Canonical Allele Identifier: CA2606969

Gene: IFT122

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129519682C>T , CM000665.2:g.129519682C>T	GRCh38
NC_000003.11:g.129238525C>T , CM000665.1:g.129238525C>T	GRCh37
NC_000003.10:g.130721215C>T	NCBI36
NG_023392.1:g.84558C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_052989.3:c.3586C>T MANE Select	NP_443715.1:p.Arg1196Cys
ENST00000348417.7:c.3586C>T MANE Select	ENSP00000324005.4:p.Arg1196Cys
NM_001280541.1:c.3565C>T	NP_001267470.1:p.Arg1189Cys
NM_001280541.2:c.3565C>T	NP_001267470.1:p.Arg1189Cys
NM_001280545.1:c.3136C>T	NP_001267474.1:p.Arg1046Cys
NM_001280545.2:c.3136C>T	NP_001267474.1:p.Arg1046Cys
NM_001280546.1:c.2959C>T	NP_001267475.1:p.Arg987Cys
NM_001280546.2:c.2959C>T	NP_001267475.1:p.Arg987Cys
NM_018262.3:c.3409C>T	NP_060732.2:p.Arg1137Cys
NM_018262.4:c.3409C>T	NP_060732.2:p.Arg1137Cys
NM_052985.3:c.3739C>T	NP_443711.2:p.Arg1247Cys
NM_052985.4:c.3739C>T	NP_443711.2:p.Arg1247Cys
NM_052989.2:c.3586C>T	NP_443715.1:p.Arg1196Cys
NM_052990.2:c.3256C>T	NP_443716.1:p.Arg1086Cys
NM_052990.3:c.3256C>T	NP_443716.1:p.Arg1086Cys
ENST00000296266.7:c.3739C>T	ENSP00000296266.3:p.Arg1247Cys
ENST00000347300.6:c.3409C>T	ENSP00000323973.3:p.Arg1137Cys
ENST00000348417.6:c.3586C>T	ENSP00000324005.3:p.Arg1196Cys
ENST00000349441.6:c.3256C>T	ENSP00000324165.3:p.Arg1086Cys
ENST00000431818.6:c.3136C>T	ENSP00000410946.2:p.Arg1046Cys
ENST00000431818.8:c.*2848C>T	ENSP00000410946.3:n.*2848C>T
ENST00000440957.6:c.2959C>T	ENSP00000401569.2:p.Arg987Cys
ENST00000440957.7:c.*2907C>T	ENSP00000401569.3:n.*2907C>T
ENST00000504021.5:c.3217C>T	ENSP00000422179.1:p.Arg1073Cys
ENST00000504021.6:c.3202C>T	ENSP00000422179.2:p.Arg1068Cys
ENST00000504444.2:n.2529C>T
ENST00000506507.5:n.4302C>T
ENST00000507221.2:c.1672C>T	ENSP00000427515.2:p.Arg558Cys
ENST00000507564.5:c.3565C>T	ENSP00000425536.1:p.Arg1189Cys
ENST00000511425.5:n.1995C>T
ENST00000512220.5:c.*3494C>T	ENSP00000421953.1:n.*3494C>T
ENST00000513190.1:n.2630C>T
ENST00000513932.2:n.1879C>T
ENST00000515783.6:c.3091C>T	ENSP00000423288.2:p.Arg1031Cys
ENST00000685087.1:c.*146C>T	ENSP00000509245.1:n.*146C>T
ENST00000685122.1:c.1675C>T	ENSP00000510278.1:p.Arg559Cys
ENST00000685189.1:c.*3317C>T	ENSP00000510418.1:n.*3317C>T
ENST00000685282.1:c.*804C>T	ENSP00000508642.1:n.*804C>T
ENST00000685447.1:c.*706C>T	ENSP00000509155.1:n.*706C>T
ENST00000685512.1:n.4389C>T
ENST00000685621.1:n.2767C>T
ENST00000685811.1:n.4327C>T
ENST00000685921.1:c.3298C>T	ENSP00000509914.1:p.Arg1100Cys
ENST00000685939.1:c.*2006C>T	ENSP00000509414.1:n.*2006C>T
ENST00000686375.1:c.*2027C>T	ENSP00000510777.1:n.*2027C>T
ENST00000686473.1:c.3244C>T	ENSP00000508526.1:p.Arg1082Cys
ENST00000686531.1:c.3190C>T	ENSP00000510570.1:p.Arg1064Cys
ENST00000686614.1:n.2302C>T
ENST00000686830.1:c.3247C>T	ENSP00000510002.1:p.Arg1083Cys
ENST00000687377.1:c.3535C>T	ENSP00000509225.1:p.Arg1179Cys
ENST00000687398.1:c.*3044C>T	ENSP00000510191.1:n.*3044C>T
ENST00000687461.1:n.3948C>T
ENST00000687645.1:c.*527C>T	ENSP00000510672.1:n.*527C>T
ENST00000687766.1:c.*1178C>T	ENSP00000509886.1:n.*1178C>T
ENST00000687791.1:c.*671C>T	ENSP00000509224.1:n.*671C>T
ENST00000687845.1:c.3096C>T	ENSP00000508687.1:n.3096C>T
ENST00000687864.1:n.4539C>T
ENST00000688020.1:c.3430C>T	ENSP00000508904.1:p.Arg1144Cys
ENST00000688129.1:c.*3188C>T	ENSP00000509382.1:n.*3188C>T
ENST00000688266.1:n.3099C>T
ENST00000688392.1:n.4000C>T
ENST00000688504.1:n.4485C>T
ENST00000688527.1:c.1729C>T	ENSP00000508740.1:p.Arg577Cys
ENST00000688657.1:c.1564C>T	ENSP00000508933.1:p.Arg522Cys
ENST00000688664.1:c.*2834C>T	ENSP00000510359.1:n.*2834C>T
ENST00000688765.1:n.1295C>T
ENST00000689005.1:c.3109C>T	ENSP00000510168.1:p.Arg1037Cys
ENST00000689313.1:c.3562C>T	ENSP00000509012.1:p.Arg1188Cys
ENST00000689332.1:c.3412C>T	ENSP00000510425.1:p.Arg1138Cys
ENST00000689384.1:n.4153C>T
ENST00000689492.1:c.3262C>T	ENSP00000510239.1:p.Arg1088Cys
ENST00000689643.1:c.3586C>T	ENSP00000509801.1:p.Arg1196Cys
ENST00000689796.1:c.3250C>T	ENSP00000509716.1:p.Arg1084Cys
ENST00000689801.1:c.3358C>T	ENSP00000509982.1:p.Arg1120Cys
ENST00000689871.1:c.*502C>T	ENSP00000510412.1:n.*502C>T
ENST00000689884.1:n.2573C>T
ENST00000690209.1:c.*146C>T	ENSP00000509005.1:n.*146C>T
ENST00000690617.1:n.3523C>T
ENST00000690657.1:c.1726C>T	ENSP00000510699.1:p.Arg576Cys
ENST00000690663.1:c.3199C>T	ENSP00000509297.1:p.Arg1067Cys
ENST00000690677.1:c.*2868C>T	ENSP00000510036.1:n.*2868C>T
ENST00000690723.1:c.*671C>T	ENSP00000508811.1:n.*671C>T
ENST00000690800.1:n.509C>T
ENST00000690862.1:c.3355C>T	ENSP00000509210.1:p.Arg1119Cys
ENST00000691148.1:n.4053C>T
ENST00000691360.1:c.*3012C>T	ENSP00000510040.1:n.*3012C>T
ENST00000691583.1:c.3355C>T	ENSP00000510741.1:p.Arg1119Cys
ENST00000691641.1:c.*3134C>T	ENSP00000509350.1:n.*3134C>T
ENST00000691705.1:c.*146C>T	ENSP00000510077.1:n.*146C>T
ENST00000691733.1:c.3409C>T	ENSP00000509735.1:p.Arg1137Cys
ENST00000691770.1:c.*938C>T	ENSP00000510126.1:n.*938C>T
ENST00000691964.1:c.3352C>T	ENSP00000509094.1:p.Arg1118Cys
ENST00000692228.1:c.*2483C>T	ENSP00000508464.1:n.*2483C>T
ENST00000692242.1:c.3589C>T	ENSP00000509878.1:p.Arg1197Cys
ENST00000692321.1:c.2905C>T	ENSP00000508614.1:p.Arg969Cys
ENST00000692391.1:c.*597C>T	ENSP00000509211.1:n.*597C>T
ENST00000692508.1:n.4233C>T
ENST00000692728.1:c.2905C>T	ENSP00000510105.1:p.Arg969Cys
ENST00000692901.1:c.3178C>T	ENSP00000510339.1:p.Arg1060Cys
ENST00000692929.1:n.2440C>T
ENST00000692985.1:c.*3126C>T	ENSP00000510460.1:n.*3126C>T
ENST00000693114.1:c.*2423C>T	ENSP00000508738.1:n.*2423C>T
ENST00000693129.1:c.3532C>T	ENSP00000509806.1:p.Arg1178Cys
ENST00000693162.1:c.*597C>T	ENSP00000509103.1:n.*597C>T
ENST00000693233.1:c.2959C>T	ENSP00000509186.1:p.Arg987Cys
ENST00000693489.1:c.3523C>T	ENSP00000509656.1:p.Arg1175Cys
ENST00000693588.1:c.3253C>T	ENSP00000509216.1:p.Arg1085Cys
ENST00000693654.1:n.3823C>T
XM_005247609.1:c.3412C>T	XP_005247666.1:p.Arg1138Cys
XM_005247609.2:c.3412C>T	XP_005247666.1:p.Arg1138Cys
XM_006713689.1:c.3589C>T	XP_006713752.1:p.Arg1197Cys
XM_006713689.2:c.3589C>T	XP_006713752.1:p.Arg1197Cys
XM_006713691.2:c.3535C>T	XP_006713754.1:p.Arg1179Cys
XM_006713691.3:c.3535C>T	XP_006713754.1:p.Arg1179Cys
XM_006713692.2:c.3358C>T	XP_006713755.1:p.Arg1120Cys
XM_006713692.3:c.3358C>T	XP_006713755.1:p.Arg1120Cys
XM_011512967.1:c.3433C>T	XP_011511269.1:p.Arg1145Cys
XM_011512968.1:c.3139C>T	XP_011511270.1:p.Arg1047Cys
XM_011512969.1:c.3139C>T	XP_011511271.1:p.Arg1047Cys
XM_011512970.1:c.3139C>T	XP_011511272.1:p.Arg1047Cys
XM_011512971.1:c.2962C>T	XP_011511273.1:p.Arg988Cys
XM_011512973.1:c.2185C>T	XP_011511275.1:p.Arg729Cys
XM_017006817.2:c.3589C>T	XP_016862306.1:p.Arg1197Cys
XM_017006818.2:c.3586C>T	XP_016862307.1:p.Arg1196Cys
XM_017006819.2:c.3535C>T	XP_016862308.1:p.Arg1179Cys
XM_017006820.2:c.3532C>T	XP_016862309.1:p.Arg1178Cys
XM_017006821.2:c.3532C>T	XP_016862310.1:p.Arg1178Cys
XM_017006822.2:c.3433C>T	XP_016862311.1:p.Arg1145Cys
XM_017006823.2:c.3412C>T	XP_016862312.1:p.Arg1138Cys
XM_017006824.2:c.3409C>T	XP_016862313.1:p.Arg1137Cys
XM_017006825.2:c.3358C>T	XP_016862314.1:p.Arg1120Cys
XM_017006826.2:c.3355C>T	XP_016862315.1:p.Arg1119Cys
XM_017006827.2:c.3355C>T	XP_016862316.1:p.Arg1119Cys
XM_017006828.2:c.3256C>T	XP_016862317.1:p.Arg1086Cys
XM_017006829.2:c.3253C>T	XP_016862318.1:p.Arg1085Cys
XM_017006830.2:c.3139C>T	XP_016862319.1:p.Arg1047Cys
XM_017006831.1:c.3139C>T	XP_016862320.1:p.Arg1047Cys
XM_017006832.1:c.3139C>T	XP_016862321.1:p.Arg1047Cys
XM_017006833.2:c.3202C>T	XP_016862322.1:p.Arg1068Cys
XM_017006834.2:c.3199C>T	XP_016862323.1:p.Arg1067Cys
XM_017006835.1:c.2962C>T	XP_016862324.1:p.Arg988Cys
XM_017006836.2:c.2908C>T	XP_016862325.1:p.Arg970Cys
XM_017006837.1:c.2185C>T	XP_016862326.1:p.Arg729Cys
XM_017006838.2:c.2182C>T	XP_016862327.1:p.Arg728Cys
XM_024453639.1:c.2632C>T	XP_024309407.1:p.Arg878Cys