Canonical Allele Identifier: CA346930870

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.58160109T>A , CM000664.2:g.58160109T>A GRCh38
NC_000002.11:g.58387244T>A , CM000664.1:g.58387244T>A GRCh37
NC_000002.10:g.58240748T>A NCBI36
NG_007418.1:g.86271A>T , LRG_501:g.86271A>T
NG_029717.2:g.257369T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000402135.8:c.1106A>T (FANCL) ENSP00000385021.3:p.Lys369Met
ENST00000403295.8:c.1007A>T (FANCL) ENSP00000386097.3:p.Lys336Met
ENST00000403676.6:c.*654A>T (FANCL) ENSP00000384046.2:n.*654A>T
ENST00000417361.2:c.*669A>T (FANCL) ENSP00000389448.2:n.*669A>T
ENST00000427708.7:c.1136A>T (FANCL) ENSP00000400969.3:p.Lys379Met
ENST00000446381.6:c.647A>T (FANCL) ENSP00000390991.2:p.Lys216Met
ENST00000449070.6:c.914A>T (FANCL) ENSP00000401280.2:p.Lys305Met
ENST00000470506.2:n.1605A>T (FANCL)
ENST00000696305.1:c.1034A>T (FANCL) ENSP00000512543.1:p.Lys345Met
ENST00000696306.1:c.*981A>T (FANCL) ENSP00000512544.1:n.*981A>T
ENST00000696307.1:c.1076A>T (FANCL) ENSP00000512545.1:p.Lys359Met
ENST00000696314.1:c.*144A>T (FANCL) ENSP00000512552.1:n.*144A>T
ENST00000696315.1:c.*654A>T (FANCL) ENSP00000512553.1:n.*654A>T
ENST00000696316.1:c.974A>T (FANCL) ENSP00000512554.1:p.Lys325Met
ENST00000696317.1:c.*64A>T (FANCL) ENSP00000512555.1:n.*64A>T
ENST00000696318.1:c.*144A>T (FANCL) ENSP00000512556.1:n.*144A>T
ENST00000696319.1:c.1049A>T (FANCL) ENSP00000512557.1:p.Lys350Met
ENST00000696320.1:n.2770A>T (FANCL)
ENST00000696324.1:c.*541A>T (FANCL) ENSP00000512561.1:n.*541A>T
ENST00000696325.1:n.4174A>T (FANCL)
ENST00000696326.1:c.1151A>T (FANCL) ENSP00000512562.1:p.Lys384Met
ENST00000696338.1:n.1205A>T (FANCL)
ENST00000696339.1:n.2663A>T (FANCL)
ENST00000696340.1:n.3317A>T (FANCL)
ENST00000696341.1:n.1599A>T (FANCL)
ENST00000696342.1:c.*2321A>T (FANCL) ENSP00000512569.1:n.*2321A>T
ENST00000696343.1:n.2950A>T (FANCL)
ENST00000696344.1:c.*805A>T (FANCL) ENSP00000512570.1:n.*805A>T
ENST00000696358.1:n.3764A>T (FANCL)
ENST00000696359.1:n.3441A>T (FANCL)
ENST00000696360.1:n.1876A>T (FANCL)
ENST00000696361.1:c.*1094A>T (FANCL) ENSP00000512579.1:n.*1094A>T
ENST00000696362.1:c.*541A>T (FANCL) ENSP00000512580.1:n.*541A>T
ENST00000696363.1:n.2868A>T (FANCL)
ENST00000696364.1:n.1484A>T (FANCL)
ENST00000696371.1:c.1082A>T (FANCL) ENSP00000512586.1:p.Lys361Met
ENST00000696372.1:n.2180A>T (FANCL)
ENST00000696373.1:c.*2321A>T (FANCL) ENSP00000512587.1:n.*2321A>T
ENST00000696374.1:c.*459A>T (FANCL) ENSP00000512588.1:n.*459A>T
ENST00000696375.1:n.8024A>T (FANCL)
ENST00000696376.1:n.6877A>T (FANCL)
ENST00000696378.1:c.*1109A>T (FANCL) ENSP00000512589.1:n.*1109A>T
ENST00000696394.1:n.4593A>T (FANCL)
ENST00000696395.1:n.4532A>T (FANCL)
ENST00000696396.1:n.2245A>T (FANCL)
ENST00000696397.1:n.3216A>T (FANCL)
ENST00000696398.1:c.*238A>T (FANCL) ENSP00000512604.1:n.*238A>T
ENST00000696399.1:n.2365A>T (FANCL)
ENST00000696400.1:c.*855A>T (FANCL) ENSP00000512605.1:n.*855A>T
ENST00000696409.1:c.*608A>T (FANCL) ENSP00000512610.1:n.*608A>T
ENST00000696410.1:c.*572A>T (FANCL) ENSP00000512611.1:n.*572A>T
ENST00000696411.1:n.796A>T (FANCL)
ENST00000696412.1:n.1590A>T (FANCL)
ENST00000696413.1:n.1093A>T (FANCL)
ENST00000696414.1:n.2137A>T (FANCL)
ENST00000696415.1:c.*64A>T (FANCL) ENSP00000512612.1:n.*64A>T
ENST00000696416.1:n.1099A>T (FANCL)
ENST00000696432.1:n.3550A>T (FANCL)
ENST00000696433.1:c.*144A>T (FANCL) ENSP00000512627.1:n.*144A>T
ENST00000696434.1:c.929A>T (FANCL) ENSP00000512628.1:p.Lys310Met
ENST00000696435.1:c.*238A>T (FANCL) ENSP00000512629.1:n.*238A>T
ENST00000696436.1:n.1045A>T (FANCL)
ENST00000696437.1:n.1508A>T (FANCL)
ENST00000696438.1:c.*924A>T (FANCL) ENSP00000512630.1:n.*924A>T
ENST00000696439.1:n.3140A>T (FANCL)
ENST00000696440.1:n.2127A>T (FANCL)
ENST00000696454.1:c.*442A>T (FANCL) ENSP00000512641.1:n.*442A>T
ENST00000696455.1:c.*144A>T (FANCL) ENSP00000512642.1:n.*144A>T
ENST00000696456.1:n.601A>T (FANCL)
ENST00000696457.1:c.*1862A>T (FANCL) ENSP00000512643.1:n.*1862A>T
ENST00000696458.1:c.*64A>T (FANCL) ENSP00000512644.1:n.*64A>T
ENST00000696459.1:c.*526A>T (FANCL) ENSP00000512645.1:n.*526A>T
ENST00000696460.1:n.1588A>T (FANCL)
ENST00000696467.1:c.*587A>T (FANCL) ENSP00000512648.1:n.*587A>T
ENST00000696468.1:c.*583A>T (FANCL) ENSP00000512649.1:n.*583A>T
ENST00000696469.1:c.*238A>T (FANCL) ENSP00000512650.1:n.*238A>T
ENST00000696470.1:n.3259A>T (FANCL)
ENST00000696471.1:n.761A>T (FANCL)
ENST00000696472.1:c.*144A>T (FANCL) ENSP00000512651.1:n.*144A>T
ENST00000696473.1:c.*774A>T (FANCL) ENSP00000512652.1:n.*774A>T
ENST00000696474.1:n.967A>T (FANCL)
ENST00000696475.1:n.2599A>T (FANCL)
ENST00000696492.1:c.*756A>T (FANCL) ENSP00000512662.1:n.*756A>T
ENST00000696493.1:c.*939A>T (FANCL) ENSP00000512663.1:n.*939A>T
ENST00000696494.1:n.1123A>T (FANCL)
ENST00000696495.1:c.*837A>T (FANCL) ENSP00000512664.1:n.*837A>T
ENST00000696496.1:n.1630A>T (FANCL)
ENST00000696497.1:n.4388A>T (FANCL)
ENST00000696498.1:n.1850A>T (FANCL)
ENST00000696499.1:c.*528A>T (FANCL) ENSP00000512665.1:n.*528A>T
ENST00000696508.1:c.*646A>T (FANCL) ENSP00000512674.1:n.*646A>T
ENST00000696509.1:c.*968A>T (FANCL) ENSP00000512675.1:n.*968A>T
ENST00000696510.1:c.563A>T (FANCL) ENSP00000512676.1:p.Lys188Met
ENST00000696527.1:c.*144A>T (FANCL) ENSP00000512690.1:n.*144A>T
ENST00000696528.1:c.*144A>T (FANCL) ENSP00000512691.1:n.*144A>T
ENST00000696529.1:n.954A>T (FANCL)
ENST00000696530.1:c.887A>T (FANCL) ENSP00000512692.1:p.Lys296Met
ENST00000696531.1:c.*623A>T (FANCL) ENSP00000512693.1:n.*623A>T
ENST00000696532.1:n.2238A>T (FANCL)
ENST00000696542.1:n.1029A>T (FANCL)
ENST00000696543.1:c.*144A>T (FANCL) ENSP00000512703.1:n.*144A>T
ENST00000696544.1:c.*144A>T (FANCL) ENSP00000512704.1:n.*144A>T
ENST00000696545.1:c.*759A>T (FANCL) ENSP00000512705.1:n.*759A>T
ENST00000696546.1:c.*870A>T (FANCL) ENSP00000512706.1:n.*870A>T
ENST00000696547.1:c.1079A>T (FANCL) ENSP00000512707.1:p.Lys360Met
ENST00000696548.1:c.*1295A>T (FANCL) ENSP00000512708.1:n.*1295A>T
ENST00000696564.1:c.*144A>T (FANCL) ENSP00000512722.1:n.*144A>T
ENST00000696565.1:c.*144A>T (FANCL) ENSP00000512723.1:n.*144A>T
ENST00000696566.1:n.3679A>T (FANCL)
ENST00000696567.1:c.986A>T (FANCL) ENSP00000512724.1:p.Lys329Met
ENST00000696568.1:n.517A>T (FANCL)
ENST00000696569.1:n.1200A>T (FANCL)
ENST00000696570.1:c.*413A>T (FANCL) ENSP00000512725.1:n.*413A>T
ENST00000696619.1:n.2647A>T (FANCL)
ENST00000696620.1:c.683A>T (FANCL) ENSP00000512759.1:p.Lys228Met
ENST00000696621.1:c.*238A>T (FANCL) ENSP00000512760.1:n.*238A>T
ENST00000696622.1:n.2822A>T (FANCL)
ENST00000696623.1:n.1057A>T (FANCL)
ENST00000696624.1:c.1022A>T (FANCL) ENSP00000512761.1:p.Lys341Met
ENST00000696625.1:c.*541A>T (FANCL) ENSP00000512762.1:n.*541A>T
ENST00000696634.1:c.804A>T (FANCL) ENSP00000512770.1:n.804A>T
ENST00000696635.1:c.1067A>T (FANCL) ENSP00000512771.1:p.Lys356Met
ENST00000696636.1:n.3543A>T (FANCL)
ENST00000696637.1:n.8164A>T (FANCL)
ENST00000696638.1:n.1106A>T (FANCL)
ENST00000696639.1:n.3169A>T (FANCL)
ENST00000233741.9:c.1091A>T (FANCL) MANE Select ENSP00000233741.5:p.Lys364Met
ENST00000233741.8:c.1091A>T (FANCL) ENSP00000233741.4:p.Lys364Met
ENST00000402135.7:c.1106A>T (FANCL) ENSP00000385021.3:p.Lys369Met
ENST00000403295.7:c.1007A>T (FANCL) ENSP00000386097.3:p.Lys336Met
ENST00000403676.5:c.740A>T (FANCL) ENSP00000384046.1:p.Lys247Met
NM_001114636.1:c.1106A>T , LRG_501t1:c.1106A>T (FANCL) NP_001108108.1:p.Lys369Met
NM_018062.3:c.1091A>T , LRG_501t2:c.1091A>T (FANCL) NP_060532.2:p.Lys364Met
XM_005264395.2:c.1091A>T (FANCL) XP_005264452.1:p.Lys364Met
XM_005264397.3:c.740A>T (FANCL) XP_005264454.1:p.Lys247Met
XM_011532939.1:c.1151A>T (FANCL) XP_011531241.1:p.Lys384Met
XM_011532940.1:c.1136A>T (FANCL) XP_011531242.1:p.Lys379Met
XM_011532941.1:c.1151A>T (FANCL) XP_011531243.1:p.Lys384Met
XM_011532942.1:c.1106A>T (FANCL) XP_011531244.1:p.Lys369Met
XM_011532943.1:c.1352A>T (FANCL) XP_011531245.1:p.Lys451Met
XM_011532944.1:c.800A>T (FANCL) XP_011531246.1:p.Lys267Met
XM_011532945.1:c.755A>T (FANCL) XP_011531247.1:p.Lys252Met
XR_939692.1:n.1090A>T (FANCL)
NR_156742.1:n.880A>T (FANCL)
XM_005264395.4:c.1091A>T (FANCL) XP_005264452.1:p.Lys364Met
XM_005264540.4:c.*416T>A (VRK2) XP_005264597.1:n.*416T>A
XM_006712090.4:c.*793T>A (VRK2) XP_006712153.1:n.*793T>A
XM_006712092.4:c.*416T>A (VRK2) XP_006712155.1:n.*416T>A
XM_006712093.4:c.*416T>A (VRK2) XP_006712156.1:n.*416T>A
XM_011532939.3:c.1151A>T (FANCL) XP_011531241.1:p.Lys384Met
XM_011532940.3:c.1136A>T (FANCL) XP_011531242.1:p.Lys379Met
XM_011532941.2:c.1151A>T (FANCL) XP_011531243.1:p.Lys384Met
XM_011532942.3:c.1106A>T (FANCL) XP_011531244.1:p.Lys369Met
XM_011532944.2:c.800A>T (FANCL) XP_011531246.1:p.Lys267Met
XM_011532945.2:c.755A>T (FANCL) XP_011531247.1:p.Lys252Met
XM_011533092.3:c.*416T>A (VRK2) XP_011531394.1:n.*416T>A
XM_017004414.2:c.1136A>T (FANCL) XP_016859903.1:p.Lys379Met
XM_017004416.1:c.740A>T (FANCL) XP_016859905.1:p.Lys247Met
XM_017004858.2:c.*793T>A (VRK2) XP_016860347.1:n.*793T>A
XM_017004859.2:c.*416T>A (VRK2) XP_016860348.1:n.*416T>A
XM_017004860.2:c.*416T>A (VRK2) XP_016860349.1:n.*416T>A
XM_017004861.2:c.*416T>A (VRK2) XP_016860350.1:n.*416T>A
XM_017004862.2:c.*416T>A (VRK2) XP_016860351.1:n.*416T>A
XM_017004863.2:c.*416T>A (VRK2) XP_016860352.1:n.*416T>A
XM_017004864.2:c.*793T>A (VRK2) XP_016860353.1:n.*793T>A
XM_017004865.1:c.*801T>A (VRK2) XP_016860354.1:n.*801T>A
XM_017004866.1:c.*801T>A (VRK2) XP_016860355.1:n.*801T>A
XR_001738802.2:n.1037A>T (FANCL)
XR_001738803.2:n.1022A>T (FANCL)
XR_002959309.1:n.1733A>T (FANCL)
XR_939692.2:n.1082A>T (FANCL)
NM_001374615.1:c.1136A>T (FANCL) NP_001361544.1:p.Lys379Met
NM_018062.4:c.1091A>T (FANCL) MANE Select NP_060532.2:p.Lys364Met
NR_164659.1:n.972A>T (FANCL)