Canonical Allele Identifier: CA354487784

Gene: IFT122

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129515514C>A , CM000665.2:g.129515514C>A	GRCh38
NC_000003.11:g.129234357C>A , CM000665.1:g.129234357C>A	GRCh37
NC_000003.10:g.130717047C>A	NCBI36
NG_023392.1:g.80390C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_052989.3:c.3180C>A MANE Select	NP_443715.1:p.Cys1060Ter
ENST00000348417.7:c.3180C>A MANE Select	ENSP00000324005.4:p.Cys1060Ter
NM_001280541.1:c.3159C>A	NP_001267470.1:p.Cys1053Ter
NM_001280541.2:c.3159C>A	NP_001267470.1:p.Cys1053Ter
NM_001280545.1:c.2730C>A	NP_001267474.1:p.Cys910Ter
NM_001280545.2:c.2730C>A	NP_001267474.1:p.Cys910Ter
NM_001280546.1:c.2553C>A	NP_001267475.1:p.Cys851Ter
NM_001280546.2:c.2553C>A	NP_001267475.1:p.Cys851Ter
NM_018262.3:c.3003C>A	NP_060732.2:p.Cys1001Ter
NM_018262.4:c.3003C>A	NP_060732.2:p.Cys1001Ter
NM_052985.3:c.3333C>A	NP_443711.2:p.Cys1111Ter
NM_052985.4:c.3333C>A	NP_443711.2:p.Cys1111Ter
NM_052989.2:c.3180C>A	NP_443715.1:p.Cys1060Ter
NM_052990.2:c.2850C>A	NP_443716.1:p.Cys950Ter
NM_052990.3:c.2850C>A	NP_443716.1:p.Cys950Ter
ENST00000296266.7:c.3333C>A	ENSP00000296266.3:p.Cys1111Ter
ENST00000347300.6:c.3003C>A	ENSP00000323973.3:p.Cys1001Ter
ENST00000348417.6:c.3180C>A	ENSP00000324005.3:p.Cys1060Ter
ENST00000349441.6:c.2850C>A	ENSP00000324165.3:p.Cys950Ter
ENST00000431818.6:c.2730C>A	ENSP00000410946.2:p.Cys910Ter
ENST00000431818.8:c.*2442C>A	ENSP00000410946.3:n.*2442C>A
ENST00000440957.6:c.2553C>A	ENSP00000401569.2:p.Cys851Ter
ENST00000440957.7:c.*2501C>A	ENSP00000401569.3:n.*2501C>A
ENST00000504021.5:c.2811C>A	ENSP00000422179.1:p.Cys937Ter
ENST00000504021.6:c.2796C>A	ENSP00000422179.2:p.Cys932Ter
ENST00000504444.2:n.2123C>A
ENST00000506507.5:n.3896C>A
ENST00000507221.2:c.1266C>A	ENSP00000427515.2:p.Cys422Ter
ENST00000507564.5:c.3159C>A	ENSP00000425536.1:p.Cys1053Ter
ENST00000511425.5:n.1589C>A
ENST00000512220.5:c.*3088C>A	ENSP00000421953.1:n.*3088C>A
ENST00000513190.1:n.2224C>A
ENST00000513932.2:n.1473C>A
ENST00000515783.6:c.2685C>A	ENSP00000423288.2:p.Cys895Ter
ENST00000685087.1:c.2546+3102C>A	ENSP00000509245.1:n.2546+3102C>A
ENST00000685122.1:c.1269C>A	ENSP00000510278.1:p.Cys423Ter
ENST00000685189.1:c.*2911C>A	ENSP00000510418.1:n.*2911C>A
ENST00000685282.1:c.*398C>A	ENSP00000508642.1:n.*398C>A
ENST00000685447.1:c.*300C>A	ENSP00000509155.1:n.*300C>A
ENST00000685512.1:n.3983C>A
ENST00000685621.1:n.2572+3102C>A
ENST00000685811.1:n.3921C>A
ENST00000685921.1:c.2892C>A	ENSP00000509914.1:p.Cys964Ter
ENST00000685939.1:c.*1600C>A	ENSP00000509414.1:n.*1600C>A
ENST00000686375.1:c.*1621C>A	ENSP00000510777.1:n.*1621C>A
ENST00000686473.1:c.2838C>A	ENSP00000508526.1:p.Cys946Ter
ENST00000686531.1:c.2784C>A	ENSP00000510570.1:p.Cys928Ter
ENST00000686614.1:n.1904C>A
ENST00000686830.1:c.2841C>A	ENSP00000510002.1:p.Cys947Ter
ENST00000687377.1:c.3129C>A	ENSP00000509225.1:p.Cys1043Ter
ENST00000687398.1:c.*2638C>A	ENSP00000510191.1:n.*2638C>A
ENST00000687461.1:n.3542C>A
ENST00000687645.1:c.*121C>A	ENSP00000510672.1:n.*121C>A
ENST00000687766.1:c.*772C>A	ENSP00000509886.1:n.*772C>A
ENST00000687791.1:c.*265C>A	ENSP00000509224.1:n.*265C>A
ENST00000687845.1:c.2690C>A	ENSP00000508687.1:n.2690C>A
ENST00000687864.1:n.4133C>A
ENST00000688020.1:c.3024C>A	ENSP00000508904.1:p.Cys1008Ter
ENST00000688129.1:c.*2782C>A	ENSP00000509382.1:n.*2782C>A
ENST00000688266.1:n.2693C>A
ENST00000688392.1:n.3594C>A
ENST00000688504.1:n.4079C>A
ENST00000688527.1:c.1323C>A	ENSP00000508740.1:p.Cys441Ter
ENST00000688657.1:c.1158C>A	ENSP00000508933.1:p.Cys386Ter
ENST00000688664.1:c.*2428C>A	ENSP00000510359.1:n.*2428C>A
ENST00000689005.1:c.2703C>A	ENSP00000510168.1:p.Cys901Ter
ENST00000689313.1:c.3156C>A	ENSP00000509012.1:p.Cys1052Ter
ENST00000689332.1:c.3006C>A	ENSP00000510425.1:p.Cys1002Ter
ENST00000689384.1:n.3747C>A
ENST00000689492.1:c.2856C>A	ENSP00000510239.1:p.Cys952Ter
ENST00000689643.1:c.3180C>A	ENSP00000509801.1:p.Cys1060Ter
ENST00000689796.1:c.2844C>A	ENSP00000509716.1:p.Cys948Ter
ENST00000689801.1:c.2952C>A	ENSP00000509982.1:p.Cys984Ter
ENST00000689871.1:c.*96C>A	ENSP00000510412.1:n.*96C>A
ENST00000689884.1:n.2167C>A
ENST00000690209.1:c.2813+3102C>A	ENSP00000509005.1:n.2813+3102C>A
ENST00000690617.1:n.3117C>A
ENST00000690657.1:c.1320C>A	ENSP00000510699.1:p.Cys440Ter
ENST00000690663.1:c.2793C>A	ENSP00000509297.1:p.Cys931Ter
ENST00000690677.1:c.*2462C>A	ENSP00000510036.1:n.*2462C>A
ENST00000690723.1:c.*265C>A	ENSP00000508811.1:n.*265C>A
ENST00000690862.1:c.2949C>A	ENSP00000509210.1:p.Cys983Ter
ENST00000691148.1:n.3647C>A
ENST00000691360.1:c.*2606C>A	ENSP00000510040.1:n.*2606C>A
ENST00000691583.1:c.2949C>A	ENSP00000510741.1:p.Cys983Ter
ENST00000691641.1:c.*2728C>A	ENSP00000509350.1:n.*2728C>A
ENST00000691705.1:c.2810+3102C>A	ENSP00000510077.1:n.2810+3102C>A
ENST00000691733.1:c.3003C>A	ENSP00000509735.1:p.Cys1001Ter
ENST00000691770.1:c.*532C>A	ENSP00000510126.1:n.*532C>A
ENST00000691964.1:c.2946C>A	ENSP00000509094.1:p.Cys982Ter
ENST00000692228.1:c.*2077C>A	ENSP00000508464.1:n.*2077C>A
ENST00000692242.1:c.3183C>A	ENSP00000509878.1:p.Cys1061Ter
ENST00000692321.1:c.2499C>A	ENSP00000508614.1:p.Cys833Ter
ENST00000692391.1:c.*191C>A	ENSP00000509211.1:n.*191C>A
ENST00000692508.1:n.3827C>A
ENST00000692728.1:c.2499C>A	ENSP00000510105.1:p.Cys833Ter
ENST00000692901.1:c.2772C>A	ENSP00000510339.1:p.Cys924Ter
ENST00000692929.1:n.2034C>A
ENST00000692985.1:c.*2720C>A	ENSP00000510460.1:n.*2720C>A
ENST00000693114.1:c.*2017C>A	ENSP00000508738.1:n.*2017C>A
ENST00000693129.1:c.3126C>A	ENSP00000509806.1:p.Cys1042Ter
ENST00000693162.1:c.*191C>A	ENSP00000509103.1:n.*191C>A
ENST00000693233.1:c.2553C>A	ENSP00000509186.1:p.Cys851Ter
ENST00000693489.1:c.3117C>A	ENSP00000509656.1:p.Cys1039Ter
ENST00000693588.1:c.2847C>A	ENSP00000509216.1:p.Cys949Ter
ENST00000693654.1:n.3417C>A
XM_005247609.1:c.3006C>A	XP_005247666.1:p.Cys1002Ter
XM_005247609.2:c.3006C>A	XP_005247666.1:p.Cys1002Ter
XM_006713689.1:c.3183C>A	XP_006713752.1:p.Cys1061Ter
XM_006713689.2:c.3183C>A	XP_006713752.1:p.Cys1061Ter
XM_006713691.2:c.3129C>A	XP_006713754.1:p.Cys1043Ter
XM_006713691.3:c.3129C>A	XP_006713754.1:p.Cys1043Ter
XM_006713692.2:c.2952C>A	XP_006713755.1:p.Cys984Ter
XM_006713692.3:c.2952C>A	XP_006713755.1:p.Cys984Ter
XM_011512967.1:c.3027C>A	XP_011511269.1:p.Cys1009Ter
XM_011512968.1:c.2733C>A	XP_011511270.1:p.Cys911Ter
XM_011512969.1:c.2733C>A	XP_011511271.1:p.Cys911Ter
XM_011512970.1:c.2733C>A	XP_011511272.1:p.Cys911Ter
XM_011512971.1:c.2556C>A	XP_011511273.1:p.Cys852Ter
XM_011512973.1:c.1779C>A	XP_011511275.1:p.Cys593Ter
XM_017006817.2:c.3183C>A	XP_016862306.1:p.Cys1061Ter
XM_017006818.2:c.3180C>A	XP_016862307.1:p.Cys1060Ter
XM_017006819.2:c.3129C>A	XP_016862308.1:p.Cys1043Ter
XM_017006820.2:c.3126C>A	XP_016862309.1:p.Cys1042Ter
XM_017006821.2:c.3126C>A	XP_016862310.1:p.Cys1042Ter
XM_017006822.2:c.3027C>A	XP_016862311.1:p.Cys1009Ter
XM_017006823.2:c.3006C>A	XP_016862312.1:p.Cys1002Ter
XM_017006824.2:c.3003C>A	XP_016862313.1:p.Cys1001Ter
XM_017006825.2:c.2952C>A	XP_016862314.1:p.Cys984Ter
XM_017006826.2:c.2949C>A	XP_016862315.1:p.Cys983Ter
XM_017006827.2:c.2949C>A	XP_016862316.1:p.Cys983Ter
XM_017006828.2:c.2850C>A	XP_016862317.1:p.Cys950Ter
XM_017006829.2:c.2847C>A	XP_016862318.1:p.Cys949Ter
XM_017006830.2:c.2733C>A	XP_016862319.1:p.Cys911Ter
XM_017006831.1:c.2733C>A	XP_016862320.1:p.Cys911Ter
XM_017006832.1:c.2733C>A	XP_016862321.1:p.Cys911Ter
XM_017006833.2:c.2796C>A	XP_016862322.1:p.Cys932Ter
XM_017006834.2:c.2793C>A	XP_016862323.1:p.Cys931Ter
XM_017006835.1:c.2556C>A	XP_016862324.1:p.Cys852Ter
XM_017006836.2:c.2502C>A	XP_016862325.1:p.Cys834Ter
XM_017006837.1:c.1779C>A	XP_016862326.1:p.Cys593Ter
XM_017006838.2:c.1776C>A	XP_016862327.1:p.Cys592Ter
XM_024453639.1:c.2226C>A	XP_024309407.1:p.Cys742Ter