Canonical Allele Identifier: CA354493249
Community Standard Title: NM_052989.3(IFT122):c.3726A>G (p.Ter1242Trp)
Gene: IFT122 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129520265A>G , CM000665.2:g.129520265A>G GRCh38
NC_000003.11:g.129239108A>G , CM000665.1:g.129239108A>G GRCh37
NC_000003.10:g.130721798A>G NCBI36
NG_023392.1:g.85141A>G

Transcript Alleles

HGVS Amino-acid Change
NM_052989.3:c.3726A>G MANE Select NP_443715.1:p.Ter1242Trp
ENST00000348417.7:c.3726A>G MANE Select ENSP00000324005.4:p.Ter1242Trp
NM_001280541.1:c.3705A>G NP_001267470.1:p.Ter1235Trp
NM_001280541.2:c.3705A>G NP_001267470.1:p.Ter1235Trp
NM_001280545.1:c.3276A>G NP_001267474.1:p.Ter1092Trp
NM_001280545.2:c.3276A>G NP_001267474.1:p.Ter1092Trp
NM_001280546.1:c.3099A>G NP_001267475.1:p.Ter1033Trp
NM_001280546.2:c.3099A>G NP_001267475.1:p.Ter1033Trp
NM_018262.3:c.3549A>G NP_060732.2:p.Ter1183Trp
NM_018262.4:c.3549A>G NP_060732.2:p.Ter1183Trp
NM_052985.3:c.3879A>G NP_443711.2:p.Ter1293Trp
NM_052985.4:c.3879A>G NP_443711.2:p.Ter1293Trp
NM_052989.2:c.3726A>G NP_443715.1:p.Ter1242Trp
NM_052990.2:c.3396A>G NP_443716.1:p.Ter1132Trp
NM_052990.3:c.3396A>G NP_443716.1:p.Ter1132Trp
ENST00000296266.7:c.3879A>G ENSP00000296266.3:p.Ter1293Trp
ENST00000347300.6:c.3549A>G ENSP00000323973.3:p.Ter1183Trp
ENST00000348417.6:c.3726A>G ENSP00000324005.3:p.Ter1242Trp
ENST00000349441.6:c.3396A>G ENSP00000324165.3:p.Ter1132Trp
ENST00000431818.6:c.3276A>G ENSP00000410946.2:p.Ter1092Trp
ENST00000431818.8:c.*2988A>G ENSP00000410946.3:n.*2988A>G
ENST00000440957.6:c.3099A>G ENSP00000401569.2:p.Ter1033Trp
ENST00000440957.7:c.*3047A>G ENSP00000401569.3:n.*3047A>G
ENST00000504021.5:c.3357A>G ENSP00000422179.1:p.Ter1119Trp
ENST00000504021.6:c.3342A>G ENSP00000422179.2:p.Ter1114Trp
ENST00000504444.2:n.3112A>G
ENST00000506507.5:n.4442A>G
ENST00000507221.2:c.1812A>G ENSP00000427515.2:p.Ter604Trp
ENST00000507564.5:c.3705A>G ENSP00000425536.1:p.Ter1235Trp
ENST00000511425.5:n.2135A>G
ENST00000512220.5:c.*3634A>G ENSP00000421953.1:n.*3634A>G
ENST00000513190.1:n.2770A>G
ENST00000513932.2:n.2019A>G
ENST00000515783.6:c.3231A>G ENSP00000423288.2:p.Ter1077Trp
ENST00000685087.1:c.*286A>G ENSP00000509245.1:n.*286A>G
ENST00000685122.1:c.1815A>G ENSP00000510278.1:p.Ter605Trp
ENST00000685189.1:c.*3457A>G ENSP00000510418.1:n.*3457A>G
ENST00000685282.1:c.*944A>G ENSP00000508642.1:n.*944A>G
ENST00000685447.1:c.*846A>G ENSP00000509155.1:n.*846A>G
ENST00000685512.1:n.4529A>G
ENST00000685621.1:n.2907A>G
ENST00000685811.1:n.4467A>G
ENST00000685921.1:c.3438A>G ENSP00000509914.1:p.Ter1146Trp
ENST00000685939.1:c.*2146A>G ENSP00000509414.1:n.*2146A>G
ENST00000686375.1:c.*2167A>G ENSP00000510777.1:n.*2167A>G
ENST00000686473.1:c.3384A>G ENSP00000508526.1:p.Ter1128Trp
ENST00000686531.1:c.3330A>G ENSP00000510570.1:p.Ter1110Trp
ENST00000686614.1:n.2442A>G
ENST00000686830.1:c.3387A>G ENSP00000510002.1:p.Ter1129Trp
ENST00000687377.1:c.3675A>G ENSP00000509225.1:p.Ter1225Trp
ENST00000687398.1:c.*3184A>G ENSP00000510191.1:n.*3184A>G
ENST00000687461.1:n.4088A>G
ENST00000687645.1:c.*667A>G ENSP00000510672.1:n.*667A>G
ENST00000687766.1:c.*1318A>G ENSP00000509886.1:n.*1318A>G
ENST00000687791.1:c.*811A>G ENSP00000509224.1:n.*811A>G
ENST00000687845.1:c.3236A>G ENSP00000508687.1:n.3236A>G
ENST00000688020.1:c.3570A>G ENSP00000508904.1:p.Ter1190Trp
ENST00000688129.1:c.*3328A>G ENSP00000509382.1:n.*3328A>G
ENST00000688266.1:n.3239A>G
ENST00000688392.1:n.4140A>G
ENST00000688504.1:n.4625A>G
ENST00000688527.1:c.1869A>G ENSP00000508740.1:p.Ter623Trp
ENST00000688657.1:c.1704A>G ENSP00000508933.1:p.Ter568Trp
ENST00000688664.1:c.*2974A>G ENSP00000510359.1:n.*2974A>G
ENST00000689005.1:c.3249A>G ENSP00000510168.1:p.Ter1083Trp
ENST00000689313.1:c.3702A>G ENSP00000509012.1:p.Ter1234Trp
ENST00000689332.1:c.3552A>G ENSP00000510425.1:p.Ter1184Trp
ENST00000689384.1:n.4293A>G
ENST00000689492.1:c.3402A>G ENSP00000510239.1:p.Ter1134Trp
ENST00000689643.1:c.3740A>G ENSP00000509801.1:p.Asp1247Gly
ENST00000689796.1:c.3390A>G ENSP00000509716.1:p.Ter1130Trp
ENST00000689801.1:c.3498A>G ENSP00000509982.1:p.Ter1166Trp
ENST00000689871.1:c.*642A>G ENSP00000510412.1:n.*642A>G
ENST00000689884.1:n.2713A>G
ENST00000690617.1:n.3663A>G
ENST00000690657.1:c.1866A>G ENSP00000510699.1:p.Ter622Trp
ENST00000690663.1:c.3339A>G ENSP00000509297.1:p.Ter1113Trp
ENST00000690677.1:c.*3008A>G ENSP00000510036.1:n.*3008A>G
ENST00000690723.1:c.*811A>G ENSP00000508811.1:n.*811A>G
ENST00000690800.1:n.649A>G
ENST00000690862.1:c.*365A>G ENSP00000509210.1:n.*365A>G
ENST00000691148.1:n.4193A>G
ENST00000691360.1:c.*3152A>G ENSP00000510040.1:n.*3152A>G
ENST00000691583.1:c.3495A>G ENSP00000510741.1:p.Ter1165Trp
ENST00000691641.1:c.*3274A>G ENSP00000509350.1:n.*3274A>G
ENST00000691705.1:c.*286A>G ENSP00000510077.1:n.*286A>G
ENST00000691733.1:c.3563A>G ENSP00000509735.1:p.Asp1188Gly
ENST00000691770.1:c.*1078A>G ENSP00000510126.1:n.*1078A>G
ENST00000691964.1:c.3492A>G ENSP00000509094.1:p.Ter1164Trp
ENST00000692228.1:c.*2623A>G ENSP00000508464.1:n.*2623A>G
ENST00000692242.1:c.3729A>G ENSP00000509878.1:p.Ter1243Trp
ENST00000692321.1:c.3045A>G ENSP00000508614.1:p.Ter1015Trp
ENST00000692391.1:c.*737A>G ENSP00000509211.1:n.*737A>G
ENST00000692508.1:n.4373A>G
ENST00000692728.1:c.3045A>G ENSP00000510105.1:p.Ter1015Trp
ENST00000692901.1:c.3318A>G ENSP00000510339.1:p.Ter1106Trp
ENST00000692929.1:n.2580A>G
ENST00000692985.1:c.*3266A>G ENSP00000510460.1:n.*3266A>G
ENST00000693114.1:c.*2563A>G ENSP00000508738.1:n.*2563A>G
ENST00000693129.1:c.3672A>G ENSP00000509806.1:p.Ter1224Trp
ENST00000693162.1:c.*737A>G ENSP00000509103.1:n.*737A>G
ENST00000693233.1:c.3099A>G ENSP00000509186.1:p.Ter1033Trp
ENST00000693489.1:c.3663A>G ENSP00000509656.1:p.Ter1221Trp
ENST00000693588.1:c.3393A>G ENSP00000509216.1:p.Ter1131Trp
ENST00000693654.1:n.3963A>G
XM_005247609.1:c.3552A>G XP_005247666.1:p.Ter1184Trp
XM_005247609.2:c.3552A>G XP_005247666.1:p.Ter1184Trp
XM_006713689.1:c.3729A>G XP_006713752.1:p.Ter1243Trp
XM_006713689.2:c.3729A>G XP_006713752.1:p.Ter1243Trp
XM_006713691.2:c.3675A>G XP_006713754.1:p.Ter1225Trp
XM_006713691.3:c.3675A>G XP_006713754.1:p.Ter1225Trp
XM_006713692.2:c.3498A>G XP_006713755.1:p.Ter1166Trp
XM_006713692.3:c.3498A>G XP_006713755.1:p.Ter1166Trp
XM_011512967.1:c.3573A>G XP_011511269.1:p.Ter1191Trp
XM_011512968.1:c.3279A>G XP_011511270.1:p.Ter1093Trp
XM_011512969.1:c.3279A>G XP_011511271.1:p.Ter1093Trp
XM_011512970.1:c.3279A>G XP_011511272.1:p.Ter1093Trp
XM_011512971.1:c.3102A>G XP_011511273.1:p.Ter1034Trp
XM_011512973.1:c.2325A>G XP_011511275.1:p.Ter775Trp
XM_017006817.2:c.*365A>G XP_016862306.1:n.*365A>G
XM_017006818.2:c.*365A>G XP_016862307.1:n.*365A>G
XM_017006819.2:c.*365A>G XP_016862308.1:n.*365A>G
XM_017006820.2:c.*365A>G XP_016862309.1:n.*365A>G
XM_017006821.2:c.3672A>G XP_016862310.1:p.Ter1224Trp
XM_017006822.2:c.*365A>G XP_016862311.1:n.*365A>G
XM_017006823.2:c.*365A>G XP_016862312.1:n.*365A>G
XM_017006824.2:c.*365A>G XP_016862313.1:n.*365A>G
XM_017006825.2:c.*365A>G XP_016862314.1:n.*365A>G
XM_017006826.2:c.*365A>G XP_016862315.1:n.*365A>G
XM_017006827.2:c.3495A>G XP_016862316.1:p.Ter1165Trp
XM_017006828.2:c.*365A>G XP_016862317.1:n.*365A>G
XM_017006829.2:c.3393A>G XP_016862318.1:p.Ter1131Trp
XM_017006830.2:c.*365A>G XP_016862319.1:n.*365A>G
XM_017006831.1:c.*365A>G XP_016862320.1:n.*365A>G
XM_017006832.1:c.*365A>G XP_016862321.1:n.*365A>G
XM_017006833.2:c.3342A>G XP_016862322.1:p.Ter1114Trp
XM_017006834.2:c.3339A>G XP_016862323.1:p.Ter1113Trp
XM_017006835.1:c.*365A>G XP_016862324.1:n.*365A>G
XM_017006836.2:c.3048A>G XP_016862325.1:p.Ter1016Trp
XM_017006837.1:c.*365A>G XP_016862326.1:n.*365A>G
XM_017006838.2:c.2322A>G XP_016862327.1:p.Ter774Trp
XM_024453639.1:c.2772A>G XP_024309407.1:p.Ter924Trp
Search 100 bp 5'
Search 100 bp 3'