Canonical Allele Identifier: CA354492129

Gene: IFT122

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129519671G>A , CM000665.2:g.129519671G>A	GRCh38
NC_000003.11:g.129238514G>A , CM000665.1:g.129238514G>A	GRCh37
NC_000003.10:g.130721204G>A	NCBI36
NG_023392.1:g.84547G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_052989.3:c.3575G>A MANE Select	NP_443715.1:p.Trp1192Ter
ENST00000348417.7:c.3575G>A MANE Select	ENSP00000324005.4:p.Trp1192Ter
NM_001280541.1:c.3554G>A	NP_001267470.1:p.Trp1185Ter
NM_001280541.2:c.3554G>A	NP_001267470.1:p.Trp1185Ter
NM_001280545.1:c.3125G>A	NP_001267474.1:p.Trp1042Ter
NM_001280545.2:c.3125G>A	NP_001267474.1:p.Trp1042Ter
NM_001280546.1:c.2948G>A	NP_001267475.1:p.Trp983Ter
NM_001280546.2:c.2948G>A	NP_001267475.1:p.Trp983Ter
NM_018262.3:c.3398G>A	NP_060732.2:p.Trp1133Ter
NM_018262.4:c.3398G>A	NP_060732.2:p.Trp1133Ter
NM_052985.3:c.3728G>A	NP_443711.2:p.Trp1243Ter
NM_052985.4:c.3728G>A	NP_443711.2:p.Trp1243Ter
NM_052989.2:c.3575G>A	NP_443715.1:p.Trp1192Ter
NM_052990.2:c.3245G>A	NP_443716.1:p.Trp1082Ter
NM_052990.3:c.3245G>A	NP_443716.1:p.Trp1082Ter
ENST00000296266.7:c.3728G>A	ENSP00000296266.3:p.Trp1243Ter
ENST00000347300.6:c.3398G>A	ENSP00000323973.3:p.Trp1133Ter
ENST00000348417.6:c.3575G>A	ENSP00000324005.3:p.Trp1192Ter
ENST00000349441.6:c.3245G>A	ENSP00000324165.3:p.Trp1082Ter
ENST00000431818.6:c.3125G>A	ENSP00000410946.2:p.Trp1042Ter
ENST00000431818.8:c.*2837G>A	ENSP00000410946.3:n.*2837G>A
ENST00000440957.6:c.2948G>A	ENSP00000401569.2:p.Trp983Ter
ENST00000440957.7:c.*2896G>A	ENSP00000401569.3:n.*2896G>A
ENST00000504021.5:c.3206G>A	ENSP00000422179.1:p.Trp1069Ter
ENST00000504021.6:c.3191G>A	ENSP00000422179.2:p.Trp1064Ter
ENST00000504444.2:n.2518G>A
ENST00000506507.5:n.4291G>A
ENST00000507221.2:c.1661G>A	ENSP00000427515.2:p.Trp554Ter
ENST00000507564.5:c.3554G>A	ENSP00000425536.1:p.Trp1185Ter
ENST00000511425.5:n.1984G>A
ENST00000512220.5:c.*3483G>A	ENSP00000421953.1:n.*3483G>A
ENST00000513190.1:n.2619G>A
ENST00000513932.2:n.1868G>A
ENST00000515783.6:c.3080G>A	ENSP00000423288.2:p.Trp1027Ter
ENST00000685087.1:c.*135G>A	ENSP00000509245.1:n.*135G>A
ENST00000685122.1:c.1664G>A	ENSP00000510278.1:p.Trp555Ter
ENST00000685189.1:c.*3306G>A	ENSP00000510418.1:n.*3306G>A
ENST00000685282.1:c.*793G>A	ENSP00000508642.1:n.*793G>A
ENST00000685447.1:c.*695G>A	ENSP00000509155.1:n.*695G>A
ENST00000685512.1:n.4378G>A
ENST00000685621.1:n.2756G>A
ENST00000685811.1:n.4316G>A
ENST00000685921.1:c.3287G>A	ENSP00000509914.1:p.Trp1096Ter
ENST00000685939.1:c.*1995G>A	ENSP00000509414.1:n.*1995G>A
ENST00000686375.1:c.*2016G>A	ENSP00000510777.1:n.*2016G>A
ENST00000686473.1:c.3233G>A	ENSP00000508526.1:p.Trp1078Ter
ENST00000686531.1:c.3179G>A	ENSP00000510570.1:p.Trp1060Ter
ENST00000686614.1:n.2291G>A
ENST00000686830.1:c.3236G>A	ENSP00000510002.1:p.Trp1079Ter
ENST00000687377.1:c.3524G>A	ENSP00000509225.1:p.Trp1175Ter
ENST00000687398.1:c.*3033G>A	ENSP00000510191.1:n.*3033G>A
ENST00000687461.1:n.3937G>A
ENST00000687645.1:c.*516G>A	ENSP00000510672.1:n.*516G>A
ENST00000687766.1:c.*1167G>A	ENSP00000509886.1:n.*1167G>A
ENST00000687791.1:c.*660G>A	ENSP00000509224.1:n.*660G>A
ENST00000687845.1:c.3085G>A	ENSP00000508687.1:n.3085G>A
ENST00000687864.1:n.4528G>A
ENST00000688020.1:c.3419G>A	ENSP00000508904.1:p.Trp1140Ter
ENST00000688129.1:c.*3177G>A	ENSP00000509382.1:n.*3177G>A
ENST00000688266.1:n.3088G>A
ENST00000688392.1:n.3989G>A
ENST00000688504.1:n.4474G>A
ENST00000688527.1:c.1718G>A	ENSP00000508740.1:p.Trp573Ter
ENST00000688657.1:c.1553G>A	ENSP00000508933.1:p.Trp518Ter
ENST00000688664.1:c.*2823G>A	ENSP00000510359.1:n.*2823G>A
ENST00000688765.1:n.1284G>A
ENST00000689005.1:c.3098G>A	ENSP00000510168.1:p.Trp1033Ter
ENST00000689313.1:c.3551G>A	ENSP00000509012.1:p.Trp1184Ter
ENST00000689332.1:c.3401G>A	ENSP00000510425.1:p.Trp1134Ter
ENST00000689384.1:n.4142G>A
ENST00000689492.1:c.3251G>A	ENSP00000510239.1:p.Trp1084Ter
ENST00000689643.1:c.3575G>A	ENSP00000509801.1:p.Trp1192Ter
ENST00000689796.1:c.3239G>A	ENSP00000509716.1:p.Trp1080Ter
ENST00000689801.1:c.3347G>A	ENSP00000509982.1:p.Trp1116Ter
ENST00000689871.1:c.*491G>A	ENSP00000510412.1:n.*491G>A
ENST00000689884.1:n.2562G>A
ENST00000690209.1:c.*135G>A	ENSP00000509005.1:n.*135G>A
ENST00000690617.1:n.3512G>A
ENST00000690657.1:c.1715G>A	ENSP00000510699.1:p.Trp572Ter
ENST00000690663.1:c.3188G>A	ENSP00000509297.1:p.Trp1063Ter
ENST00000690677.1:c.*2857G>A	ENSP00000510036.1:n.*2857G>A
ENST00000690723.1:c.*660G>A	ENSP00000508811.1:n.*660G>A
ENST00000690800.1:n.498G>A
ENST00000690862.1:c.3344G>A	ENSP00000509210.1:p.Trp1115Ter
ENST00000691148.1:n.4042G>A
ENST00000691360.1:c.*3001G>A	ENSP00000510040.1:n.*3001G>A
ENST00000691583.1:c.3344G>A	ENSP00000510741.1:p.Trp1115Ter
ENST00000691641.1:c.*3123G>A	ENSP00000509350.1:n.*3123G>A
ENST00000691705.1:c.*135G>A	ENSP00000510077.1:n.*135G>A
ENST00000691733.1:c.3398G>A	ENSP00000509735.1:p.Trp1133Ter
ENST00000691770.1:c.*927G>A	ENSP00000510126.1:n.*927G>A
ENST00000691964.1:c.3341G>A	ENSP00000509094.1:p.Trp1114Ter
ENST00000692228.1:c.*2472G>A	ENSP00000508464.1:n.*2472G>A
ENST00000692242.1:c.3578G>A	ENSP00000509878.1:p.Trp1193Ter
ENST00000692321.1:c.2894G>A	ENSP00000508614.1:p.Trp965Ter
ENST00000692391.1:c.*586G>A	ENSP00000509211.1:n.*586G>A
ENST00000692508.1:n.4222G>A
ENST00000692728.1:c.2894G>A	ENSP00000510105.1:p.Trp965Ter
ENST00000692901.1:c.3167G>A	ENSP00000510339.1:p.Trp1056Ter
ENST00000692929.1:n.2429G>A
ENST00000692985.1:c.*3115G>A	ENSP00000510460.1:n.*3115G>A
ENST00000693114.1:c.*2412G>A	ENSP00000508738.1:n.*2412G>A
ENST00000693129.1:c.3521G>A	ENSP00000509806.1:p.Trp1174Ter
ENST00000693162.1:c.*586G>A	ENSP00000509103.1:n.*586G>A
ENST00000693233.1:c.2948G>A	ENSP00000509186.1:p.Trp983Ter
ENST00000693489.1:c.3512G>A	ENSP00000509656.1:p.Trp1171Ter
ENST00000693588.1:c.3242G>A	ENSP00000509216.1:p.Trp1081Ter
ENST00000693654.1:n.3812G>A
XM_005247609.1:c.3401G>A	XP_005247666.1:p.Trp1134Ter
XM_005247609.2:c.3401G>A	XP_005247666.1:p.Trp1134Ter
XM_006713689.1:c.3578G>A	XP_006713752.1:p.Trp1193Ter
XM_006713689.2:c.3578G>A	XP_006713752.1:p.Trp1193Ter
XM_006713691.2:c.3524G>A	XP_006713754.1:p.Trp1175Ter
XM_006713691.3:c.3524G>A	XP_006713754.1:p.Trp1175Ter
XM_006713692.2:c.3347G>A	XP_006713755.1:p.Trp1116Ter
XM_006713692.3:c.3347G>A	XP_006713755.1:p.Trp1116Ter
XM_011512967.1:c.3422G>A	XP_011511269.1:p.Trp1141Ter
XM_011512968.1:c.3128G>A	XP_011511270.1:p.Trp1043Ter
XM_011512969.1:c.3128G>A	XP_011511271.1:p.Trp1043Ter
XM_011512970.1:c.3128G>A	XP_011511272.1:p.Trp1043Ter
XM_011512971.1:c.2951G>A	XP_011511273.1:p.Trp984Ter
XM_011512973.1:c.2174G>A	XP_011511275.1:p.Trp725Ter
XM_017006817.2:c.3578G>A	XP_016862306.1:p.Trp1193Ter
XM_017006818.2:c.3575G>A	XP_016862307.1:p.Trp1192Ter
XM_017006819.2:c.3524G>A	XP_016862308.1:p.Trp1175Ter
XM_017006820.2:c.3521G>A	XP_016862309.1:p.Trp1174Ter
XM_017006821.2:c.3521G>A	XP_016862310.1:p.Trp1174Ter
XM_017006822.2:c.3422G>A	XP_016862311.1:p.Trp1141Ter
XM_017006823.2:c.3401G>A	XP_016862312.1:p.Trp1134Ter
XM_017006824.2:c.3398G>A	XP_016862313.1:p.Trp1133Ter
XM_017006825.2:c.3347G>A	XP_016862314.1:p.Trp1116Ter
XM_017006826.2:c.3344G>A	XP_016862315.1:p.Trp1115Ter
XM_017006827.2:c.3344G>A	XP_016862316.1:p.Trp1115Ter
XM_017006828.2:c.3245G>A	XP_016862317.1:p.Trp1082Ter
XM_017006829.2:c.3242G>A	XP_016862318.1:p.Trp1081Ter
XM_017006830.2:c.3128G>A	XP_016862319.1:p.Trp1043Ter
XM_017006831.1:c.3128G>A	XP_016862320.1:p.Trp1043Ter
XM_017006832.1:c.3128G>A	XP_016862321.1:p.Trp1043Ter
XM_017006833.2:c.3191G>A	XP_016862322.1:p.Trp1064Ter
XM_017006834.2:c.3188G>A	XP_016862323.1:p.Trp1063Ter
XM_017006835.1:c.2951G>A	XP_016862324.1:p.Trp984Ter
XM_017006836.2:c.2897G>A	XP_016862325.1:p.Trp966Ter
XM_017006837.1:c.2174G>A	XP_016862326.1:p.Trp725Ter
XM_017006838.2:c.2171G>A	XP_016862327.1:p.Trp724Ter
XM_024453639.1:c.2621G>A	XP_024309407.1:p.Trp874Ter