Canonical Allele Identifier: CA1670313
Community Standard Title: NM_018062.4(FANCL):c.1092G>A (p.Lys364=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.58160108C>T , CM000664.2:g.58160108C>T GRCh38
NC_000002.11:g.58387243C>T , CM000664.1:g.58387243C>T GRCh37
NC_000002.10:g.58240747C>T NCBI36
NG_007418.1:g.86272G>A , LRG_501:g.86272G>A
NG_029717.2:g.257368C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018062.4:c.1092G>A (FANCL) MANE Select NP_060532.2:p.Lys364=
ENST00000233741.9:c.1092G>A (FANCL) MANE Select ENSP00000233741.5:p.Lys364=
NM_001114636.1:c.1107G>A , LRG_501t1:c.1107G>A (FANCL) NP_001108108.1:p.Lys369=
NM_001374615.1:c.1137G>A (FANCL) NP_001361544.1:p.Lys379=
NM_018062.3:c.1092G>A , LRG_501t2:c.1092G>A (FANCL) NP_060532.2:p.Lys364=
NR_156742.1:n.881G>A (FANCL)
NR_164659.1:n.973G>A (FANCL)
ENST00000233741.8:c.1092G>A (FANCL) ENSP00000233741.4:p.Lys364=
ENST00000402135.7:c.1107G>A (FANCL) ENSP00000385021.3:p.Lys369=
ENST00000402135.8:c.1107G>A (FANCL) ENSP00000385021.3:p.Lys369=
ENST00000403295.7:c.1008G>A (FANCL) ENSP00000386097.3:p.Lys336=
ENST00000403295.8:c.1008G>A (FANCL) ENSP00000386097.3:p.Lys336=
ENST00000403676.5:c.741G>A (FANCL) ENSP00000384046.1:p.Lys247=
ENST00000403676.6:c.*655G>A (FANCL) ENSP00000384046.2:n.*655G>A
ENST00000417361.2:c.*670G>A (FANCL) ENSP00000389448.2:n.*670G>A
ENST00000427708.7:c.1137G>A (FANCL) ENSP00000400969.3:p.Lys379=
ENST00000446381.6:c.648G>A (FANCL) ENSP00000390991.2:p.Lys216=
ENST00000449070.6:c.915G>A (FANCL) ENSP00000401280.2:p.Lys305=
ENST00000470506.2:n.1606G>A (FANCL)
ENST00000696305.1:c.1035G>A (FANCL) ENSP00000512543.1:p.Lys345=
ENST00000696306.1:c.*982G>A (FANCL) ENSP00000512544.1:n.*982G>A
ENST00000696307.1:c.1077G>A (FANCL) ENSP00000512545.1:p.Lys359=
ENST00000696314.1:c.*145G>A (FANCL) ENSP00000512552.1:n.*145G>A
ENST00000696315.1:c.*655G>A (FANCL) ENSP00000512553.1:n.*655G>A
ENST00000696316.1:c.975G>A (FANCL) ENSP00000512554.1:p.Lys325=
ENST00000696317.1:c.*65G>A (FANCL) ENSP00000512555.1:n.*65G>A
ENST00000696318.1:c.*145G>A (FANCL) ENSP00000512556.1:n.*145G>A
ENST00000696319.1:c.1050G>A (FANCL) ENSP00000512557.1:p.Lys350=
ENST00000696320.1:n.2771G>A (FANCL)
ENST00000696324.1:c.*542G>A (FANCL) ENSP00000512561.1:n.*542G>A
ENST00000696325.1:n.4175G>A (FANCL)
ENST00000696326.1:c.1152G>A (FANCL) ENSP00000512562.1:p.Lys384=
ENST00000696338.1:n.1206G>A (FANCL)
ENST00000696339.1:n.2664G>A (FANCL)
ENST00000696340.1:n.3318G>A (FANCL)
ENST00000696341.1:n.1600G>A (FANCL)
ENST00000696342.1:c.*2322G>A (FANCL) ENSP00000512569.1:n.*2322G>A
ENST00000696343.1:n.2951G>A (FANCL)
ENST00000696344.1:c.*806G>A (FANCL) ENSP00000512570.1:n.*806G>A
ENST00000696358.1:n.3765G>A (FANCL)
ENST00000696359.1:n.3442G>A (FANCL)
ENST00000696360.1:n.1877G>A (FANCL)
ENST00000696361.1:c.*1095G>A (FANCL) ENSP00000512579.1:n.*1095G>A
ENST00000696362.1:c.*542G>A (FANCL) ENSP00000512580.1:n.*542G>A
ENST00000696363.1:n.2869G>A (FANCL)
ENST00000696364.1:n.1485G>A (FANCL)
ENST00000696371.1:c.1083G>A (FANCL) ENSP00000512586.1:p.Lys361=
ENST00000696372.1:n.2181G>A (FANCL)
ENST00000696373.1:c.*2322G>A (FANCL) ENSP00000512587.1:n.*2322G>A
ENST00000696374.1:c.*460G>A (FANCL) ENSP00000512588.1:n.*460G>A
ENST00000696375.1:n.8025G>A (FANCL)
ENST00000696376.1:n.6878G>A (FANCL)
ENST00000696378.1:c.*1110G>A (FANCL) ENSP00000512589.1:n.*1110G>A
ENST00000696394.1:n.4594G>A (FANCL)
ENST00000696395.1:n.4533G>A (FANCL)
ENST00000696396.1:n.2246G>A (FANCL)
ENST00000696397.1:n.3217G>A (FANCL)
ENST00000696398.1:c.*239G>A (FANCL) ENSP00000512604.1:n.*239G>A
ENST00000696399.1:n.2366G>A (FANCL)
ENST00000696400.1:c.*856G>A (FANCL) ENSP00000512605.1:n.*856G>A
ENST00000696409.1:c.*609G>A (FANCL) ENSP00000512610.1:n.*609G>A
ENST00000696410.1:c.*573G>A (FANCL) ENSP00000512611.1:n.*573G>A
ENST00000696411.1:n.797G>A (FANCL)
ENST00000696412.1:n.1591G>A (FANCL)
ENST00000696413.1:n.1094G>A (FANCL)
ENST00000696414.1:n.2138G>A (FANCL)
ENST00000696415.1:c.*65G>A (FANCL) ENSP00000512612.1:n.*65G>A
ENST00000696416.1:n.1100G>A (FANCL)
ENST00000696432.1:n.3551G>A (FANCL)
ENST00000696433.1:c.*145G>A (FANCL) ENSP00000512627.1:n.*145G>A
ENST00000696434.1:c.930G>A (FANCL) ENSP00000512628.1:p.Lys310=
ENST00000696435.1:c.*239G>A (FANCL) ENSP00000512629.1:n.*239G>A
ENST00000696436.1:n.1046G>A (FANCL)
ENST00000696437.1:n.1509G>A (FANCL)
ENST00000696438.1:c.*925G>A (FANCL) ENSP00000512630.1:n.*925G>A
ENST00000696439.1:n.3141G>A (FANCL)
ENST00000696440.1:n.2128G>A (FANCL)
ENST00000696454.1:c.*443G>A (FANCL) ENSP00000512641.1:n.*443G>A
ENST00000696455.1:c.*145G>A (FANCL) ENSP00000512642.1:n.*145G>A
ENST00000696456.1:n.602G>A (FANCL)
ENST00000696457.1:c.*1863G>A (FANCL) ENSP00000512643.1:n.*1863G>A
ENST00000696458.1:c.*65G>A (FANCL) ENSP00000512644.1:n.*65G>A
ENST00000696459.1:c.*527G>A (FANCL) ENSP00000512645.1:n.*527G>A
ENST00000696460.1:n.1589G>A (FANCL)
ENST00000696467.1:c.*588G>A (FANCL) ENSP00000512648.1:n.*588G>A
ENST00000696468.1:c.*584G>A (FANCL) ENSP00000512649.1:n.*584G>A
ENST00000696469.1:c.*239G>A (FANCL) ENSP00000512650.1:n.*239G>A
ENST00000696470.1:n.3260G>A (FANCL)
ENST00000696471.1:n.762G>A (FANCL)
ENST00000696472.1:c.*145G>A (FANCL) ENSP00000512651.1:n.*145G>A
ENST00000696473.1:c.*775G>A (FANCL) ENSP00000512652.1:n.*775G>A
ENST00000696474.1:n.968G>A (FANCL)
ENST00000696475.1:n.2600G>A (FANCL)
ENST00000696492.1:c.*757G>A (FANCL) ENSP00000512662.1:n.*757G>A
ENST00000696493.1:c.*940G>A (FANCL) ENSP00000512663.1:n.*940G>A
ENST00000696494.1:n.1124G>A (FANCL)
ENST00000696495.1:c.*838G>A (FANCL) ENSP00000512664.1:n.*838G>A
ENST00000696496.1:n.1631G>A (FANCL)
ENST00000696497.1:n.4389G>A (FANCL)
ENST00000696498.1:n.1851G>A (FANCL)
ENST00000696499.1:c.*529G>A (FANCL) ENSP00000512665.1:n.*529G>A
ENST00000696508.1:c.*647G>A (FANCL) ENSP00000512674.1:n.*647G>A
ENST00000696509.1:c.*969G>A (FANCL) ENSP00000512675.1:n.*969G>A
ENST00000696510.1:c.564G>A (FANCL) ENSP00000512676.1:p.Lys188=
ENST00000696527.1:c.*145G>A (FANCL) ENSP00000512690.1:n.*145G>A
ENST00000696528.1:c.*145G>A (FANCL) ENSP00000512691.1:n.*145G>A
ENST00000696529.1:n.955G>A (FANCL)
ENST00000696530.1:c.888G>A (FANCL) ENSP00000512692.1:p.Lys296=
ENST00000696531.1:c.*624G>A (FANCL) ENSP00000512693.1:n.*624G>A
ENST00000696532.1:n.2239G>A (FANCL)
ENST00000696542.1:n.1030G>A (FANCL)
ENST00000696543.1:c.*145G>A (FANCL) ENSP00000512703.1:n.*145G>A
ENST00000696544.1:c.*145G>A (FANCL) ENSP00000512704.1:n.*145G>A
ENST00000696545.1:c.*760G>A (FANCL) ENSP00000512705.1:n.*760G>A
ENST00000696546.1:c.*871G>A (FANCL) ENSP00000512706.1:n.*871G>A
ENST00000696547.1:c.1080G>A (FANCL) ENSP00000512707.1:p.Lys360=
ENST00000696548.1:c.*1296G>A (FANCL) ENSP00000512708.1:n.*1296G>A
ENST00000696564.1:c.*145G>A (FANCL) ENSP00000512722.1:n.*145G>A
ENST00000696565.1:c.*145G>A (FANCL) ENSP00000512723.1:n.*145G>A
ENST00000696566.1:n.3680G>A (FANCL)
ENST00000696567.1:c.987G>A (FANCL) ENSP00000512724.1:p.Lys329=
ENST00000696568.1:n.518G>A (FANCL)
ENST00000696569.1:n.1201G>A (FANCL)
ENST00000696570.1:c.*414G>A (FANCL) ENSP00000512725.1:n.*414G>A
ENST00000696619.1:n.2648G>A (FANCL)
ENST00000696620.1:c.684G>A (FANCL) ENSP00000512759.1:p.Lys228=
ENST00000696621.1:c.*239G>A (FANCL) ENSP00000512760.1:n.*239G>A
ENST00000696622.1:n.2823G>A (FANCL)
ENST00000696623.1:n.1058G>A (FANCL)
ENST00000696624.1:c.1023G>A (FANCL) ENSP00000512761.1:p.Lys341=
ENST00000696625.1:c.*542G>A (FANCL) ENSP00000512762.1:n.*542G>A
ENST00000696634.1:c.805G>A (FANCL) ENSP00000512770.1:n.805G>A
ENST00000696635.1:c.1068G>A (FANCL) ENSP00000512771.1:p.Lys356=
ENST00000696636.1:n.3544G>A (FANCL)
ENST00000696637.1:n.8165G>A (FANCL)
ENST00000696638.1:n.1107G>A (FANCL)
ENST00000696639.1:n.3170G>A (FANCL)
XM_005264395.2:c.1092G>A (FANCL) XP_005264452.1:p.Lys364=
XM_005264395.4:c.1092G>A (FANCL) XP_005264452.1:p.Lys364=
XM_005264397.3:c.741G>A (FANCL) XP_005264454.1:p.Lys247=
XM_005264540.4:c.*415C>T (VRK2) XP_005264597.1:n.*415C>T
XM_006712090.4:c.*792C>T (VRK2) XP_006712153.1:n.*792C>T
XM_006712092.4:c.*415C>T (VRK2) XP_006712155.1:n.*415C>T
XM_006712093.4:c.*415C>T (VRK2) XP_006712156.1:n.*415C>T
XM_011532939.1:c.1152G>A (FANCL) XP_011531241.1:p.Lys384=
XM_011532939.3:c.1152G>A (FANCL) XP_011531241.1:p.Lys384=
XM_011532940.1:c.1137G>A (FANCL) XP_011531242.1:p.Lys379=
XM_011532940.3:c.1137G>A (FANCL) XP_011531242.1:p.Lys379=
XM_011532941.1:c.1152G>A (FANCL) XP_011531243.1:p.Lys384=
XM_011532941.2:c.1152G>A (FANCL) XP_011531243.1:p.Lys384=
XM_011532942.1:c.1107G>A (FANCL) XP_011531244.1:p.Lys369=
XM_011532942.3:c.1107G>A (FANCL) XP_011531244.1:p.Lys369=
XM_011532943.1:c.1353G>A (FANCL) XP_011531245.1:p.Lys451=
XM_011532944.1:c.801G>A (FANCL) XP_011531246.1:p.Lys267=
XM_011532944.2:c.801G>A (FANCL) XP_011531246.1:p.Lys267=
XM_011532945.1:c.756G>A (FANCL) XP_011531247.1:p.Lys252=
XM_011532945.2:c.756G>A (FANCL) XP_011531247.1:p.Lys252=
XM_011533092.3:c.*415C>T (VRK2) XP_011531394.1:n.*415C>T
XM_017004414.2:c.1137G>A (FANCL) XP_016859903.1:p.Lys379=
XM_017004416.1:c.741G>A (FANCL) XP_016859905.1:p.Lys247=
XM_017004858.2:c.*792C>T (VRK2) XP_016860347.1:n.*792C>T
XM_017004859.2:c.*415C>T (VRK2) XP_016860348.1:n.*415C>T
XM_017004860.2:c.*415C>T (VRK2) XP_016860349.1:n.*415C>T
XM_017004861.2:c.*415C>T (VRK2) XP_016860350.1:n.*415C>T
XM_017004862.2:c.*415C>T (VRK2) XP_016860351.1:n.*415C>T
XM_017004863.2:c.*415C>T (VRK2) XP_016860352.1:n.*415C>T
XM_017004864.2:c.*792C>T (VRK2) XP_016860353.1:n.*792C>T
XM_017004865.1:c.*800C>T (VRK2) XP_016860354.1:n.*800C>T
XM_017004866.1:c.*800C>T (VRK2) XP_016860355.1:n.*800C>T
XR_001738802.2:n.1038G>A (FANCL)
XR_001738803.2:n.1023G>A (FANCL)
XR_002959309.1:n.1734G>A (FANCL)
XR_939692.1:n.1091G>A (FANCL)
XR_939692.2:n.1083G>A (FANCL)