Canonical Allele Identifier: CA2606752

Gene: IFT122

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129514414C>T , CM000665.2:g.129514414C>T	GRCh38
NC_000003.11:g.129233257C>T , CM000665.1:g.129233257C>T	GRCh37
NC_000003.10:g.130715947C>T	NCBI36
NG_023392.1:g.79290C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_052989.3:c.3013C>T MANE Select	NP_443715.1:p.Gln1005Ter
ENST00000348417.7:c.3013C>T MANE Select	ENSP00000324005.4:p.Gln1005Ter
NM_001280541.1:c.2992C>T	NP_001267470.1:p.Gln998Ter
NM_001280541.2:c.2992C>T	NP_001267470.1:p.Gln998Ter
NM_001280545.1:c.2563C>T	NP_001267474.1:p.Gln855Ter
NM_001280545.2:c.2563C>T	NP_001267474.1:p.Gln855Ter
NM_001280546.1:c.2386C>T	NP_001267475.1:p.Gln796Ter
NM_001280546.2:c.2386C>T	NP_001267475.1:p.Gln796Ter
NM_018262.3:c.2836C>T	NP_060732.2:p.Gln946Ter
NM_018262.4:c.2836C>T	NP_060732.2:p.Gln946Ter
NM_052985.3:c.3166C>T	NP_443711.2:p.Gln1056Ter
NM_052985.4:c.3166C>T	NP_443711.2:p.Gln1056Ter
NM_052989.2:c.3013C>T	NP_443715.1:p.Gln1005Ter
NM_052990.2:c.2683C>T	NP_443716.1:p.Gln895Ter
NM_052990.3:c.2683C>T	NP_443716.1:p.Gln895Ter
ENST00000296266.7:c.3166C>T	ENSP00000296266.3:p.Gln1056Ter
ENST00000347300.6:c.2836C>T	ENSP00000323973.3:p.Gln946Ter
ENST00000348417.6:c.3013C>T	ENSP00000324005.3:p.Gln1005Ter
ENST00000349441.6:c.2683C>T	ENSP00000324165.3:p.Gln895Ter
ENST00000431818.6:c.2563C>T	ENSP00000410946.2:p.Gln855Ter
ENST00000431818.8:c.*2275C>T	ENSP00000410946.3:n.*2275C>T
ENST00000440957.6:c.2386C>T	ENSP00000401569.2:p.Gln796Ter
ENST00000440957.7:c.*2334C>T	ENSP00000401569.3:n.*2334C>T
ENST00000504021.5:c.2644C>T	ENSP00000422179.1:p.Gln882Ter
ENST00000504021.6:c.2629C>T	ENSP00000422179.2:p.Gln877Ter
ENST00000504444.1:n.58C>T
ENST00000504444.2:n.1023C>T
ENST00000506507.5:n.2796C>T
ENST00000507221.2:c.1099C>T	ENSP00000427515.2:p.Gln367Ter
ENST00000507564.5:c.2992C>T	ENSP00000425536.1:p.Gln998Ter
ENST00000511425.5:n.1422C>T
ENST00000512220.5:c.*2921C>T	ENSP00000421953.1:n.*2921C>T
ENST00000513190.1:n.2057C>T
ENST00000513932.2:n.1306C>T
ENST00000515783.6:c.2518C>T	ENSP00000423288.2:p.Gln840Ter
ENST00000685087.1:c.2546+2002C>T	ENSP00000509245.1:n.2546+2002C>T
ENST00000685122.1:c.1102C>T	ENSP00000510278.1:p.Gln368Ter
ENST00000685189.1:c.*2744C>T	ENSP00000510418.1:n.*2744C>T
ENST00000685282.1:c.*231C>T	ENSP00000508642.1:n.*231C>T
ENST00000685447.1:c.*133C>T	ENSP00000509155.1:n.*133C>T
ENST00000685512.1:n.3728C>T
ENST00000685621.1:n.2572+2002C>T
ENST00000685811.1:n.3754C>T
ENST00000685921.1:c.2725C>T	ENSP00000509914.1:p.Gln909Ter
ENST00000685939.1:c.*1433C>T	ENSP00000509414.1:n.*1433C>T
ENST00000686375.1:c.*1436C>T	ENSP00000510777.1:n.*1436C>T
ENST00000686473.1:c.2671C>T	ENSP00000508526.1:p.Gln891Ter
ENST00000686531.1:c.2617C>T	ENSP00000510570.1:p.Gln873Ter
ENST00000686614.1:n.1560C>T
ENST00000686830.1:c.2674C>T	ENSP00000510002.1:p.Gln892Ter
ENST00000687377.1:c.2962C>T	ENSP00000509225.1:p.Gln988Ter
ENST00000687398.1:c.*2471C>T	ENSP00000510191.1:n.*2471C>T
ENST00000687461.1:n.3375C>T
ENST00000687645.1:c.3011C>T	ENSP00000510672.1:p.Ala1004Val
ENST00000687766.1:c.*605C>T	ENSP00000509886.1:n.*605C>T
ENST00000687791.1:c.*98C>T	ENSP00000509224.1:n.*98C>T
ENST00000687845.1:c.2523C>T	ENSP00000508687.1:n.2523C>T
ENST00000687864.1:n.3033C>T
ENST00000688020.1:c.2857C>T	ENSP00000508904.1:p.Gln953Ter
ENST00000688129.1:c.*2615C>T	ENSP00000509382.1:n.*2615C>T
ENST00000688266.1:n.2526C>T
ENST00000688392.1:n.3427C>T
ENST00000688504.1:n.2979C>T
ENST00000688527.1:c.1156C>T	ENSP00000508740.1:p.Gln386Ter
ENST00000688657.1:c.991C>T	ENSP00000508933.1:p.Gln331Ter
ENST00000688664.1:c.*2261C>T	ENSP00000510359.1:n.*2261C>T
ENST00000689005.1:c.2536C>T	ENSP00000510168.1:p.Gln846Ter
ENST00000689313.1:c.2989C>T	ENSP00000509012.1:p.Gln997Ter
ENST00000689332.1:c.2839C>T	ENSP00000510425.1:p.Gln947Ter
ENST00000689384.1:n.3580C>T
ENST00000689492.1:c.2689C>T	ENSP00000510239.1:p.Gln897Ter
ENST00000689643.1:c.3013C>T	ENSP00000509801.1:p.Gln1005Ter
ENST00000689796.1:c.2677C>T	ENSP00000509716.1:p.Gln893Ter
ENST00000689801.1:c.2785C>T	ENSP00000509982.1:p.Gln929Ter
ENST00000689871.1:c.2785C>T	ENSP00000510412.1:p.Gln929Ter
ENST00000689884.1:n.2000C>T
ENST00000690209.1:c.2813+2002C>T	ENSP00000509005.1:n.2813+2002C>T
ENST00000690617.1:n.2950C>T
ENST00000690657.1:c.1153C>T	ENSP00000510699.1:p.Gln385Ter
ENST00000690663.1:c.2626C>T	ENSP00000509297.1:p.Gln876Ter
ENST00000690677.1:c.*2295C>T	ENSP00000510036.1:n.*2295C>T
ENST00000690723.1:c.*98C>T	ENSP00000508811.1:n.*98C>T
ENST00000690862.1:c.2782C>T	ENSP00000509210.1:p.Gln928Ter
ENST00000691148.1:n.3480C>T
ENST00000691360.1:c.*2439C>T	ENSP00000510040.1:n.*2439C>T
ENST00000691583.1:c.2782C>T	ENSP00000510741.1:p.Gln928Ter
ENST00000691641.1:c.*2561C>T	ENSP00000509350.1:n.*2561C>T
ENST00000691705.1:c.2810+2002C>T	ENSP00000510077.1:n.2810+2002C>T
ENST00000691733.1:c.2836C>T	ENSP00000509735.1:p.Gln946Ter
ENST00000691770.1:c.*365C>T	ENSP00000510126.1:n.*365C>T
ENST00000691964.1:c.2782C>T	ENSP00000509094.1:p.Gln928Ter
ENST00000692228.1:c.*1910C>T	ENSP00000508464.1:n.*1910C>T
ENST00000692242.1:c.3016C>T	ENSP00000509878.1:p.Gln1006Ter
ENST00000692321.1:c.2332C>T	ENSP00000508614.1:p.Gln778Ter
ENST00000692391.1:c.*24C>T	ENSP00000509211.1:n.*24C>T
ENST00000692508.1:n.3660C>T
ENST00000692728.1:c.2332C>T	ENSP00000510105.1:p.Gln778Ter
ENST00000692901.1:c.2605C>T	ENSP00000510339.1:p.Gln869Ter
ENST00000692929.1:n.1867C>T
ENST00000692985.1:c.*2553C>T	ENSP00000510460.1:n.*2553C>T
ENST00000693114.1:c.*1850C>T	ENSP00000508738.1:n.*1850C>T
ENST00000693129.1:c.2959C>T	ENSP00000509806.1:p.Gln987Ter
ENST00000693162.1:c.*24C>T	ENSP00000509103.1:n.*24C>T
ENST00000693233.1:c.2386C>T	ENSP00000509186.1:p.Gln796Ter
ENST00000693489.1:c.2950C>T	ENSP00000509656.1:p.Gln984Ter
ENST00000693588.1:c.2680C>T	ENSP00000509216.1:p.Gln894Ter
ENST00000693654.1:n.3250C>T
XM_005247609.1:c.2839C>T	XP_005247666.1:p.Gln947Ter
XM_005247609.2:c.2839C>T	XP_005247666.1:p.Gln947Ter
XM_006713689.1:c.3016C>T	XP_006713752.1:p.Gln1006Ter
XM_006713689.2:c.3016C>T	XP_006713752.1:p.Gln1006Ter
XM_006713691.2:c.2962C>T	XP_006713754.1:p.Gln988Ter
XM_006713691.3:c.2962C>T	XP_006713754.1:p.Gln988Ter
XM_006713692.2:c.2785C>T	XP_006713755.1:p.Gln929Ter
XM_006713692.3:c.2785C>T	XP_006713755.1:p.Gln929Ter
XM_011512967.1:c.2860C>T	XP_011511269.1:p.Gln954Ter
XM_011512968.1:c.2566C>T	XP_011511270.1:p.Gln856Ter
XM_011512969.1:c.2566C>T	XP_011511271.1:p.Gln856Ter
XM_011512970.1:c.2566C>T	XP_011511272.1:p.Gln856Ter
XM_011512971.1:c.2389C>T	XP_011511273.1:p.Gln797Ter
XM_011512973.1:c.1612C>T	XP_011511275.1:p.Gln538Ter
XM_017006817.2:c.3016C>T	XP_016862306.1:p.Gln1006Ter
XM_017006818.2:c.3013C>T	XP_016862307.1:p.Gln1005Ter
XM_017006819.2:c.2962C>T	XP_016862308.1:p.Gln988Ter
XM_017006820.2:c.2959C>T	XP_016862309.1:p.Gln987Ter
XM_017006821.2:c.2959C>T	XP_016862310.1:p.Gln987Ter
XM_017006822.2:c.2860C>T	XP_016862311.1:p.Gln954Ter
XM_017006823.2:c.2839C>T	XP_016862312.1:p.Gln947Ter
XM_017006824.2:c.2836C>T	XP_016862313.1:p.Gln946Ter
XM_017006825.2:c.2785C>T	XP_016862314.1:p.Gln929Ter
XM_017006826.2:c.2782C>T	XP_016862315.1:p.Gln928Ter
XM_017006827.2:c.2782C>T	XP_016862316.1:p.Gln928Ter
XM_017006828.2:c.2683C>T	XP_016862317.1:p.Gln895Ter
XM_017006829.2:c.2680C>T	XP_016862318.1:p.Gln894Ter
XM_017006830.2:c.2566C>T	XP_016862319.1:p.Gln856Ter
XM_017006831.1:c.2566C>T	XP_016862320.1:p.Gln856Ter
XM_017006832.1:c.2566C>T	XP_016862321.1:p.Gln856Ter
XM_017006833.2:c.2629C>T	XP_016862322.1:p.Gln877Ter
XM_017006834.2:c.2626C>T	XP_016862323.1:p.Gln876Ter
XM_017006835.1:c.2389C>T	XP_016862324.1:p.Gln797Ter
XM_017006836.2:c.2335C>T	XP_016862325.1:p.Gln779Ter
XM_017006837.1:c.1612C>T	XP_016862326.1:p.Gln538Ter
XM_017006838.2:c.1609C>T	XP_016862327.1:p.Gln537Ter
XM_024453639.1:c.2059C>T	XP_024309407.1:p.Gln687Ter