Canonical Allele Identifier: CA2606954

Gene: IFT122

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129519616C>T , CM000665.2:g.129519616C>T	GRCh38
NC_000003.11:g.129238459C>T , CM000665.1:g.129238459C>T	GRCh37
NC_000003.10:g.130721149C>T	NCBI36
NG_023392.1:g.84492C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_052989.3:c.3520C>T MANE Select	NP_443715.1:p.Arg1174Cys
ENST00000348417.7:c.3520C>T MANE Select	ENSP00000324005.4:p.Arg1174Cys
NM_001280541.1:c.3499C>T	NP_001267470.1:p.Arg1167Cys
NM_001280541.2:c.3499C>T	NP_001267470.1:p.Arg1167Cys
NM_001280545.1:c.3070C>T	NP_001267474.1:p.Arg1024Cys
NM_001280545.2:c.3070C>T	NP_001267474.1:p.Arg1024Cys
NM_001280546.1:c.2893C>T	NP_001267475.1:p.Arg965Cys
NM_001280546.2:c.2893C>T	NP_001267475.1:p.Arg965Cys
NM_018262.3:c.3343C>T	NP_060732.2:p.Arg1115Cys
NM_018262.4:c.3343C>T	NP_060732.2:p.Arg1115Cys
NM_052985.3:c.3673C>T	NP_443711.2:p.Arg1225Cys
NM_052985.4:c.3673C>T	NP_443711.2:p.Arg1225Cys
NM_052989.2:c.3520C>T	NP_443715.1:p.Arg1174Cys
NM_052990.2:c.3190C>T	NP_443716.1:p.Arg1064Cys
NM_052990.3:c.3190C>T	NP_443716.1:p.Arg1064Cys
ENST00000296266.7:c.3673C>T	ENSP00000296266.3:p.Arg1225Cys
ENST00000347300.6:c.3343C>T	ENSP00000323973.3:p.Arg1115Cys
ENST00000348417.6:c.3520C>T	ENSP00000324005.3:p.Arg1174Cys
ENST00000349441.6:c.3190C>T	ENSP00000324165.3:p.Arg1064Cys
ENST00000431818.6:c.3070C>T	ENSP00000410946.2:p.Arg1024Cys
ENST00000431818.8:c.*2782C>T	ENSP00000410946.3:n.*2782C>T
ENST00000440957.6:c.2893C>T	ENSP00000401569.2:p.Arg965Cys
ENST00000440957.7:c.*2841C>T	ENSP00000401569.3:n.*2841C>T
ENST00000504021.5:c.3151C>T	ENSP00000422179.1:p.Arg1051Cys
ENST00000504021.6:c.3136C>T	ENSP00000422179.2:p.Arg1046Cys
ENST00000504444.2:n.2463C>T
ENST00000506507.5:n.4236C>T
ENST00000507221.2:c.1606C>T	ENSP00000427515.2:p.Arg536Cys
ENST00000507564.5:c.3499C>T	ENSP00000425536.1:p.Arg1167Cys
ENST00000511425.5:n.1929C>T
ENST00000512220.5:c.*3428C>T	ENSP00000421953.1:n.*3428C>T
ENST00000513190.1:n.2564C>T
ENST00000513932.2:n.1813C>T
ENST00000515783.6:c.3025C>T	ENSP00000423288.2:p.Arg1009Cys
ENST00000685087.1:c.*80C>T	ENSP00000509245.1:n.*80C>T
ENST00000685122.1:c.1609C>T	ENSP00000510278.1:p.Arg537Cys
ENST00000685189.1:c.*3251C>T	ENSP00000510418.1:n.*3251C>T
ENST00000685282.1:c.*738C>T	ENSP00000508642.1:n.*738C>T
ENST00000685447.1:c.*640C>T	ENSP00000509155.1:n.*640C>T
ENST00000685512.1:n.4323C>T
ENST00000685621.1:n.2701C>T
ENST00000685811.1:n.4261C>T
ENST00000685921.1:c.3232C>T	ENSP00000509914.1:p.Arg1078Cys
ENST00000685939.1:c.*1940C>T	ENSP00000509414.1:n.*1940C>T
ENST00000686375.1:c.*1961C>T	ENSP00000510777.1:n.*1961C>T
ENST00000686473.1:c.3178C>T	ENSP00000508526.1:p.Arg1060Cys
ENST00000686531.1:c.3124C>T	ENSP00000510570.1:p.Arg1042Cys
ENST00000686614.1:n.2236C>T
ENST00000686830.1:c.3181C>T	ENSP00000510002.1:p.Arg1061Cys
ENST00000687377.1:c.3469C>T	ENSP00000509225.1:p.Arg1157Cys
ENST00000687398.1:c.*2978C>T	ENSP00000510191.1:n.*2978C>T
ENST00000687461.1:n.3882C>T
ENST00000687645.1:c.*461C>T	ENSP00000510672.1:n.*461C>T
ENST00000687766.1:c.*1112C>T	ENSP00000509886.1:n.*1112C>T
ENST00000687791.1:c.*605C>T	ENSP00000509224.1:n.*605C>T
ENST00000687845.1:c.3030C>T	ENSP00000508687.1:n.3030C>T
ENST00000687864.1:n.4473C>T
ENST00000688020.1:c.3364C>T	ENSP00000508904.1:p.Arg1122Cys
ENST00000688129.1:c.*3122C>T	ENSP00000509382.1:n.*3122C>T
ENST00000688266.1:n.3033C>T
ENST00000688392.1:n.3934C>T
ENST00000688504.1:n.4419C>T
ENST00000688527.1:c.1663C>T	ENSP00000508740.1:p.Arg555Cys
ENST00000688657.1:c.1498C>T	ENSP00000508933.1:p.Arg500Cys
ENST00000688664.1:c.*2768C>T	ENSP00000510359.1:n.*2768C>T
ENST00000688765.1:n.1229C>T
ENST00000689005.1:c.3043C>T	ENSP00000510168.1:p.Arg1015Cys
ENST00000689313.1:c.3496C>T	ENSP00000509012.1:p.Arg1166Cys
ENST00000689332.1:c.3346C>T	ENSP00000510425.1:p.Arg1116Cys
ENST00000689384.1:n.4087C>T
ENST00000689492.1:c.3196C>T	ENSP00000510239.1:p.Arg1066Cys
ENST00000689643.1:c.3520C>T	ENSP00000509801.1:p.Arg1174Cys
ENST00000689796.1:c.3184C>T	ENSP00000509716.1:p.Arg1062Cys
ENST00000689801.1:c.3292C>T	ENSP00000509982.1:p.Arg1098Cys
ENST00000689871.1:c.*436C>T	ENSP00000510412.1:n.*436C>T
ENST00000689884.1:n.2507C>T
ENST00000690209.1:c.*80C>T	ENSP00000509005.1:n.*80C>T
ENST00000690617.1:n.3457C>T
ENST00000690657.1:c.1660C>T	ENSP00000510699.1:p.Arg554Cys
ENST00000690663.1:c.3133C>T	ENSP00000509297.1:p.Arg1045Cys
ENST00000690677.1:c.*2802C>T	ENSP00000510036.1:n.*2802C>T
ENST00000690723.1:c.*605C>T	ENSP00000508811.1:n.*605C>T
ENST00000690800.1:n.443C>T
ENST00000690862.1:c.3289C>T	ENSP00000509210.1:p.Arg1097Cys
ENST00000691148.1:n.3987C>T
ENST00000691360.1:c.*2946C>T	ENSP00000510040.1:n.*2946C>T
ENST00000691583.1:c.3289C>T	ENSP00000510741.1:p.Arg1097Cys
ENST00000691641.1:c.*3068C>T	ENSP00000509350.1:n.*3068C>T
ENST00000691705.1:c.*80C>T	ENSP00000510077.1:n.*80C>T
ENST00000691733.1:c.3343C>T	ENSP00000509735.1:p.Arg1115Cys
ENST00000691770.1:c.*872C>T	ENSP00000510126.1:n.*872C>T
ENST00000691964.1:c.3286C>T	ENSP00000509094.1:p.Arg1096Cys
ENST00000692228.1:c.*2417C>T	ENSP00000508464.1:n.*2417C>T
ENST00000692242.1:c.3523C>T	ENSP00000509878.1:p.Arg1175Cys
ENST00000692321.1:c.2839C>T	ENSP00000508614.1:p.Arg947Cys
ENST00000692391.1:c.*531C>T	ENSP00000509211.1:n.*531C>T
ENST00000692508.1:n.4167C>T
ENST00000692728.1:c.2839C>T	ENSP00000510105.1:p.Arg947Cys
ENST00000692901.1:c.3112C>T	ENSP00000510339.1:p.Arg1038Cys
ENST00000692929.1:n.2374C>T
ENST00000692985.1:c.*3060C>T	ENSP00000510460.1:n.*3060C>T
ENST00000693114.1:c.*2357C>T	ENSP00000508738.1:n.*2357C>T
ENST00000693129.1:c.3466C>T	ENSP00000509806.1:p.Arg1156Cys
ENST00000693162.1:c.*531C>T	ENSP00000509103.1:n.*531C>T
ENST00000693233.1:c.2893C>T	ENSP00000509186.1:p.Arg965Cys
ENST00000693489.1:c.3457C>T	ENSP00000509656.1:p.Arg1153Cys
ENST00000693588.1:c.3187C>T	ENSP00000509216.1:p.Arg1063Cys
ENST00000693654.1:n.3757C>T
XM_005247609.1:c.3346C>T	XP_005247666.1:p.Arg1116Cys
XM_005247609.2:c.3346C>T	XP_005247666.1:p.Arg1116Cys
XM_006713689.1:c.3523C>T	XP_006713752.1:p.Arg1175Cys
XM_006713689.2:c.3523C>T	XP_006713752.1:p.Arg1175Cys
XM_006713691.2:c.3469C>T	XP_006713754.1:p.Arg1157Cys
XM_006713691.3:c.3469C>T	XP_006713754.1:p.Arg1157Cys
XM_006713692.2:c.3292C>T	XP_006713755.1:p.Arg1098Cys
XM_006713692.3:c.3292C>T	XP_006713755.1:p.Arg1098Cys
XM_011512967.1:c.3367C>T	XP_011511269.1:p.Arg1123Cys
XM_011512968.1:c.3073C>T	XP_011511270.1:p.Arg1025Cys
XM_011512969.1:c.3073C>T	XP_011511271.1:p.Arg1025Cys
XM_011512970.1:c.3073C>T	XP_011511272.1:p.Arg1025Cys
XM_011512971.1:c.2896C>T	XP_011511273.1:p.Arg966Cys
XM_011512973.1:c.2119C>T	XP_011511275.1:p.Arg707Cys
XM_017006817.2:c.3523C>T	XP_016862306.1:p.Arg1175Cys
XM_017006818.2:c.3520C>T	XP_016862307.1:p.Arg1174Cys
XM_017006819.2:c.3469C>T	XP_016862308.1:p.Arg1157Cys
XM_017006820.2:c.3466C>T	XP_016862309.1:p.Arg1156Cys
XM_017006821.2:c.3466C>T	XP_016862310.1:p.Arg1156Cys
XM_017006822.2:c.3367C>T	XP_016862311.1:p.Arg1123Cys
XM_017006823.2:c.3346C>T	XP_016862312.1:p.Arg1116Cys
XM_017006824.2:c.3343C>T	XP_016862313.1:p.Arg1115Cys
XM_017006825.2:c.3292C>T	XP_016862314.1:p.Arg1098Cys
XM_017006826.2:c.3289C>T	XP_016862315.1:p.Arg1097Cys
XM_017006827.2:c.3289C>T	XP_016862316.1:p.Arg1097Cys
XM_017006828.2:c.3190C>T	XP_016862317.1:p.Arg1064Cys
XM_017006829.2:c.3187C>T	XP_016862318.1:p.Arg1063Cys
XM_017006830.2:c.3073C>T	XP_016862319.1:p.Arg1025Cys
XM_017006831.1:c.3073C>T	XP_016862320.1:p.Arg1025Cys
XM_017006832.1:c.3073C>T	XP_016862321.1:p.Arg1025Cys
XM_017006833.2:c.3136C>T	XP_016862322.1:p.Arg1046Cys
XM_017006834.2:c.3133C>T	XP_016862323.1:p.Arg1045Cys
XM_017006835.1:c.2896C>T	XP_016862324.1:p.Arg966Cys
XM_017006836.2:c.2842C>T	XP_016862325.1:p.Arg948Cys
XM_017006837.1:c.2119C>T	XP_016862326.1:p.Arg707Cys
XM_017006838.2:c.2116C>T	XP_016862327.1:p.Arg706Cys
XM_024453639.1:c.2566C>T	XP_024309407.1:p.Arg856Cys