Canonical Allele Identifier: CA435635562
Community Standard Title: NM_052989.3(IFT122):c.3030T>A (p.Gly1010=)
Gene: IFT122 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129514431T>A , CM000665.2:g.129514431T>A GRCh38
NC_000003.11:g.129233274T>A , CM000665.1:g.129233274T>A GRCh37
NC_000003.10:g.130715964T>A NCBI36
NG_023392.1:g.79307T>A

Transcript Alleles

HGVS Amino-acid Change
NM_052989.3:c.3030T>A MANE Select NP_443715.1:p.Gly1010=
ENST00000348417.7:c.3030T>A MANE Select ENSP00000324005.4:p.Gly1010=
NM_001280541.1:c.3009T>A NP_001267470.1:p.Gly1003=
NM_001280541.2:c.3009T>A NP_001267470.1:p.Gly1003=
NM_001280545.1:c.2580T>A NP_001267474.1:p.Gly860=
NM_001280545.2:c.2580T>A NP_001267474.1:p.Gly860=
NM_001280546.1:c.2403T>A NP_001267475.1:p.Gly801=
NM_001280546.2:c.2403T>A NP_001267475.1:p.Gly801=
NM_018262.3:c.2853T>A NP_060732.2:p.Gly951=
NM_018262.4:c.2853T>A NP_060732.2:p.Gly951=
NM_052985.3:c.3183T>A NP_443711.2:p.Gly1061=
NM_052985.4:c.3183T>A NP_443711.2:p.Gly1061=
NM_052989.2:c.3030T>A NP_443715.1:p.Gly1010=
NM_052990.2:c.2700T>A NP_443716.1:p.Gly900=
NM_052990.3:c.2700T>A NP_443716.1:p.Gly900=
ENST00000296266.7:c.3183T>A ENSP00000296266.3:p.Gly1061=
ENST00000347300.6:c.2853T>A ENSP00000323973.3:p.Gly951=
ENST00000348417.6:c.3030T>A ENSP00000324005.3:p.Gly1010=
ENST00000349441.6:c.2700T>A ENSP00000324165.3:p.Gly900=
ENST00000431818.6:c.2580T>A ENSP00000410946.2:p.Gly860=
ENST00000431818.8:c.*2292T>A ENSP00000410946.3:n.*2292T>A
ENST00000440957.6:c.2403T>A ENSP00000401569.2:p.Gly801=
ENST00000440957.7:c.*2351T>A ENSP00000401569.3:n.*2351T>A
ENST00000504021.5:c.2661T>A ENSP00000422179.1:p.Gly887=
ENST00000504021.6:c.2646T>A ENSP00000422179.2:p.Gly882=
ENST00000504444.1:n.75T>A
ENST00000504444.2:n.1040T>A
ENST00000506507.5:n.2813T>A
ENST00000507221.2:c.1116T>A ENSP00000427515.2:p.Gly372=
ENST00000507564.5:c.3009T>A ENSP00000425536.1:p.Gly1003=
ENST00000511425.5:n.1439T>A
ENST00000512220.5:c.*2938T>A ENSP00000421953.1:n.*2938T>A
ENST00000513190.1:n.2074T>A
ENST00000513932.2:n.1323T>A
ENST00000515783.6:c.2535T>A ENSP00000423288.2:p.Gly845=
ENST00000685087.1:c.2546+2019T>A ENSP00000509245.1:n.2546+2019T>A
ENST00000685122.1:c.1119T>A ENSP00000510278.1:p.Gly373=
ENST00000685189.1:c.*2761T>A ENSP00000510418.1:n.*2761T>A
ENST00000685282.1:c.*248T>A ENSP00000508642.1:n.*248T>A
ENST00000685447.1:c.*150T>A ENSP00000509155.1:n.*150T>A
ENST00000685512.1:n.3745T>A
ENST00000685621.1:n.2572+2019T>A
ENST00000685811.1:n.3771T>A
ENST00000685921.1:c.2742T>A ENSP00000509914.1:p.Gly914=
ENST00000685939.1:c.*1450T>A ENSP00000509414.1:n.*1450T>A
ENST00000686375.1:c.*1453T>A ENSP00000510777.1:n.*1453T>A
ENST00000686473.1:c.2688T>A ENSP00000508526.1:p.Gly896=
ENST00000686531.1:c.2634T>A ENSP00000510570.1:p.Gly878=
ENST00000686614.1:n.1577T>A
ENST00000686830.1:c.2691T>A ENSP00000510002.1:p.Gly897=
ENST00000687377.1:c.2979T>A ENSP00000509225.1:p.Gly993=
ENST00000687398.1:c.*2488T>A ENSP00000510191.1:n.*2488T>A
ENST00000687461.1:n.3392T>A
ENST00000687645.1:c.3028T>A ENSP00000510672.1:p.Cys1010Ser
ENST00000687766.1:c.*622T>A ENSP00000509886.1:n.*622T>A
ENST00000687791.1:c.*115T>A ENSP00000509224.1:n.*115T>A
ENST00000687845.1:c.2540T>A ENSP00000508687.1:n.2540T>A
ENST00000687864.1:n.3050T>A
ENST00000688020.1:c.2874T>A ENSP00000508904.1:p.Gly958=
ENST00000688129.1:c.*2632T>A ENSP00000509382.1:n.*2632T>A
ENST00000688266.1:n.2543T>A
ENST00000688392.1:n.3444T>A
ENST00000688504.1:n.2996T>A
ENST00000688527.1:c.1173T>A ENSP00000508740.1:p.Gly391=
ENST00000688657.1:c.1008T>A ENSP00000508933.1:p.Gly336=
ENST00000688664.1:c.*2278T>A ENSP00000510359.1:n.*2278T>A
ENST00000689005.1:c.2553T>A ENSP00000510168.1:p.Gly851=
ENST00000689313.1:c.3006T>A ENSP00000509012.1:p.Gly1002=
ENST00000689332.1:c.2856T>A ENSP00000510425.1:p.Gly952=
ENST00000689384.1:n.3597T>A
ENST00000689492.1:c.2706T>A ENSP00000510239.1:p.Gly902=
ENST00000689643.1:c.3030T>A ENSP00000509801.1:p.Gly1010=
ENST00000689796.1:c.2694T>A ENSP00000509716.1:p.Gly898=
ENST00000689801.1:c.2802T>A ENSP00000509982.1:p.Gly934=
ENST00000689871.1:c.2802T>A ENSP00000510412.1:p.Gly934=
ENST00000689884.1:n.2017T>A
ENST00000690209.1:c.2813+2019T>A ENSP00000509005.1:n.2813+2019T>A
ENST00000690617.1:n.2967T>A
ENST00000690657.1:c.1170T>A ENSP00000510699.1:p.Gly390=
ENST00000690663.1:c.2643T>A ENSP00000509297.1:p.Gly881=
ENST00000690677.1:c.*2312T>A ENSP00000510036.1:n.*2312T>A
ENST00000690723.1:c.*115T>A ENSP00000508811.1:n.*115T>A
ENST00000690862.1:c.2799T>A ENSP00000509210.1:p.Gly933=
ENST00000691148.1:n.3497T>A
ENST00000691360.1:c.*2456T>A ENSP00000510040.1:n.*2456T>A
ENST00000691583.1:c.2799T>A ENSP00000510741.1:p.Gly933=
ENST00000691641.1:c.*2578T>A ENSP00000509350.1:n.*2578T>A
ENST00000691705.1:c.2810+2019T>A ENSP00000510077.1:n.2810+2019T>A
ENST00000691733.1:c.2853T>A ENSP00000509735.1:p.Gly951=
ENST00000691770.1:c.*382T>A ENSP00000510126.1:n.*382T>A
ENST00000691964.1:c.2799T>A ENSP00000509094.1:p.Gly933=
ENST00000692228.1:c.*1927T>A ENSP00000508464.1:n.*1927T>A
ENST00000692242.1:c.3033T>A ENSP00000509878.1:p.Gly1011=
ENST00000692321.1:c.2349T>A ENSP00000508614.1:p.Gly783=
ENST00000692391.1:c.*41T>A ENSP00000509211.1:n.*41T>A
ENST00000692508.1:n.3677T>A
ENST00000692728.1:c.2349T>A ENSP00000510105.1:p.Gly783=
ENST00000692901.1:c.2622T>A ENSP00000510339.1:p.Gly874=
ENST00000692929.1:n.1884T>A
ENST00000692985.1:c.*2570T>A ENSP00000510460.1:n.*2570T>A
ENST00000693114.1:c.*1867T>A ENSP00000508738.1:n.*1867T>A
ENST00000693129.1:c.2976T>A ENSP00000509806.1:p.Gly992=
ENST00000693162.1:c.*41T>A ENSP00000509103.1:n.*41T>A
ENST00000693233.1:c.2403T>A ENSP00000509186.1:p.Gly801=
ENST00000693489.1:c.2967T>A ENSP00000509656.1:p.Gly989=
ENST00000693588.1:c.2697T>A ENSP00000509216.1:p.Gly899=
ENST00000693654.1:n.3267T>A
XM_005247609.1:c.2856T>A XP_005247666.1:p.Gly952=
XM_005247609.2:c.2856T>A XP_005247666.1:p.Gly952=
XM_006713689.1:c.3033T>A XP_006713752.1:p.Gly1011=
XM_006713689.2:c.3033T>A XP_006713752.1:p.Gly1011=
XM_006713691.2:c.2979T>A XP_006713754.1:p.Gly993=
XM_006713691.3:c.2979T>A XP_006713754.1:p.Gly993=
XM_006713692.2:c.2802T>A XP_006713755.1:p.Gly934=
XM_006713692.3:c.2802T>A XP_006713755.1:p.Gly934=
XM_011512967.1:c.2877T>A XP_011511269.1:p.Gly959=
XM_011512968.1:c.2583T>A XP_011511270.1:p.Gly861=
XM_011512969.1:c.2583T>A XP_011511271.1:p.Gly861=
XM_011512970.1:c.2583T>A XP_011511272.1:p.Gly861=
XM_011512971.1:c.2406T>A XP_011511273.1:p.Gly802=
XM_011512973.1:c.1629T>A XP_011511275.1:p.Gly543=
XM_017006817.2:c.3033T>A XP_016862306.1:p.Gly1011=
XM_017006818.2:c.3030T>A XP_016862307.1:p.Gly1010=
XM_017006819.2:c.2979T>A XP_016862308.1:p.Gly993=
XM_017006820.2:c.2976T>A XP_016862309.1:p.Gly992=
XM_017006821.2:c.2976T>A XP_016862310.1:p.Gly992=
XM_017006822.2:c.2877T>A XP_016862311.1:p.Gly959=
XM_017006823.2:c.2856T>A XP_016862312.1:p.Gly952=
XM_017006824.2:c.2853T>A XP_016862313.1:p.Gly951=
XM_017006825.2:c.2802T>A XP_016862314.1:p.Gly934=
XM_017006826.2:c.2799T>A XP_016862315.1:p.Gly933=
XM_017006827.2:c.2799T>A XP_016862316.1:p.Gly933=
XM_017006828.2:c.2700T>A XP_016862317.1:p.Gly900=
XM_017006829.2:c.2697T>A XP_016862318.1:p.Gly899=
XM_017006830.2:c.2583T>A XP_016862319.1:p.Gly861=
XM_017006831.1:c.2583T>A XP_016862320.1:p.Gly861=
XM_017006832.1:c.2583T>A XP_016862321.1:p.Gly861=
XM_017006833.2:c.2646T>A XP_016862322.1:p.Gly882=
XM_017006834.2:c.2643T>A XP_016862323.1:p.Gly881=
XM_017006835.1:c.2406T>A XP_016862324.1:p.Gly802=
XM_017006836.2:c.2352T>A XP_016862325.1:p.Gly784=
XM_017006837.1:c.1629T>A XP_016862326.1:p.Gly543=
XM_017006838.2:c.1626T>A XP_016862327.1:p.Gly542=
XM_024453639.1:c.2076T>A XP_024309407.1:p.Gly692=