Canonical Allele Identifier: CA82640168

Gene: IFT122

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129519649C>T , CM000665.2:g.129519649C>T	GRCh38
NC_000003.11:g.129238492C>T , CM000665.1:g.129238492C>T	GRCh37
NC_000003.10:g.130721182C>T	NCBI36
NG_023392.1:g.84525C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_052989.3:c.3553C>T MANE Select	NP_443715.1:p.Arg1185Ter
ENST00000348417.7:c.3553C>T MANE Select	ENSP00000324005.4:p.Arg1185Ter
NM_001280541.1:c.3532C>T	NP_001267470.1:p.Arg1178Ter
NM_001280541.2:c.3532C>T	NP_001267470.1:p.Arg1178Ter
NM_001280545.1:c.3103C>T	NP_001267474.1:p.Arg1035Ter
NM_001280545.2:c.3103C>T	NP_001267474.1:p.Arg1035Ter
NM_001280546.1:c.2926C>T	NP_001267475.1:p.Arg976Ter
NM_001280546.2:c.2926C>T	NP_001267475.1:p.Arg976Ter
NM_018262.3:c.3376C>T	NP_060732.2:p.Arg1126Ter
NM_018262.4:c.3376C>T	NP_060732.2:p.Arg1126Ter
NM_052985.3:c.3706C>T	NP_443711.2:p.Arg1236Ter
NM_052985.4:c.3706C>T	NP_443711.2:p.Arg1236Ter
NM_052989.2:c.3553C>T	NP_443715.1:p.Arg1185Ter
NM_052990.2:c.3223C>T	NP_443716.1:p.Arg1075Ter
NM_052990.3:c.3223C>T	NP_443716.1:p.Arg1075Ter
ENST00000296266.7:c.3706C>T	ENSP00000296266.3:p.Arg1236Ter
ENST00000347300.6:c.3376C>T	ENSP00000323973.3:p.Arg1126Ter
ENST00000348417.6:c.3553C>T	ENSP00000324005.3:p.Arg1185Ter
ENST00000349441.6:c.3223C>T	ENSP00000324165.3:p.Arg1075Ter
ENST00000431818.6:c.3103C>T	ENSP00000410946.2:p.Arg1035Ter
ENST00000431818.8:c.*2815C>T	ENSP00000410946.3:n.*2815C>T
ENST00000440957.6:c.2926C>T	ENSP00000401569.2:p.Arg976Ter
ENST00000440957.7:c.*2874C>T	ENSP00000401569.3:n.*2874C>T
ENST00000504021.5:c.3184C>T	ENSP00000422179.1:p.Arg1062Ter
ENST00000504021.6:c.3169C>T	ENSP00000422179.2:p.Arg1057Ter
ENST00000504444.2:n.2496C>T
ENST00000506507.5:n.4269C>T
ENST00000507221.2:c.1639C>T	ENSP00000427515.2:p.Arg547Ter
ENST00000507564.5:c.3532C>T	ENSP00000425536.1:p.Arg1178Ter
ENST00000511425.5:n.1962C>T
ENST00000512220.5:c.*3461C>T	ENSP00000421953.1:n.*3461C>T
ENST00000513190.1:n.2597C>T
ENST00000513932.2:n.1846C>T
ENST00000515783.6:c.3058C>T	ENSP00000423288.2:p.Arg1020Ter
ENST00000685087.1:c.*113C>T	ENSP00000509245.1:n.*113C>T
ENST00000685122.1:c.1642C>T	ENSP00000510278.1:p.Arg548Ter
ENST00000685189.1:c.*3284C>T	ENSP00000510418.1:n.*3284C>T
ENST00000685282.1:c.*771C>T	ENSP00000508642.1:n.*771C>T
ENST00000685447.1:c.*673C>T	ENSP00000509155.1:n.*673C>T
ENST00000685512.1:n.4356C>T
ENST00000685621.1:n.2734C>T
ENST00000685811.1:n.4294C>T
ENST00000685921.1:c.3265C>T	ENSP00000509914.1:p.Arg1089Ter
ENST00000685939.1:c.*1973C>T	ENSP00000509414.1:n.*1973C>T
ENST00000686375.1:c.*1994C>T	ENSP00000510777.1:n.*1994C>T
ENST00000686473.1:c.3211C>T	ENSP00000508526.1:p.Arg1071Ter
ENST00000686531.1:c.3157C>T	ENSP00000510570.1:p.Arg1053Ter
ENST00000686614.1:n.2269C>T
ENST00000686830.1:c.3214C>T	ENSP00000510002.1:p.Arg1072Ter
ENST00000687377.1:c.3502C>T	ENSP00000509225.1:p.Arg1168Ter
ENST00000687398.1:c.*3011C>T	ENSP00000510191.1:n.*3011C>T
ENST00000687461.1:n.3915C>T
ENST00000687645.1:c.*494C>T	ENSP00000510672.1:n.*494C>T
ENST00000687766.1:c.*1145C>T	ENSP00000509886.1:n.*1145C>T
ENST00000687791.1:c.*638C>T	ENSP00000509224.1:n.*638C>T
ENST00000687845.1:c.3063C>T	ENSP00000508687.1:n.3063C>T
ENST00000687864.1:n.4506C>T
ENST00000688020.1:c.3397C>T	ENSP00000508904.1:p.Arg1133Ter
ENST00000688129.1:c.*3155C>T	ENSP00000509382.1:n.*3155C>T
ENST00000688266.1:n.3066C>T
ENST00000688392.1:n.3967C>T
ENST00000688504.1:n.4452C>T
ENST00000688527.1:c.1696C>T	ENSP00000508740.1:p.Arg566Ter
ENST00000688657.1:c.1531C>T	ENSP00000508933.1:p.Arg511Ter
ENST00000688664.1:c.*2801C>T	ENSP00000510359.1:n.*2801C>T
ENST00000688765.1:n.1262C>T
ENST00000689005.1:c.3076C>T	ENSP00000510168.1:p.Arg1026Ter
ENST00000689313.1:c.3529C>T	ENSP00000509012.1:p.Arg1177Ter
ENST00000689332.1:c.3379C>T	ENSP00000510425.1:p.Arg1127Ter
ENST00000689384.1:n.4120C>T
ENST00000689492.1:c.3229C>T	ENSP00000510239.1:p.Arg1077Ter
ENST00000689643.1:c.3553C>T	ENSP00000509801.1:p.Arg1185Ter
ENST00000689796.1:c.3217C>T	ENSP00000509716.1:p.Arg1073Ter
ENST00000689801.1:c.3325C>T	ENSP00000509982.1:p.Arg1109Ter
ENST00000689871.1:c.*469C>T	ENSP00000510412.1:n.*469C>T
ENST00000689884.1:n.2540C>T
ENST00000690209.1:c.*113C>T	ENSP00000509005.1:n.*113C>T
ENST00000690617.1:n.3490C>T
ENST00000690657.1:c.1693C>T	ENSP00000510699.1:p.Arg565Ter
ENST00000690663.1:c.3166C>T	ENSP00000509297.1:p.Arg1056Ter
ENST00000690677.1:c.*2835C>T	ENSP00000510036.1:n.*2835C>T
ENST00000690723.1:c.*638C>T	ENSP00000508811.1:n.*638C>T
ENST00000690800.1:n.476C>T
ENST00000690862.1:c.3322C>T	ENSP00000509210.1:p.Arg1108Ter
ENST00000691148.1:n.4020C>T
ENST00000691360.1:c.*2979C>T	ENSP00000510040.1:n.*2979C>T
ENST00000691583.1:c.3322C>T	ENSP00000510741.1:p.Arg1108Ter
ENST00000691641.1:c.*3101C>T	ENSP00000509350.1:n.*3101C>T
ENST00000691705.1:c.*113C>T	ENSP00000510077.1:n.*113C>T
ENST00000691733.1:c.3376C>T	ENSP00000509735.1:p.Arg1126Ter
ENST00000691770.1:c.*905C>T	ENSP00000510126.1:n.*905C>T
ENST00000691964.1:c.3319C>T	ENSP00000509094.1:p.Arg1107Ter
ENST00000692228.1:c.*2450C>T	ENSP00000508464.1:n.*2450C>T
ENST00000692242.1:c.3556C>T	ENSP00000509878.1:p.Arg1186Ter
ENST00000692321.1:c.2872C>T	ENSP00000508614.1:p.Arg958Ter
ENST00000692391.1:c.*564C>T	ENSP00000509211.1:n.*564C>T
ENST00000692508.1:n.4200C>T
ENST00000692728.1:c.2872C>T	ENSP00000510105.1:p.Arg958Ter
ENST00000692901.1:c.3145C>T	ENSP00000510339.1:p.Arg1049Ter
ENST00000692929.1:n.2407C>T
ENST00000692985.1:c.*3093C>T	ENSP00000510460.1:n.*3093C>T
ENST00000693114.1:c.*2390C>T	ENSP00000508738.1:n.*2390C>T
ENST00000693129.1:c.3499C>T	ENSP00000509806.1:p.Arg1167Ter
ENST00000693162.1:c.*564C>T	ENSP00000509103.1:n.*564C>T
ENST00000693233.1:c.2926C>T	ENSP00000509186.1:p.Arg976Ter
ENST00000693489.1:c.3490C>T	ENSP00000509656.1:p.Arg1164Ter
ENST00000693588.1:c.3220C>T	ENSP00000509216.1:p.Arg1074Ter
ENST00000693654.1:n.3790C>T
XM_005247609.1:c.3379C>T	XP_005247666.1:p.Arg1127Ter
XM_005247609.2:c.3379C>T	XP_005247666.1:p.Arg1127Ter
XM_006713689.1:c.3556C>T	XP_006713752.1:p.Arg1186Ter
XM_006713689.2:c.3556C>T	XP_006713752.1:p.Arg1186Ter
XM_006713691.2:c.3502C>T	XP_006713754.1:p.Arg1168Ter
XM_006713691.3:c.3502C>T	XP_006713754.1:p.Arg1168Ter
XM_006713692.2:c.3325C>T	XP_006713755.1:p.Arg1109Ter
XM_006713692.3:c.3325C>T	XP_006713755.1:p.Arg1109Ter
XM_011512967.1:c.3400C>T	XP_011511269.1:p.Arg1134Ter
XM_011512968.1:c.3106C>T	XP_011511270.1:p.Arg1036Ter
XM_011512969.1:c.3106C>T	XP_011511271.1:p.Arg1036Ter
XM_011512970.1:c.3106C>T	XP_011511272.1:p.Arg1036Ter
XM_011512971.1:c.2929C>T	XP_011511273.1:p.Arg977Ter
XM_011512973.1:c.2152C>T	XP_011511275.1:p.Arg718Ter
XM_017006817.2:c.3556C>T	XP_016862306.1:p.Arg1186Ter
XM_017006818.2:c.3553C>T	XP_016862307.1:p.Arg1185Ter
XM_017006819.2:c.3502C>T	XP_016862308.1:p.Arg1168Ter
XM_017006820.2:c.3499C>T	XP_016862309.1:p.Arg1167Ter
XM_017006821.2:c.3499C>T	XP_016862310.1:p.Arg1167Ter
XM_017006822.2:c.3400C>T	XP_016862311.1:p.Arg1134Ter
XM_017006823.2:c.3379C>T	XP_016862312.1:p.Arg1127Ter
XM_017006824.2:c.3376C>T	XP_016862313.1:p.Arg1126Ter
XM_017006825.2:c.3325C>T	XP_016862314.1:p.Arg1109Ter
XM_017006826.2:c.3322C>T	XP_016862315.1:p.Arg1108Ter
XM_017006827.2:c.3322C>T	XP_016862316.1:p.Arg1108Ter
XM_017006828.2:c.3223C>T	XP_016862317.1:p.Arg1075Ter
XM_017006829.2:c.3220C>T	XP_016862318.1:p.Arg1074Ter
XM_017006830.2:c.3106C>T	XP_016862319.1:p.Arg1036Ter
XM_017006831.1:c.3106C>T	XP_016862320.1:p.Arg1036Ter
XM_017006832.1:c.3106C>T	XP_016862321.1:p.Arg1036Ter
XM_017006833.2:c.3169C>T	XP_016862322.1:p.Arg1057Ter
XM_017006834.2:c.3166C>T	XP_016862323.1:p.Arg1056Ter
XM_017006835.1:c.2929C>T	XP_016862324.1:p.Arg977Ter
XM_017006836.2:c.2875C>T	XP_016862325.1:p.Arg959Ter
XM_017006837.1:c.2152C>T	XP_016862326.1:p.Arg718Ter
XM_017006838.2:c.2149C>T	XP_016862327.1:p.Arg717Ter
XM_024453639.1:c.2599C>T	XP_024309407.1:p.Arg867Ter