_001381877.1:c.1719T>A, NM_001381887.1:c.1719T>C, NM_001381887.1:c.1719T>A, NM_001381883.1:c.1719T>C, NM_001381883.1:c.1719T>A, NR_167706.1:n.1850T>C, NR_167706.1:n.1850T>A, XM_047449819.1:c.1719T>C, XM_047449819.1:c.1719T>A, NR_167705.1:n.1814T>C, NR_167705.1:n.1814T>A, NM_001381884.1:c.1719T>C, NM_001381884.1:c.1719T>A, NR_167709.1:n.1788T>C, NR_167709.1:n.1788T>A, NM_001381882.1:c.1719T>C, NM_001381882.1:c.1719T>A, NM_001381890.1:c.1527T>C, NM_001381890.1:c.1527T>A, NR_167704.1:n.1587T>C, NR_167704.1:n.1587T>A, NR_167703.1:n.1577T>C, NR_167703.1:n.1577T>A, NR_167702.1:n.1577T>C, NR_167702.1:n.1577T>A, NM_021122.1:c.1719T>C, NM_021122.1:c.1719T>A

            6.

            rs1481315900 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              4:184765944 (GRCh38)
              4:185687098 (GRCh37)
              Canonical SPDI:
              NC_000004.12:184765943:C:T
              Gene:
              ACSL1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000004.12:g.184765944C>T, NC_000004.11:g.185687098C>T, NM_001995.5:c.1306G>A, NM_001995.4:c.1306G>A, NM_001995.3:c.1306G>A, NM_001995.2:c.1306G>A, NM_001286708.2:c.1306G>A, NM_001286708.1:c.1306G>A, XM_017007887.2:c.1306G>A, XM_017007887.1:c.1306G>A, NM_001286710.2:c.1306G>A, NM_001286710.1:c.1306G>A, NM_001286711.2:c.1204G>A, NM_001286711.1:c.1204G>A, NM_021122.2:c.1306G>A, NM_001286712.1:c.793G>A, NR_167698.1:n.1713G>A, NM_001381888.1:c.1159G>A, NR_167708.1:n.1588G>A, NM_001381886.1:c.1306G>A, NM_001381881.1:c.1306G>A, NM_001381889.1:c.1159G>A, NM_001381879.1:c.1306G>A, NM_001381880.1:c.1306G>A, NM_001381878.1:c.1306G>A, NM_001381885.1:c.1306G>A, NM_001381877.1:c.1306G>A, NM_001381887.1:c.1306G>A, NM_001381883.1:c.1306G>A, NR_167706.1:n.1437G>A, XM_047449819.1:c.1306G>A, NR_167705.1:n.1401G>A, NM_001381884.1:c.1306G>A, NR_167709.1:n.1375G>A, NM_001381882.1:c.1306G>A, NM_001381890.1:c.1114G>A, NR_167704.1:n.1174G>A, NR_167703.1:n.1164G>A, NR_167702.1:n.1164G>A, NM_021122.1:c.1306G>A, NP_001986.2:p.Ala436Thr, NP_001273637.1:p.Ala436Thr, XP_016863376.1:p.Ala436Thr, NP_001273639.1:p.Ala436Thr, NP_001273640.1:p.Ala402Thr, NP_001368817.1:p.Ala387Thr, NP_001368815.1:p.Ala436Thr, NP_001368810.1:p.Ala436Thr, NP_001368818.1:p.Ala387Thr, NP_001368808.1:p.Ala436Thr, NP_001368809.1:p.Ala436Thr, NP_001368807.1:p.Ala436Thr, NP_001368814.1:p.Ala436Thr, NP_001368806.1:p.Ala436Thr, NP_001368816.1:p.Ala436Thr, NP_001368812.1:p.Ala436Thr, XP_047305775.1:p.Ala436Thr, NP_001368813.1:p.Ala436Thr, NP_001368811.1:p.Ala436Thr, NP_001368819.1:p.Ala372Thr

              7.

              rs1475491962 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                4:184803466 (GRCh38)
                4:185724620 (GRCh37)
                Canonical SPDI:
                NC_000004.12:184803465:C:A
                Gene:
                ACSL1 (Varview)
                Functional Consequence:
                missense_variant,5_prime_UTR_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
                Validated:
                by frequency
                MAF:
                A=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000004.12:g.184803466C>A, NC_000004.11:g.185724620C>A, NM_001995.5:c.49G>T, NM_001995.4:c.49G>T, NM_001995.3:c.49G>T, NM_001995.2:c.49G>T, NM_001286708.2:c.49G>T, NM_001286708.1:c.49G>T, XM_017007887.2:c.49G>T, XM_017007887.1:c.49G>T, NM_001286710.2:c.49G>T, NM_001286710.1:c.49G>T, NM_001286711.2:c.49G>T, NM_001286711.1:c.49G>T, NM_021122.2:c.49G>T, NM_001286712.1:c.-600G>T, NR_167698.1:n.321G>T, NM_001381888.1:c.-208G>T, NR_167708.1:n.321G>T, NM_001381886.1:c.49G>T, NM_001381881.1:c.49G>T, NM_001381889.1:c.-208G>T, NM_001381879.1:c.49G>T, NM_001381880.1:c.49G>T, NM_001381878.1:c.49G>T, NM_001381885.1:c.49G>T, NM_001381877.1:c.49G>T, NM_001381887.1:c.49G>T, NM_001381883.1:c.49G>T, NR_167706.1:n.134G>T, XM_047449819.1:c.49G>T, NR_167705.1:n.134G>T, NM_001381884.1:c.49G>T, NR_167709.1:n.108G>T, NM_001381882.1:c.49G>T, NM_021122.1:c.49G>T, NP_001986.2:p.Asp17Tyr, NP_001273637.1:p.Asp17Tyr, XP_016863376.1:p.Asp17Tyr, NP_001273639.1:p.Asp17Tyr, NP_001273640.1:p.Asp17Tyr, NP_001368815.1:p.Asp17Tyr, NP_001368810.1:p.Asp17Tyr, NP_001368808.1:p.Asp17Tyr, NP_001368809.1:p.Asp17Tyr, NP_001368807.1:p.Asp17Tyr, NP_001368814.1:p.Asp17Tyr, NP_001368806.1:p.Asp17Tyr, NP_001368816.1:p.Asp17Tyr, NP_001368812.1:p.Asp17Tyr, XP_047305775.1:p.Asp17Tyr, NP_001368813.1:p.Asp17Tyr, NP_001368811.1:p.Asp17Tyr

                8.

                rs1472546456 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  4:184788702 (GRCh38)
                  4:185709856 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:184788701:T:C
                  Gene:
                  ACSL1 (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0.000031/1 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000004.12:g.184788702T>C, NC_000004.11:g.185709856T>C, NM_001995.5:c.225A>G, NM_001995.4:c.225A>G, NM_001995.3:c.225A>G, NM_001995.2:c.225A>G, NM_001286708.2:c.225A>G, NM_001286708.1:c.225A>G, XM_017007887.2:c.225A>G, XM_017007887.1:c.225A>G, NM_001286710.2:c.225A>G, NM_001286710.1:c.225A>G, NM_001286711.2:c.225A>G, NM_001286711.1:c.225A>G, NM_021122.2:c.225A>G, NM_001286712.1:c.-424A>G, NR_167698.1:n.497A>G, NM_001381888.1:c.-32A>G, NR_167708.1:n.497A>G, NM_001381886.1:c.225A>G, NM_001381881.1:c.225A>G, NM_001381889.1:c.-32A>G, NM_001381879.1:c.225A>G, NM_001381880.1:c.225A>G, NM_001381878.1:c.225A>G, NM_001381885.1:c.225A>G, NM_001381877.1:c.225A>G, NM_001381887.1:c.225A>G, NM_001381883.1:c.225A>G, NR_167706.1:n.310A>G, XM_047449819.1:c.225A>G, NR_167705.1:n.310A>G, NM_001381884.1:c.225A>G, NR_167709.1:n.284A>G, NM_001381882.1:c.225A>G, NM_001381890.1:c.33A>G, NR_167704.1:n.83A>G, NR_167703.1:n.83A>G, NR_167702.1:n.83A>G, NM_021122.1:c.225A>G

                  9.

                  rs1471895421 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    4:184776658 (GRCh38)
                    4:185697812 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:184776657:T:C
                    Gene:
                    ACSL1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    C=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000004.12:g.184776658T>C, NC_000004.11:g.185697812T>C, NM_001995.5:c.582A>G, NM_001995.4:c.582A>G, NM_001995.3:c.582A>G, NM_001995.2:c.582A>G, NM_001286708.2:c.582A>G, NM_001286708.1:c.582A>G, XM_017007887.2:c.582A>G, XM_017007887.1:c.582A>G, NM_001286710.2:c.582A>G, NM_001286710.1:c.582A>G, NM_001286711.2:c.480A>G, NM_001286711.1:c.480A>G, NM_021122.2:c.582A>G, NM_001286712.1:c.69A>G, NR_167698.1:n.989A>G, NM_001381888.1:c.435A>G, NR_167708.1:n.864A>G, NM_001381886.1:c.582A>G, NM_001381881.1:c.582A>G, NM_001381889.1:c.435A>G, NM_001381879.1:c.582A>G, NM_001381880.1:c.582A>G, NM_001381878.1:c.582A>G, NM_001381885.1:c.582A>G, NM_001381877.1:c.582A>G, NM_001381887.1:c.582A>G, NM_001381883.1:c.582A>G, NR_167706.1:n.667A>G, XM_047449819.1:c.582A>G, NR_167705.1:n.677A>G, NM_001381884.1:c.582A>G, NR_167709.1:n.651A>G, NM_001381882.1:c.582A>G, NM_001381890.1:c.390A>G, NR_167704.1:n.450A>G, NR_167703.1:n.440A>G, NR_167702.1:n.440A>G, NM_021122.1:c.582A>G

                    10.

                    rs1471713898 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      4:184757687 (GRCh38)
                      4:185678841 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:184757686:A:G
                      Gene:
                      ACSL1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000004.12:g.184757687A>G, NC_000004.11:g.185678841A>G, NM_001995.5:c.1904T>C, NM_001995.4:c.1904T>C, NM_001995.3:c.1904T>C, NM_001995.2:c.1904T>C, NM_001286708.2:c.1904T>C, NM_001286708.1:c.1904T>C, XM_017007887.2:c.1904T>C, XM_017007887.1:c.1904T>C, NM_001286710.2:c.1904T>C, NM_001286710.1:c.1904T>C, NM_001286711.2:c.1802T>C, NM_001286711.1:c.1802T>C, NM_021122.2:c.1904T>C, NM_001286712.1:c.1391T>C, NR_167698.1:n.2311T>C, NM_001381888.1:c.1757T>C, NR_167708.1:n.2186T>C, NM_001381886.1:c.1904T>C, NM_001381881.1:c.1904T>C, NM_001381889.1:c.1757T>C, NM_001381879.1:c.1904T>C, NM_001381880.1:c.1904T>C, NM_001381878.1:c.1904T>C, NM_001381885.1:c.1904T>C, NM_001381877.1:c.1904T>C, NM_001381887.1:c.1904T>C, NM_001381883.1:c.1904T>C, NR_167706.1:n.2035T>C, XM_047449819.1:c.1904T>C, NR_167705.1:n.1999T>C, NM_001381884.1:c.1904T>C, NR_167709.1:n.1973T>C, NM_001381882.1:c.1904T>C, NM_001381890.1:c.1712T>C, NR_167704.1:n.1772T>C, NR_167703.1:n.1762T>C, NR_167702.1:n.1762T>C, NM_021122.1:c.1904T>C, NP_001986.2:p.Leu635Pro, NP_001273637.1:p.Leu635Pro, XP_016863376.1:p.Leu635Pro, NP_001273639.1:p.Leu635Pro, NP_001273640.1:p.Leu601Pro, NP_001368817.1:p.Leu586Pro, NP_001368815.1:p.Leu635Pro, NP_001368810.1:p.Leu635Pro, NP_001368818.1:p.Leu586Pro, NP_001368808.1:p.Leu635Pro, NP_001368809.1:p.Leu635Pro, NP_001368807.1:p.Leu635Pro, NP_001368814.1:p.Leu635Pro, NP_001368806.1:p.Leu635Pro, NP_001368816.1:p.Leu635Pro, NP_001368812.1:p.Leu635Pro, XP_047305775.1:p.Leu635Pro, NP_001368813.1:p.Leu635Pro, NP_001368811.1:p.Leu635Pro, NP_001368819.1:p.Leu571Pro

                      11.

                      rs1471147610 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        4:184763180 (GRCh38)
                        4:185684334 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:184763179:T:G
                        Gene:
                        ACSL1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000004.12:g.184763180T>G, NC_000004.11:g.185684334T>G, NM_001995.5:c.1508A>C, NM_001995.4:c.1508A>C, NM_001995.3:c.1508A>C, NM_001995.2:c.1508A>C, NM_001286708.2:c.1508A>C, NM_001286708.1:c.1508A>C, XM_017007887.2:c.1508A>C, XM_017007887.1:c.1508A>C, NM_001286710.2:c.1508A>C, NM_001286710.1:c.1508A>C, NM_001286711.2:c.1406A>C, NM_001286711.1:c.1406A>C, NM_021122.2:c.1508A>C, NM_001286712.1:c.995A>C, NR_167698.1:n.1915A>C, NM_001381888.1:c.1361A>C, NR_167708.1:n.1790A>C, NM_001381886.1:c.1508A>C, NM_001381881.1:c.1508A>C, NM_001381889.1:c.1361A>C, NM_001381879.1:c.1508A>C, NM_001381880.1:c.1508A>C, NM_001381878.1:c.1508A>C, NM_001381885.1:c.1508A>C, NM_001381877.1:c.1508A>C, NM_001381887.1:c.1508A>C, NM_001381883.1:c.1508A>C, NR_167706.1:n.1639A>C, XM_047449819.1:c.1508A>C, NR_167705.1:n.1603A>C, NM_001381884.1:c.1508A>C, NR_167709.1:n.1577A>C, NM_001381882.1:c.1508A>C, NM_001381890.1:c.1316A>C, NR_167704.1:n.1376A>C, NR_167703.1:n.1366A>C, NR_167702.1:n.1366A>C, NM_021122.1:c.1508A>C, NP_001986.2:p.Glu503Ala, NP_001273637.1:p.Glu503Ala, XP_016863376.1:p.Glu503Ala, NP_001273639.1:p.Glu503Ala, NP_001273640.1:p.Glu469Ala, NP_001368817.1:p.Glu454Ala, NP_001368815.1:p.Glu503Ala, NP_001368810.1:p.Glu503Ala, NP_001368818.1:p.Glu454Ala, NP_001368808.1:p.Glu503Ala, NP_001368809.1:p.Glu503Ala, NP_001368807.1:p.Glu503Ala, NP_001368814.1:p.Glu503Ala, NP_001368806.1:p.Glu503Ala, NP_001368816.1:p.Glu503Ala, NP_001368812.1:p.Glu503Ala, XP_047305775.1:p.Glu503Ala, NP_001368813.1:p.Glu503Ala, NP_001368811.1:p.Glu503Ala, NP_001368819.1:p.Glu439Ala

                        12.

                        rs1469511154 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C,G [Show Flanks]
                          Chromosome:
                          4:184776512 (GRCh38)
                          4:185697666 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:184776511:A:C,NC_000004.12:184776511:A:G
                          Gene:
                          ACSL1 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          C=0.00437/8 (Korea1K)
                          HGVS:
                          NC_000004.12:g.184776512A>C, NC_000004.12:g.184776512A>G, NC_000004.11:g.185697666A>C, NC_000004.11:g.185697666A>G, NM_001995.5:c.728T>G, NM_001995.5:c.728T>C, NM_001995.4:c.728T>G, NM_001995.4:c.728T>C, NM_001995.3:c.728T>G, NM_001995.3:c.728T>C, NM_001995.2:c.728T>G, NM_001995.2:c.728T>C, NM_001286708.2:c.728T>G, NM_001286708.2:c.728T>C, NM_001286708.1:c.728T>G, NM_001286708.1:c.728T>C, XM_017007887.2:c.728T>G, XM_017007887.2:c.728T>C, XM_017007887.1:c.728T>G, XM_017007887.1:c.728T>C, NM_001286710.2:c.728T>G, NM_001286710.2:c.728T>C, NM_001286710.1:c.728T>G, NM_001286710.1:c.728T>C, NM_001286711.2:c.626T>G, NM_001286711.2:c.626T>C, NM_001286711.1:c.626T>G, NM_001286711.1:c.626T>C, NM_021122.2:c.728T>G, NM_021122.2:c.728T>C, NM_001286712.1:c.215T>G, NM_001286712.1:c.215T>C, NR_167698.1:n.1135T>G, NR_167698.1:n.1135T>C, NM_001381888.1:c.581T>G, NM_001381888.1:c.581T>C, NR_167708.1:n.1010T>G, NR_167708.1:n.1010T>C, NM_001381886.1:c.728T>G, NM_001381886.1:c.728T>C, NM_001381881.1:c.728T>G, NM_001381881.1:c.728T>C, NM_001381889.1:c.581T>G, NM_001381889.1:c.581T>C, NM_001381879.1:c.728T>G, NM_001381879.1:c.728T>C, NM_001381880.1:c.728T>G, NM_001381880.1:c.728T>C, NM_001381878.1:c.728T>G, NM_001381878.1:c.728T>C, NM_001381885.1:c.728T>G, NM_001381885.1:c.728T>C, NM_001381877.1:c.728T>G, NM_001381877.1:c.728T>C, NM_001381887.1:c.728T>G, NM_001381887.1:c.728T>C, NM_001381883.1:c.728T>G, NM_001381883.1:c.728T>C, NR_167706.1:n.813T>G, NR_167706.1:n.813T>C, XM_047449819.1:c.728T>G, XM_047449819.1:c.728T>C, NR_167705.1:n.823T>G, NR_167705.1:n.823T>C, NM_001381884.1:c.728T>G, NM_001381884.1:c.728T>C, NR_167709.1:n.797T>G, NR_167709.1:n.797T>C, NM_001381882.1:c.728T>G, NM_001381882.1:c.728T>C, NM_001381890.1:c.536T>G, NM_001381890.1:c.536T>C, NR_167704.1:n.596T>G, NR_167704.1:n.596T>C, NR_167703.1:n.586T>G, NR_167703.1:n.586T>C, NR_167702.1:n.586T>G, NR_167702.1:n.586T>C, NM_021122.1:c.728T>G, NM_021122.1:c.728T>C, NP_001986.2:p.Val243Gly, NP_001986.2:p.Val243Ala, NP_001273637.1:p.Val243Gly, NP_001273637.1:p.Val243Ala, XP_016863376.1:p.Val243Gly, XP_016863376.1:p.Val243Ala, NP_001273639.1:p.Val243Gly, NP_001273639.1:p.Val243Ala, NP_001273640.1:p.Val209Gly, NP_001273640.1:p.Val209Ala, NP_001368817.1:p.Val194Gly, NP_001368817.1:p.Val194Ala, NP_001368815.1:p.Val243Gly, NP_001368815.1:p.Val243Ala, NP_001368810.1:p.Val243Gly, NP_001368810.1:p.Val243Ala, NP_001368818.1:p.Val194Gly, NP_001368818.1:p.Val194Ala, NP_001368808.1:p.Val243Gly, NP_001368808.1:p.Val243Ala, NP_001368809.1:p.Val243Gly, NP_001368809.1:p.Val243Ala, NP_001368807.1:p.Val243Gly, NP_001368807.1:p.Val243Ala, NP_001368814.1:p.Val243Gly, NP_001368814.1:p.Val243Ala, NP_001368806.1:p.Val243Gly, NP_001368806.1:p.Val243Ala, NP_001368816.1:p.Val243Gly, NP_001368816.1:p.Val243Ala, NP_001368812.1:p.Val243Gly, NP_001368812.1:p.Val243Ala, XP_047305775.1:p.Val243Gly, XP_047305775.1:p.Val243Ala, NP_001368813.1:p.Val243Gly, NP_001368813.1:p.Val243Ala, NP_001368811.1:p.Val243Gly, NP_001368811.1:p.Val243Ala, NP_001368819.1:p.Val179Gly, NP_001368819.1:p.Val179Ala

                          13.

                          rs1468473952 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            4:184768335 (GRCh38)
                            4:185689489 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:184768334:A:G
                            Gene:
                            ACSL1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000004.12:g.184768335A>G, NC_000004.11:g.185689489A>G, NM_001995.5:c.1109T>C, NM_001995.4:c.1109T>C, NM_001995.3:c.1109T>C, NM_001995.2:c.1109T>C, NM_001286708.2:c.1109T>C, NM_001286708.1:c.1109T>C, XM_017007887.2:c.1109T>C, XM_017007887.1:c.1109T>C, NM_001286710.2:c.1109T>C, NM_001286710.1:c.1109T>C, NM_001286711.2:c.1007T>C, NM_001286711.1:c.1007T>C, NM_021122.2:c.1109T>C, NM_001286712.1:c.596T>C, NR_167698.1:n.1516T>C, NM_001381888.1:c.962T>C, NR_167708.1:n.1391T>C, NM_001381886.1:c.1109T>C, NM_001381881.1:c.1109T>C, NM_001381889.1:c.962T>C, NM_001381879.1:c.1109T>C, NM_001381880.1:c.1109T>C, NM_001381878.1:c.1109T>C, NM_001381885.1:c.1109T>C, NM_001381877.1:c.1109T>C, NM_001381887.1:c.1109T>C, NM_001381883.1:c.1109T>C, NR_167706.1:n.1240T>C, XM_047449819.1:c.1109T>C, NR_167705.1:n.1204T>C, NM_001381884.1:c.1109T>C, NR_167709.1:n.1178T>C, NM_001381882.1:c.1109T>C, NM_001381890.1:c.917T>C, NR_167704.1:n.977T>C, NR_167703.1:n.967T>C, NR_167702.1:n.967T>C, NM_021122.1:c.1109T>C, NP_001986.2:p.Leu370Pro, NP_001273637.1:p.Leu370Pro, XP_016863376.1:p.Leu370Pro, NP_001273639.1:p.Leu370Pro, NP_001273640.1:p.Leu336Pro, NP_001368817.1:p.Leu321Pro, NP_001368815.1:p.Leu370Pro, NP_001368810.1:p.Leu370Pro, NP_001368818.1:p.Leu321Pro, NP_001368808.1:p.Leu370Pro, NP_001368809.1:p.Leu370Pro, NP_001368807.1:p.Leu370Pro, NP_001368814.1:p.Leu370Pro, NP_001368806.1:p.Leu370Pro, NP_001368816.1:p.Leu370Pro, NP_001368812.1:p.Leu370Pro, XP_047305775.1:p.Leu370Pro, NP_001368813.1:p.Leu370Pro, NP_001368811.1:p.Leu370Pro, NP_001368819.1:p.Leu306Pro

                            14.

                            rs1466631338 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              4:184765902 (GRCh38)
                              4:185687056 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:184765901:G:T
                              Gene:
                              ACSL1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000004.12:g.184765902G>T, NC_000004.11:g.185687056G>T, NM_001995.5:c.1348C>A, NM_001995.4:c.1348C>A, NM_001995.3:c.1348C>A, NM_001995.2:c.1348C>A, NM_001286708.2:c.1348C>A, NM_001286708.1:c.1348C>A, XM_017007887.2:c.1348C>A, XM_017007887.1:c.1348C>A, NM_001286710.2:c.1348C>A, NM_001286710.1:c.1348C>A, NM_001286711.2:c.1246C>A, NM_001286711.1:c.1246C>A, NM_021122.2:c.1348C>A, NM_001286712.1:c.835C>A, NR_167698.1:n.1755C>A, NM_001381888.1:c.1201C>A, NR_167708.1:n.1630C>A, NM_001381886.1:c.1348C>A, NM_001381881.1:c.1348C>A, NM_001381889.1:c.1201C>A, NM_001381879.1:c.1348C>A, NM_001381880.1:c.1348C>A, NM_001381878.1:c.1348C>A, NM_001381885.1:c.1348C>A, NM_001381877.1:c.1348C>A, NM_001381887.1:c.1348C>A, NM_001381883.1:c.1348C>A, NR_167706.1:n.1479C>A, XM_047449819.1:c.1348C>A, NR_167705.1:n.1443C>A, NM_001381884.1:c.1348C>A, NR_167709.1:n.1417C>A, NM_001381882.1:c.1348C>A, NM_001381890.1:c.1156C>A, NR_167704.1:n.1216C>A, NR_167703.1:n.1206C>A, NR_167702.1:n.1206C>A, NM_021122.1:c.1348C>A, NP_001986.2:p.Leu450Met, NP_001273637.1:p.Leu450Met, XP_016863376.1:p.Leu450Met, NP_001273639.1:p.Leu450Met, NP_001273640.1:p.Leu416Met, NP_001368817.1:p.Leu401Met, NP_001368815.1:p.Leu450Met, NP_001368810.1:p.Leu450Met, NP_001368818.1:p.Leu401Met, NP_001368808.1:p.Leu450Met, NP_001368809.1:p.Leu450Met, NP_001368807.1:p.Leu450Met, NP_001368814.1:p.Leu450Met, NP_001368806.1:p.Leu450Met, NP_001368816.1:p.Leu450Met, NP_001368812.1:p.Leu450Met, XP_047305775.1:p.Leu450Met, NP_001368813.1:p.Leu450Met, NP_001368811.1:p.Leu450Met, NP_001368819.1:p.Leu386Met

                              15.

                              rs1461209620 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                4:184764898 (GRCh38)
                                4:185686052 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:184764897:A:G
                                Gene:
                                ACSL1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000004.12:g.184764898A>G, NC_000004.11:g.185686052A>G, NM_001995.5:c.1387T>C, NM_001995.4:c.1387T>C, NM_001995.3:c.1387T>C, NM_001995.2:c.1387T>C, NM_001286708.2:c.1387T>C, NM_001286708.1:c.1387T>C, XM_017007887.2:c.1387T>C, XM_017007887.1:c.1387T>C, NM_001286710.2:c.1387T>C, NM_001286710.1:c.1387T>C, NM_001286711.2:c.1285T>C, NM_001286711.1:c.1285T>C, NM_021122.2:c.1387T>C, NM_001286712.1:c.874T>C, NR_167698.1:n.1794T>C, NM_001381888.1:c.1240T>C, NR_167708.1:n.1669T>C, NM_001381886.1:c.1387T>C, NM_001381881.1:c.1387T>C, NM_001381889.1:c.1240T>C, NM_001381879.1:c.1387T>C, NM_001381880.1:c.1387T>C, NM_001381878.1:c.1387T>C, NM_001381885.1:c.1387T>C, NM_001381877.1:c.1387T>C, NM_001381887.1:c.1387T>C, NM_001381883.1:c.1387T>C, NR_167706.1:n.1518T>C, XM_047449819.1:c.1387T>C, NR_167705.1:n.1482T>C, NM_001381884.1:c.1387T>C, NR_167709.1:n.1456T>C, NM_001381882.1:c.1387T>C, NM_001381890.1:c.1195T>C, NR_167704.1:n.1255T>C, NR_167703.1:n.1245T>C, NR_167702.1:n.1245T>C, NM_021122.1:c.1387T>C, NP_001986.2:p.Cys463Arg, NP_001273637.1:p.Cys463Arg, XP_016863376.1:p.Cys463Arg, NP_001273639.1:p.Cys463Arg, NP_001273640.1:p.Cys429Arg, NP_001368817.1:p.Cys414Arg, NP_001368815.1:p.Cys463Arg, NP_001368810.1:p.Cys463Arg, NP_001368818.1:p.Cys414Arg, NP_001368808.1:p.Cys463Arg, NP_001368809.1:p.Cys463Arg, NP_001368807.1:p.Cys463Arg, NP_001368814.1:p.Cys463Arg, NP_001368806.1:p.Cys463Arg, NP_001368816.1:p.Cys463Arg, NP_001368812.1:p.Cys463Arg, XP_047305775.1:p.Cys463Arg, NP_001368813.1:p.Cys463Arg, NP_001368811.1:p.Cys463Arg, NP_001368819.1:p.Cys399Arg

                                16.

                                rs1460153108 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  4:184788685 (GRCh38)
                                  4:185709839 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:184788684:G:A
                                  Gene:
                                  ACSL1 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000004.12:g.184788685G>A, NC_000004.11:g.185709839G>A, NM_001995.5:c.242C>T, NM_001995.4:c.242C>T, NM_001995.3:c.242C>T, NM_001995.2:c.242C>T, NM_001286708.2:c.242C>T, NM_001286708.1:c.242C>T, XM_017007887.2:c.242C>T, XM_017007887.1:c.242C>T, NM_001286710.2:c.242C>T, NM_001286710.1:c.242C>T, NM_001286711.2:c.242C>T, NM_001286711.1:c.242C>T, NM_021122.2:c.242C>T, NM_001286712.1:c.-407C>T, NR_167698.1:n.514C>T, NM_001381888.1:c.-15C>T, NR_167708.1:n.514C>T, NM_001381886.1:c.242C>T, NM_001381881.1:c.242C>T, NM_001381889.1:c.-15C>T, NM_001381879.1:c.242C>T, NM_001381880.1:c.242C>T, NM_001381878.1:c.242C>T, NM_001381885.1:c.242C>T, NM_001381877.1:c.242C>T, NM_001381887.1:c.242C>T, NM_001381883.1:c.242C>T, NR_167706.1:n.327C>T, XM_047449819.1:c.242C>T, NR_167705.1:n.327C>T, NM_001381884.1:c.242C>T, NR_167709.1:n.301C>T, NM_001381882.1:c.242C>T, NM_001381890.1:c.50C>T, NR_167704.1:n.100C>T, NR_167703.1:n.100C>T, NR_167702.1:n.100C>T, NM_021122.1:c.242C>T, NP_001986.2:p.Pro81Leu, NP_001273637.1:p.Pro81Leu, XP_016863376.1:p.Pro81Leu, NP_001273639.1:p.Pro81Leu, NP_001273640.1:p.Pro81Leu, NP_001368815.1:p.Pro81Leu, NP_001368810.1:p.Pro81Leu, NP_001368808.1:p.Pro81Leu, NP_001368809.1:p.Pro81Leu, NP_001368807.1:p.Pro81Leu, NP_001368814.1:p.Pro81Leu, NP_001368806.1:p.Pro81Leu, NP_001368816.1:p.Pro81Leu, NP_001368812.1:p.Pro81Leu, XP_047305775.1:p.Pro81Leu, NP_001368813.1:p.Pro81Leu, NP_001368811.1:p.Pro81Leu, NP_001368819.1:p.Pro17Leu

                                  17.

                                  rs1457788696 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    4:184757846 (GRCh38)
                                    4:185679000 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:184757845:C:A
                                    Gene:
                                    ACSL1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000004.12:g.184757846C>A, NC_000004.11:g.185679000C>A, NM_001995.5:c.1857G>T, NM_001995.4:c.1857G>T, NM_001995.3:c.1857G>T, NM_001995.2:c.1857G>T, NM_001286708.2:c.1857G>T, NM_001286708.1:c.1857G>T, XM_017007887.2:c.1857G>T, XM_017007887.1:c.1857G>T, NM_001286710.2:c.1857G>T, NM_001286710.1:c.1857G>T, NM_001286711.2:c.1755G>T, NM_001286711.1:c.1755G>T, NM_021122.2:c.1857G>T, NM_001286712.1:c.1344G>T, NR_167698.1:n.2264G>T, NM_001381888.1:c.1710G>T, NR_167708.1:n.2139G>T, NM_001381886.1:c.1857G>T, NM_001381881.1:c.1857G>T, NM_001381889.1:c.1710G>T, NM_001381879.1:c.1857G>T, NM_001381880.1:c.1857G>T, NM_001381878.1:c.1857G>T, NM_001381885.1:c.1857G>T, NM_001381877.1:c.1857G>T, NM_001381887.1:c.1857G>T, NM_001381883.1:c.1857G>T, NR_167706.1:n.1988G>T, XM_047449819.1:c.1857G>T, NR_167705.1:n.1952G>T, NM_001381884.1:c.1857G>T, NR_167709.1:n.1926G>T, NM_001381882.1:c.1857G>T, NM_001381890.1:c.1665G>T, NR_167704.1:n.1725G>T, NR_167703.1:n.1715G>T, NR_167702.1:n.1715G>T, NM_021122.1:c.1857G>T

                                    18.

                                    rs1456276539 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      4:184757699 (GRCh38)
                                      4:185678853 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:184757698:T:C
                                      Gene:
                                      ACSL1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      C=0.000011/3 (TOPMED)
                                      C=0.000021/3 (GnomAD)
                                      HGVS:
                                      NC_000004.12:g.184757699T>C, NC_000004.11:g.185678853T>C, NM_001995.5:c.1892A>G, NM_001995.4:c.1892A>G, NM_001995.3:c.1892A>G, NM_001995.2:c.1892A>G, NM_001286708.2:c.1892A>G, NM_001286708.1:c.1892A>G, XM_017007887.2:c.1892A>G, XM_017007887.1:c.1892A>G, NM_001286710.2:c.1892A>G, NM_001286710.1:c.1892A>G, NM_001286711.2:c.1790A>G, NM_001286711.1:c.1790A>G, NM_021122.2:c.1892A>G, NM_001286712.1:c.1379A>G, NR_167698.1:n.2299A>G, NM_001381888.1:c.1745A>G, NR_167708.1:n.2174A>G, NM_001381886.1:c.1892A>G, NM_001381881.1:c.1892A>G, NM_001381889.1:c.1745A>G, NM_001381879.1:c.1892A>G, NM_001381880.1:c.1892A>G, NM_001381878.1:c.1892A>G, NM_001381885.1:c.1892A>G, NM_001381877.1:c.1892A>G, NM_001381887.1:c.1892A>G, NM_001381883.1:c.1892A>G, NR_167706.1:n.2023A>G, XM_047449819.1:c.1892A>G, NR_167705.1:n.1987A>G, NM_001381884.1:c.1892A>G, NR_167709.1:n.1961A>G, NM_001381882.1:c.1892A>G, NM_001381890.1:c.1700A>G, NR_167704.1:n.1760A>G, NR_167703.1:n.1750A>G, NR_167702.1:n.1750A>G, NM_021122.1:c.1892A>G, NP_001986.2:p.Lys631Arg, NP_001273637.1:p.Lys631Arg, XP_016863376.1:p.Lys631Arg, NP_001273639.1:p.Lys631Arg, NP_001273640.1:p.Lys597Arg, NP_001368817.1:p.Lys582Arg, NP_001368815.1:p.Lys631Arg, NP_001368810.1:p.Lys631Arg, NP_001368818.1:p.Lys582Arg, NP_001368808.1:p.Lys631Arg, NP_001368809.1:p.Lys631Arg, NP_001368807.1:p.Lys631Arg, NP_001368814.1:p.Lys631Arg, NP_001368806.1:p.Lys631Arg, NP_001368816.1:p.Lys631Arg, NP_001368812.1:p.Lys631Arg, XP_047305775.1:p.Lys631Arg, NP_001368813.1:p.Lys631Arg, NP_001368811.1:p.Lys631Arg, NP_001368819.1:p.Lys567Arg

                                      19.

                                      rs1455719482 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        4:184773866 (GRCh38)
                                        4:185695020 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:184773865:T:C
                                        Gene:
                                        ACSL1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,coding_sequence_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_000004.12:g.184773866T>C, NC_000004.11:g.185695020T>C, NM_001995.5:c.766A>G, NM_001995.4:c.766A>G, NM_001995.3:c.766A>G, NM_001995.2:c.766A>G, NM_001286708.2:c.766A>G, NM_001286708.1:c.766A>G, XM_017007887.2:c.766A>G, XM_017007887.1:c.766A>G, NM_001286710.2:c.766A>G, NM_001286710.1:c.766A>G, NM_001286711.2:c.664A>G, NM_001286711.1:c.664A>G, NM_021122.2:c.766A>G, NM_001286712.1:c.253A>G, NR_167698.1:n.1173A>G, NM_001381888.1:c.619A>G, NR_167708.1:n.1048A>G, NM_001381886.1:c.766A>G, NM_001381881.1:c.766A>G, NM_001381889.1:c.619A>G, NM_001381879.1:c.766A>G, NM_001381880.1:c.766A>G, NM_001381878.1:c.766A>G, NM_001381885.1:c.766A>G, NM_001381877.1:c.766A>G, NM_001381887.1:c.766A>G, NM_001381883.1:c.766A>G, NR_167706.1:n.897A>G, XM_047449819.1:c.766A>G, NR_167705.1:n.861A>G, NM_001381884.1:c.766A>G, NR_167709.1:n.835A>G, NM_001381882.1:c.766A>G, NM_001381890.1:c.574A>G, NR_167704.1:n.634A>G, NR_167703.1:n.624A>G, NR_167702.1:n.624A>G, NM_021122.1:c.766A>G, NP_001986.2:p.Arg256Gly, NP_001273637.1:p.Arg256Gly, XP_016863376.1:p.Arg256Gly, NP_001273639.1:p.Arg256Gly, NP_001273640.1:p.Arg222Gly, NP_001368817.1:p.Arg207Gly, NP_001368815.1:p.Arg256Gly, NP_001368810.1:p.Arg256Gly, NP_001368818.1:p.Arg207Gly, NP_001368808.1:p.Arg256Gly, NP_001368809.1:p.Arg256Gly, NP_001368807.1:p.Arg256Gly, NP_001368814.1:p.Arg256Gly, NP_001368806.1:p.Arg256Gly, NP_001368816.1:p.Arg256Gly, NP_001368812.1:p.Arg256Gly, XP_047305775.1:p.Arg256Gly, NP_001368813.1:p.Arg256Gly, NP_001368811.1:p.Arg256Gly, NP_001368819.1:p.Arg192Gly

                                        20.

                                        rs1454075824 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          4:184766665 (GRCh38)
                                          4:185687819 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:184766664:C:T
                                          Gene:
                                          ACSL1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000004.12:g.184766665C>T, NC_000004.11:g.185687819C>T, NM_001995.5:c.1220G>A, NM_001995.4:c.1220G>A, NM_001995.3:c.1220G>A, NM_001995.2:c.1220G>A, NM_001286708.2:c.1220G>A, NM_001286708.1:c.1220G>A, XM_017007887.2:c.1220G>A, XM_017007887.1:c.1220G>A, NM_001286710.2:c.1220G>A, NM_001286710.1:c.1220G>A, NM_001286711.2:c.1118G>A, NM_001286711.1:c.1118G>A, NM_021122.2:c.1220G>A, NM_001286712.1:c.707G>A, NR_167698.1:n.1627G>A, NM_001381888.1:c.1073G>A, NR_167708.1:n.1502G>A, NM_001381886.1:c.1220G>A, NM_001381881.1:c.1220G>A, NM_001381889.1:c.1073G>A, NM_001381879.1:c.1220G>A, NM_001381880.1:c.1220G>A, NM_001381878.1:c.1220G>A, NM_001381885.1:c.1220G>A, NM_001381877.1:c.1220G>A, NM_001381887.1:c.1220G>A, NM_001381883.1:c.1220G>A, NR_167706.1:n.1351G>A, XM_047449819.1:c.1220G>A, NR_167705.1:n.1315G>A, NM_001381884.1:c.1220G>A, NR_167709.1:n.1289G>A, NM_001381882.1:c.1220G>A, NM_001381890.1:c.1028G>A, NR_167704.1:n.1088G>A, NR_167703.1:n.1078G>A, NR_167702.1:n.1078G>A, NM_021122.1:c.1220G>A, NP_001986.2:p.Arg407Lys, NP_001273637.1:p.Arg407Lys, XP_016863376.1:p.Arg407Lys, NP_001273639.1:p.Arg407Lys, NP_001273640.1:p.Arg373Lys, NP_001368817.1:p.Arg358Lys, NP_001368815.1:p.Arg407Lys, NP_001368810.1:p.Arg407Lys, NP_001368818.1:p.Arg358Lys, NP_001368808.1:p.Arg407Lys, NP_001368809.1:p.Arg407Lys, NP_001368807.1:p.Arg407Lys, NP_001368814.1:p.Arg407Lys, NP_001368806.1:p.Arg407Lys, NP_001368816.1:p.Arg407Lys, NP_001368812.1:p.Arg407Lys, XP_047305775.1:p.Arg407Lys, NP_001368813.1:p.Arg407Lys, NP_001368811.1:p.Arg407Lys, NP_001368819.1:p.Arg343Lys

                                          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...