Canonical Allele Identifier: CA2606741

Gene: IFT122

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129514383C>T , CM000665.2:g.129514383C>T	GRCh38
NC_000003.11:g.129233226C>T , CM000665.1:g.129233226C>T	GRCh37
NC_000003.10:g.130715916C>T	NCBI36
NG_023392.1:g.79259C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_052989.3:c.2988-6C>T MANE Select	NP_443715.1:n.2988-6C>T
ENST00000348417.7:c.2988-6C>T MANE Select	ENSP00000324005.4:n.2988-6C>T
NM_001280541.1:c.2967-6C>T	NP_001267470.1:n.2967-6C>T
NM_001280541.2:c.2967-6C>T	NP_001267470.1:n.2967-6C>T
NM_001280545.1:c.2538-6C>T	NP_001267474.1:n.2538-6C>T
NM_001280545.2:c.2538-6C>T	NP_001267474.1:n.2538-6C>T
NM_001280546.1:c.2361-6C>T	NP_001267475.1:n.2361-6C>T
NM_001280546.2:c.2361-6C>T	NP_001267475.1:n.2361-6C>T
NM_018262.3:c.2811-6C>T	NP_060732.2:n.2811-6C>T
NM_018262.4:c.2811-6C>T	NP_060732.2:n.2811-6C>T
NM_052985.3:c.3141-6C>T	NP_443711.2:n.3141-6C>T
NM_052985.4:c.3141-6C>T	NP_443711.2:n.3141-6C>T
NM_052989.2:c.2988-6C>T	NP_443715.1:n.2988-6C>T
NM_052990.2:c.2658-6C>T	NP_443716.1:n.2658-6C>T
NM_052990.3:c.2658-6C>T	NP_443716.1:n.2658-6C>T
ENST00000296266.7:c.3141-6C>T	ENSP00000296266.3:n.3141-6C>T
ENST00000347300.6:c.2811-6C>T	ENSP00000323973.3:n.2811-6C>T
ENST00000348417.6:c.2988-6C>T	ENSP00000324005.3:n.2988-6C>T
ENST00000349441.6:c.2658-6C>T	ENSP00000324165.3:n.2658-6C>T
ENST00000431818.6:c.2538-6C>T	ENSP00000410946.2:n.2538-6C>T
ENST00000431818.8:c.*2250-6C>T	ENSP00000410946.3:n.*2250-6C>T
ENST00000440957.6:c.2361-6C>T	ENSP00000401569.2:n.2361-6C>T
ENST00000440957.7:c.*2309-6C>T	ENSP00000401569.3:n.*2309-6C>T
ENST00000504021.5:c.2619-6C>T	ENSP00000422179.1:n.2619-6C>T
ENST00000504021.6:c.2604-6C>T	ENSP00000422179.2:n.2604-6C>T
ENST00000504444.1:n.33-6C>T
ENST00000504444.2:n.998-6C>T
ENST00000506507.5:n.2771-6C>T
ENST00000507221.2:c.1074-6C>T	ENSP00000427515.2:n.1074-6C>T
ENST00000507564.5:c.2967-6C>T	ENSP00000425536.1:n.2967-6C>T
ENST00000511425.5:n.1397-6C>T
ENST00000512220.5:c.*2896-6C>T	ENSP00000421953.1:n.*2896-6C>T
ENST00000513190.1:n.2026C>T
ENST00000513932.2:n.1281-6C>T
ENST00000515783.6:c.2493-6C>T	ENSP00000423288.2:n.2493-6C>T
ENST00000685087.1:c.2546+1971C>T	ENSP00000509245.1:n.2546+1971C>T
ENST00000685122.1:c.1077-6C>T	ENSP00000510278.1:n.1077-6C>T
ENST00000685189.1:c.*2719-6C>T	ENSP00000510418.1:n.*2719-6C>T
ENST00000685282.1:c.*206-6C>T	ENSP00000508642.1:n.*206-6C>T
ENST00000685447.1:c.*108-6C>T	ENSP00000509155.1:n.*108-6C>T
ENST00000685512.1:n.3703-6C>T
ENST00000685621.1:n.2572+1971C>T
ENST00000685811.1:n.3729-6C>T
ENST00000685921.1:c.2700-6C>T	ENSP00000509914.1:n.2700-6C>T
ENST00000685939.1:c.*1408-6C>T	ENSP00000509414.1:n.*1408-6C>T
ENST00000686375.1:c.*1411-6C>T	ENSP00000510777.1:n.*1411-6C>T
ENST00000686473.1:c.2646-6C>T	ENSP00000508526.1:n.2646-6C>T
ENST00000686531.1:c.2592-6C>T	ENSP00000510570.1:n.2592-6C>T
ENST00000686614.1:n.1535-6C>T
ENST00000686830.1:c.2649-6C>T	ENSP00000510002.1:n.2649-6C>T
ENST00000687377.1:c.2937-6C>T	ENSP00000509225.1:n.2937-6C>T
ENST00000687398.1:c.*2446-6C>T	ENSP00000510191.1:n.*2446-6C>T
ENST00000687461.1:n.3350-6C>T
ENST00000687645.1:c.2986-6C>T	ENSP00000510672.1:n.2986-6C>T
ENST00000687766.1:c.*580-6C>T	ENSP00000509886.1:n.*580-6C>T
ENST00000687791.1:c.*73-6C>T	ENSP00000509224.1:n.*73-6C>T
ENST00000687845.1:c.2498-6C>T	ENSP00000508687.1:n.2498-6C>T
ENST00000687864.1:n.3008-6C>T
ENST00000688020.1:c.2832-6C>T	ENSP00000508904.1:n.2832-6C>T
ENST00000688129.1:c.*2590-6C>T	ENSP00000509382.1:n.*2590-6C>T
ENST00000688266.1:n.2501-6C>T
ENST00000688392.1:n.3402-6C>T
ENST00000688504.1:n.2954-6C>T
ENST00000688527.1:c.1131-6C>T	ENSP00000508740.1:n.1131-6C>T
ENST00000688657.1:c.966-6C>T	ENSP00000508933.1:n.966-6C>T
ENST00000688664.1:c.*2236-6C>T	ENSP00000510359.1:n.*2236-6C>T
ENST00000689005.1:c.2511-6C>T	ENSP00000510168.1:n.2511-6C>T
ENST00000689313.1:c.2964-6C>T	ENSP00000509012.1:n.2964-6C>T
ENST00000689332.1:c.2814-6C>T	ENSP00000510425.1:n.2814-6C>T
ENST00000689384.1:n.3555-6C>T
ENST00000689492.1:c.2664-6C>T	ENSP00000510239.1:n.2664-6C>T
ENST00000689643.1:c.2988-6C>T	ENSP00000509801.1:n.2988-6C>T
ENST00000689796.1:c.2652-6C>T	ENSP00000509716.1:n.2652-6C>T
ENST00000689801.1:c.2760-6C>T	ENSP00000509982.1:n.2760-6C>T
ENST00000689871.1:c.2760-6C>T	ENSP00000510412.1:n.2760-6C>T
ENST00000689884.1:n.1975-6C>T
ENST00000690209.1:c.2813+1971C>T	ENSP00000509005.1:n.2813+1971C>T
ENST00000690617.1:n.2925-6C>T
ENST00000690657.1:c.1128-6C>T	ENSP00000510699.1:n.1128-6C>T
ENST00000690663.1:c.2601-6C>T	ENSP00000509297.1:n.2601-6C>T
ENST00000690677.1:c.*2270-6C>T	ENSP00000510036.1:n.*2270-6C>T
ENST00000690723.1:c.*73-6C>T	ENSP00000508811.1:n.*73-6C>T
ENST00000690862.1:c.2757-6C>T	ENSP00000509210.1:n.2757-6C>T
ENST00000691148.1:n.3455-6C>T
ENST00000691360.1:c.*2414-6C>T	ENSP00000510040.1:n.*2414-6C>T
ENST00000691583.1:c.2757-6C>T	ENSP00000510741.1:n.2757-6C>T
ENST00000691641.1:c.*2536-6C>T	ENSP00000509350.1:n.*2536-6C>T
ENST00000691705.1:c.2810+1971C>T	ENSP00000510077.1:n.2810+1971C>T
ENST00000691733.1:c.2811-6C>T	ENSP00000509735.1:n.2811-6C>T
ENST00000691770.1:c.*340-6C>T	ENSP00000510126.1:n.*340-6C>T
ENST00000691964.1:c.2757-6C>T	ENSP00000509094.1:n.2757-6C>T
ENST00000692228.1:c.*1885-6C>T	ENSP00000508464.1:n.*1885-6C>T
ENST00000692242.1:c.2991-6C>T	ENSP00000509878.1:n.2991-6C>T
ENST00000692321.1:c.2307-6C>T	ENSP00000508614.1:n.2307-6C>T
ENST00000692391.1:c.2930-6C>T	ENSP00000509211.1:n.2930-6C>T
ENST00000692508.1:n.3635-6C>T
ENST00000692728.1:c.2307-6C>T	ENSP00000510105.1:n.2307-6C>T
ENST00000692901.1:c.2580-6C>T	ENSP00000510339.1:n.2580-6C>T
ENST00000692929.1:n.1842-6C>T
ENST00000692985.1:c.*2528-6C>T	ENSP00000510460.1:n.*2528-6C>T
ENST00000693114.1:c.*1825-6C>T	ENSP00000508738.1:n.*1825-6C>T
ENST00000693129.1:c.2934-6C>T	ENSP00000509806.1:n.2934-6C>T
ENST00000693162.1:c.2933-6C>T	ENSP00000509103.1:n.2933-6C>T
ENST00000693233.1:c.2361-6C>T	ENSP00000509186.1:n.2361-6C>T
ENST00000693489.1:c.2925-6C>T	ENSP00000509656.1:n.2925-6C>T
ENST00000693588.1:c.2655-6C>T	ENSP00000509216.1:n.2655-6C>T
ENST00000693654.1:n.3225-6C>T
XM_005247609.1:c.2814-6C>T	XP_005247666.1:n.2814-6C>T
XM_005247609.2:c.2814-6C>T	XP_005247666.1:n.2814-6C>T
XM_006713689.1:c.2991-6C>T	XP_006713752.1:n.2991-6C>T
XM_006713689.2:c.2991-6C>T	XP_006713752.1:n.2991-6C>T
XM_006713691.2:c.2937-6C>T	XP_006713754.1:n.2937-6C>T
XM_006713691.3:c.2937-6C>T	XP_006713754.1:n.2937-6C>T
XM_006713692.2:c.2760-6C>T	XP_006713755.1:n.2760-6C>T
XM_006713692.3:c.2760-6C>T	XP_006713755.1:n.2760-6C>T
XM_011512967.1:c.2835-6C>T	XP_011511269.1:n.2835-6C>T
XM_011512968.1:c.2541-6C>T	XP_011511270.1:n.2541-6C>T
XM_011512969.1:c.2541-6C>T	XP_011511271.1:n.2541-6C>T
XM_011512970.1:c.2541-6C>T	XP_011511272.1:n.2541-6C>T
XM_011512971.1:c.2364-6C>T	XP_011511273.1:n.2364-6C>T
XM_011512973.1:c.1587-6C>T	XP_011511275.1:n.1587-6C>T
XM_017006817.2:c.2991-6C>T	XP_016862306.1:n.2991-6C>T
XM_017006818.2:c.2988-6C>T	XP_016862307.1:n.2988-6C>T
XM_017006819.2:c.2937-6C>T	XP_016862308.1:n.2937-6C>T
XM_017006820.2:c.2934-6C>T	XP_016862309.1:n.2934-6C>T
XM_017006821.2:c.2934-6C>T	XP_016862310.1:n.2934-6C>T
XM_017006822.2:c.2835-6C>T	XP_016862311.1:n.2835-6C>T
XM_017006823.2:c.2814-6C>T	XP_016862312.1:n.2814-6C>T
XM_017006824.2:c.2811-6C>T	XP_016862313.1:n.2811-6C>T
XM_017006825.2:c.2760-6C>T	XP_016862314.1:n.2760-6C>T
XM_017006826.2:c.2757-6C>T	XP_016862315.1:n.2757-6C>T
XM_017006827.2:c.2757-6C>T	XP_016862316.1:n.2757-6C>T
XM_017006828.2:c.2658-6C>T	XP_016862317.1:n.2658-6C>T
XM_017006829.2:c.2655-6C>T	XP_016862318.1:n.2655-6C>T
XM_017006830.2:c.2541-6C>T	XP_016862319.1:n.2541-6C>T
XM_017006831.1:c.2541-6C>T	XP_016862320.1:n.2541-6C>T
XM_017006832.1:c.2541-6C>T	XP_016862321.1:n.2541-6C>T
XM_017006833.2:c.2604-6C>T	XP_016862322.1:n.2604-6C>T
XM_017006834.2:c.2601-6C>T	XP_016862323.1:n.2601-6C>T
XM_017006835.1:c.2364-6C>T	XP_016862324.1:n.2364-6C>T
XM_017006836.2:c.2310-6C>T	XP_016862325.1:n.2310-6C>T
XM_017006837.1:c.1587-6C>T	XP_016862326.1:n.1587-6C>T
XM_017006838.2:c.1584-6C>T	XP_016862327.1:n.1584-6C>T
XM_024453639.1:c.2034-6C>T	XP_024309407.1:n.2034-6C>T