Canonical Allele Identifier: CA2606595

Gene: IFT122

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129504414C>T , CM000665.2:g.129504414C>T	GRCh38
NC_000003.11:g.129223257C>T , CM000665.1:g.129223257C>T	GRCh37
NC_000003.10:g.130705947C>T	NCBI36
NG_023392.1:g.69290C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_052989.3:c.2643C>T MANE Select	NP_443715.1:p.Ala881=
ENST00000348417.7:c.2643C>T MANE Select	ENSP00000324005.4:p.Ala881=
NM_001280541.1:c.2619C>T	NP_001267470.1:p.Ala873=
NM_001280541.2:c.2619C>T	NP_001267470.1:p.Ala873=
NM_001280545.1:c.2193C>T	NP_001267474.1:p.Ala731=
NM_001280545.2:c.2193C>T	NP_001267474.1:p.Ala731=
NM_001280546.1:c.2016C>T	NP_001267475.1:p.Ala672=
NM_001280546.2:c.2016C>T	NP_001267475.1:p.Ala672=
NM_018262.3:c.2466C>T	NP_060732.2:p.Ala822=
NM_018262.4:c.2466C>T	NP_060732.2:p.Ala822=
NM_052985.3:c.2796C>T	NP_443711.2:p.Ala932=
NM_052985.4:c.2796C>T	NP_443711.2:p.Ala932=
NM_052989.2:c.2643C>T	NP_443715.1:p.Ala881=
NM_052990.2:c.2310C>T	NP_443716.1:p.Ala770=
NM_052990.3:c.2310C>T	NP_443716.1:p.Ala770=
ENST00000296266.7:c.2796C>T	ENSP00000296266.3:p.Ala932=
ENST00000347300.6:c.2466C>T	ENSP00000323973.3:p.Ala822=
ENST00000348417.6:c.2643C>T	ENSP00000324005.3:p.Ala881=
ENST00000349441.6:c.2310C>T	ENSP00000324165.3:p.Ala770=
ENST00000431818.6:c.2193C>T	ENSP00000410946.2:p.Ala731=
ENST00000431818.8:c.*1853C>T	ENSP00000410946.3:n.*1853C>T
ENST00000440957.6:c.2016C>T	ENSP00000401569.2:p.Ala672=
ENST00000440957.7:c.*1964C>T	ENSP00000401569.3:n.*1964C>T
ENST00000504021.5:c.2271C>T	ENSP00000422179.1:p.Ala757=
ENST00000504021.6:c.2256C>T	ENSP00000422179.2:p.Ala752=
ENST00000506507.5:n.2426C>T
ENST00000507221.2:c.729C>T	ENSP00000427515.2:p.Ala243=
ENST00000507564.5:c.2619C>T	ENSP00000425536.1:p.Ala873=
ENST00000509522.5:c.1134C>T	ENSP00000424727.1:p.Ala378=
ENST00000511425.5:n.1052C>T
ENST00000512220.5:c.*2551C>T	ENSP00000421953.1:n.*2551C>T
ENST00000513932.2:n.933C>T
ENST00000515783.6:c.2148C>T	ENSP00000423288.2:p.Ala716=
ENST00000685087.1:c.2199C>T	ENSP00000509245.1:p.Ala733=
ENST00000685122.1:c.729C>T	ENSP00000510278.1:p.Ala243=
ENST00000685189.1:c.*2374C>T	ENSP00000510418.1:n.*2374C>T
ENST00000685282.1:c.2547+1532C>T	ENSP00000508642.1:n.2547+1532C>T
ENST00000685447.1:c.2316+1532C>T	ENSP00000509155.1:n.2316+1532C>T
ENST00000685512.1:n.3190C>T
ENST00000685811.1:n.3381C>T
ENST00000685921.1:c.2355C>T	ENSP00000509914.1:p.Ala785=
ENST00000685939.1:c.*1063C>T	ENSP00000509414.1:n.*1063C>T
ENST00000686375.1:c.*1063C>T	ENSP00000510777.1:n.*1063C>T
ENST00000686473.1:c.2301C>T	ENSP00000508526.1:p.Ala767=
ENST00000686531.1:c.2247C>T	ENSP00000510570.1:p.Ala749=
ENST00000686830.1:c.2304C>T	ENSP00000510002.1:p.Ala768=
ENST00000687377.1:c.2589C>T	ENSP00000509225.1:p.Ala863=
ENST00000687398.1:c.*2101C>T	ENSP00000510191.1:n.*2101C>T
ENST00000687461.1:n.3005C>T
ENST00000687645.1:c.2643C>T	ENSP00000510672.1:p.Ala881=
ENST00000687766.1:c.1962C>T	ENSP00000509886.1:p.Ala654=
ENST00000687791.1:c.2412C>T	ENSP00000509224.1:p.Ala804=
ENST00000687845.1:c.2160+1532C>T	ENSP00000508687.1:n.2160+1532C>T
ENST00000687864.1:n.2663C>T
ENST00000688020.1:c.2487C>T	ENSP00000508904.1:p.Ala829=
ENST00000688129.1:c.*2245C>T	ENSP00000509382.1:n.*2245C>T
ENST00000688266.1:n.2251C>T
ENST00000688392.1:n.3054C>T
ENST00000688504.1:n.2609C>T
ENST00000688527.1:c.783C>T	ENSP00000508740.1:p.Ala261=
ENST00000688657.1:c.621C>T	ENSP00000508933.1:p.Ala207=
ENST00000688664.1:c.*1891C>T	ENSP00000510359.1:n.*1891C>T
ENST00000688970.1:n.2847C>T
ENST00000689005.1:c.2163C>T	ENSP00000510168.1:p.Ala721=
ENST00000689313.1:c.2619C>T	ENSP00000509012.1:p.Ala873=
ENST00000689332.1:c.2466C>T	ENSP00000510425.1:p.Ala822=
ENST00000689384.1:n.3210C>T
ENST00000689492.1:c.2319C>T	ENSP00000510239.1:p.Ala773=
ENST00000689643.1:c.2643C>T	ENSP00000509801.1:p.Ala881=
ENST00000689796.1:c.2304C>T	ENSP00000509716.1:p.Ala768=
ENST00000689801.1:c.2412C>T	ENSP00000509982.1:p.Ala804=
ENST00000689871.1:c.2412C>T	ENSP00000510412.1:p.Ala804=
ENST00000690209.1:c.2466C>T	ENSP00000509005.1:p.Ala822=
ENST00000690617.1:n.2580C>T
ENST00000690657.1:c.783C>T	ENSP00000510699.1:p.Ala261=
ENST00000690663.1:c.2256C>T	ENSP00000509297.1:p.Ala752=
ENST00000690677.1:c.*1803C>T	ENSP00000510036.1:n.*1803C>T
ENST00000690723.1:c.2466C>T	ENSP00000508811.1:p.Ala822=
ENST00000690862.1:c.2412C>T	ENSP00000509210.1:p.Ala804=
ENST00000691148.1:n.3110C>T
ENST00000691360.1:c.*2069C>T	ENSP00000510040.1:n.*2069C>T
ENST00000691583.1:c.2412C>T	ENSP00000510741.1:p.Ala804=
ENST00000691641.1:c.*2191C>T	ENSP00000509350.1:n.*2191C>T
ENST00000691705.1:c.2466C>T	ENSP00000510077.1:p.Ala822=
ENST00000691733.1:c.2466C>T	ENSP00000509735.1:p.Ala822=
ENST00000691770.1:c.2412C>T	ENSP00000510126.1:p.Ala804=
ENST00000691964.1:c.2412C>T	ENSP00000509094.1:p.Ala804=
ENST00000692228.1:c.*1540C>T	ENSP00000508464.1:n.*1540C>T
ENST00000692242.1:c.2643C>T	ENSP00000509878.1:p.Ala881=
ENST00000692321.1:c.1962C>T	ENSP00000508614.1:p.Ala654=
ENST00000692391.1:c.2466C>T	ENSP00000509211.1:p.Ala822=
ENST00000692508.1:n.3290C>T
ENST00000692728.1:c.1962C>T	ENSP00000510105.1:p.Ala654=
ENST00000692901.1:c.2235C>T	ENSP00000510339.1:p.Ala745=
ENST00000692929.1:n.1497C>T
ENST00000692985.1:c.*2278C>T	ENSP00000510460.1:n.*2278C>T
ENST00000693114.1:c.*1477C>T	ENSP00000508738.1:n.*1477C>T
ENST00000693129.1:c.2589C>T	ENSP00000509806.1:p.Ala863=
ENST00000693162.1:c.2466C>T	ENSP00000509103.1:p.Ala822=
ENST00000693233.1:c.2016C>T	ENSP00000509186.1:p.Ala672=
ENST00000693489.1:c.2580C>T	ENSP00000509656.1:p.Ala860=
ENST00000693588.1:c.2310C>T	ENSP00000509216.1:p.Ala770=
ENST00000693654.1:n.2880C>T
XM_005247609.1:c.2466C>T	XP_005247666.1:p.Ala822=
XM_005247609.2:c.2466C>T	XP_005247666.1:p.Ala822=
XM_006713689.1:c.2643C>T	XP_006713752.1:p.Ala881=
XM_006713689.2:c.2643C>T	XP_006713752.1:p.Ala881=
XM_006713691.2:c.2589C>T	XP_006713754.1:p.Ala863=
XM_006713691.3:c.2589C>T	XP_006713754.1:p.Ala863=
XM_006713692.2:c.2412C>T	XP_006713755.1:p.Ala804=
XM_006713692.3:c.2412C>T	XP_006713755.1:p.Ala804=
XM_011512967.1:c.2487C>T	XP_011511269.1:p.Ala829=
XM_011512968.1:c.2193C>T	XP_011511270.1:p.Ala731=
XM_011512969.1:c.2193C>T	XP_011511271.1:p.Ala731=
XM_011512970.1:c.2193C>T	XP_011511272.1:p.Ala731=
XM_011512971.1:c.2016C>T	XP_011511273.1:p.Ala672=
XM_011512972.1:c.2643C>T	XP_011511274.1:p.Ala881=
XM_011512972.3:c.2643C>T	XP_011511274.1:p.Ala881=
XM_011512973.1:c.1239C>T	XP_011511275.1:p.Ala413=
XM_017006817.2:c.2643C>T	XP_016862306.1:p.Ala881=
XM_017006818.2:c.2643C>T	XP_016862307.1:p.Ala881=
XM_017006819.2:c.2589C>T	XP_016862308.1:p.Ala863=
XM_017006820.2:c.2589C>T	XP_016862309.1:p.Ala863=
XM_017006821.2:c.2589C>T	XP_016862310.1:p.Ala863=
XM_017006822.2:c.2487C>T	XP_016862311.1:p.Ala829=
XM_017006823.2:c.2466C>T	XP_016862312.1:p.Ala822=
XM_017006824.2:c.2466C>T	XP_016862313.1:p.Ala822=
XM_017006825.2:c.2412C>T	XP_016862314.1:p.Ala804=
XM_017006826.2:c.2412C>T	XP_016862315.1:p.Ala804=
XM_017006827.2:c.2412C>T	XP_016862316.1:p.Ala804=
XM_017006828.2:c.2310C>T	XP_016862317.1:p.Ala770=
XM_017006829.2:c.2310C>T	XP_016862318.1:p.Ala770=
XM_017006830.2:c.2193C>T	XP_016862319.1:p.Ala731=
XM_017006831.1:c.2193C>T	XP_016862320.1:p.Ala731=
XM_017006832.1:c.2193C>T	XP_016862321.1:p.Ala731=
XM_017006833.2:c.2256C>T	XP_016862322.1:p.Ala752=
XM_017006834.2:c.2256C>T	XP_016862323.1:p.Ala752=
XM_017006835.1:c.2016C>T	XP_016862324.1:p.Ala672=
XM_017006836.2:c.1962C>T	XP_016862325.1:p.Ala654=
XM_017006837.1:c.1239C>T	XP_016862326.1:p.Ala413=
XM_017006838.2:c.1239C>T	XP_016862327.1:p.Ala413=
XM_024453639.1:c.1686C>T	XP_024309407.1:p.Ala562=