Canonical Allele Identifier: CA346931319

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.58160163A>G , CM000664.2:g.58160163A>G GRCh38
NC_000002.11:g.58387298A>G , CM000664.1:g.58387298A>G GRCh37
NC_000002.10:g.58240802A>G NCBI36
NG_007418.1:g.86217T>C , LRG_501:g.86217T>C
NG_029717.2:g.257423A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000402135.8:c.1052T>C (FANCL) ENSP00000385021.3:p.Leu351Pro
ENST00000403295.8:c.953T>C (FANCL) ENSP00000386097.3:p.Leu318Pro
ENST00000403676.6:c.*600T>C (FANCL) ENSP00000384046.2:n.*600T>C
ENST00000417361.2:c.*615T>C (FANCL) ENSP00000389448.2:n.*615T>C
ENST00000427708.7:c.1082T>C (FANCL) ENSP00000400969.3:p.Leu361Pro
ENST00000446381.6:c.593T>C (FANCL) ENSP00000390991.2:p.Leu198Pro
ENST00000449070.6:c.860T>C (FANCL) ENSP00000401280.2:p.Leu287Pro
ENST00000470506.2:n.1551T>C (FANCL)
ENST00000696305.1:c.980T>C (FANCL) ENSP00000512543.1:p.Leu327Pro
ENST00000696306.1:c.*927T>C (FANCL) ENSP00000512544.1:n.*927T>C
ENST00000696307.1:c.1022T>C (FANCL) ENSP00000512545.1:p.Leu341Pro
ENST00000696314.1:c.*90T>C (FANCL) ENSP00000512552.1:n.*90T>C
ENST00000696315.1:c.*600T>C (FANCL) ENSP00000512553.1:n.*600T>C
ENST00000696316.1:c.920T>C (FANCL) ENSP00000512554.1:p.Leu307Pro
ENST00000696317.1:c.*10T>C (FANCL) ENSP00000512555.1:n.*10T>C
ENST00000696318.1:c.*90T>C (FANCL) ENSP00000512556.1:n.*90T>C
ENST00000696319.1:c.995T>C (FANCL) ENSP00000512557.1:p.Leu332Pro
ENST00000696320.1:n.2716T>C (FANCL)
ENST00000696324.1:c.*487T>C (FANCL) ENSP00000512561.1:n.*487T>C
ENST00000696325.1:n.4120T>C (FANCL)
ENST00000696326.1:c.1097T>C (FANCL) ENSP00000512562.1:p.Leu366Pro
ENST00000696338.1:n.1151T>C (FANCL)
ENST00000696339.1:n.2609T>C (FANCL)
ENST00000696340.1:n.3263T>C (FANCL)
ENST00000696341.1:n.1545T>C (FANCL)
ENST00000696342.1:c.*2267T>C (FANCL) ENSP00000512569.1:n.*2267T>C
ENST00000696343.1:n.2896T>C (FANCL)
ENST00000696344.1:c.*751T>C (FANCL) ENSP00000512570.1:n.*751T>C
ENST00000696358.1:n.3710T>C (FANCL)
ENST00000696359.1:n.3387T>C (FANCL)
ENST00000696360.1:n.1822T>C (FANCL)
ENST00000696361.1:c.*1040T>C (FANCL) ENSP00000512579.1:n.*1040T>C
ENST00000696362.1:c.*487T>C (FANCL) ENSP00000512580.1:n.*487T>C
ENST00000696363.1:n.2814T>C (FANCL)
ENST00000696364.1:n.1430T>C (FANCL)
ENST00000696371.1:c.1028T>C (FANCL) ENSP00000512586.1:p.Leu343Pro
ENST00000696372.1:n.2126T>C (FANCL)
ENST00000696373.1:c.*2267T>C (FANCL) ENSP00000512587.1:n.*2267T>C
ENST00000696374.1:c.*405T>C (FANCL) ENSP00000512588.1:n.*405T>C
ENST00000696375.1:n.7970T>C (FANCL)
ENST00000696376.1:n.6823T>C (FANCL)
ENST00000696378.1:c.*1055T>C (FANCL) ENSP00000512589.1:n.*1055T>C
ENST00000696394.1:n.4539T>C (FANCL)
ENST00000696395.1:n.4478T>C (FANCL)
ENST00000696396.1:n.2191T>C (FANCL)
ENST00000696397.1:n.3162T>C (FANCL)
ENST00000696398.1:c.*184T>C (FANCL) ENSP00000512604.1:n.*184T>C
ENST00000696399.1:n.2311T>C (FANCL)
ENST00000696400.1:c.*801T>C (FANCL) ENSP00000512605.1:n.*801T>C
ENST00000696409.1:c.*554T>C (FANCL) ENSP00000512610.1:n.*554T>C
ENST00000696410.1:c.*518T>C (FANCL) ENSP00000512611.1:n.*518T>C
ENST00000696411.1:n.742T>C (FANCL)
ENST00000696412.1:n.1536T>C (FANCL)
ENST00000696413.1:n.1039T>C (FANCL)
ENST00000696414.1:n.2083T>C (FANCL)
ENST00000696415.1:c.*10T>C (FANCL) ENSP00000512612.1:n.*10T>C
ENST00000696416.1:n.1045T>C (FANCL)
ENST00000696432.1:n.3496T>C (FANCL)
ENST00000696433.1:c.*90T>C (FANCL) ENSP00000512627.1:n.*90T>C
ENST00000696434.1:c.875T>C (FANCL) ENSP00000512628.1:p.Leu292Pro
ENST00000696435.1:c.*184T>C (FANCL) ENSP00000512629.1:n.*184T>C
ENST00000696436.1:n.991T>C (FANCL)
ENST00000696437.1:n.1454T>C (FANCL)
ENST00000696438.1:c.*870T>C (FANCL) ENSP00000512630.1:n.*870T>C
ENST00000696439.1:n.3086T>C (FANCL)
ENST00000696440.1:n.2073T>C (FANCL)
ENST00000696454.1:c.*388T>C (FANCL) ENSP00000512641.1:n.*388T>C
ENST00000696455.1:c.*90T>C (FANCL) ENSP00000512642.1:n.*90T>C
ENST00000696456.1:n.547T>C (FANCL)
ENST00000696457.1:c.*1808T>C (FANCL) ENSP00000512643.1:n.*1808T>C
ENST00000696458.1:c.*10T>C (FANCL) ENSP00000512644.1:n.*10T>C
ENST00000696459.1:c.*472T>C (FANCL) ENSP00000512645.1:n.*472T>C
ENST00000696460.1:n.1534T>C (FANCL)
ENST00000696467.1:c.*533T>C (FANCL) ENSP00000512648.1:n.*533T>C
ENST00000696468.1:c.*529T>C (FANCL) ENSP00000512649.1:n.*529T>C
ENST00000696469.1:c.*184T>C (FANCL) ENSP00000512650.1:n.*184T>C
ENST00000696470.1:n.3205T>C (FANCL)
ENST00000696471.1:n.707T>C (FANCL)
ENST00000696472.1:c.*90T>C (FANCL) ENSP00000512651.1:n.*90T>C
ENST00000696473.1:c.*720T>C (FANCL) ENSP00000512652.1:n.*720T>C
ENST00000696474.1:n.913T>C (FANCL)
ENST00000696475.1:n.2545T>C (FANCL)
ENST00000696492.1:c.*702T>C (FANCL) ENSP00000512662.1:n.*702T>C
ENST00000696493.1:c.*885T>C (FANCL) ENSP00000512663.1:n.*885T>C
ENST00000696494.1:n.1069T>C (FANCL)
ENST00000696495.1:c.*783T>C (FANCL) ENSP00000512664.1:n.*783T>C
ENST00000696496.1:n.1576T>C (FANCL)
ENST00000696497.1:n.4334T>C (FANCL)
ENST00000696498.1:n.1796T>C (FANCL)
ENST00000696499.1:c.*474T>C (FANCL) ENSP00000512665.1:n.*474T>C
ENST00000696508.1:c.*592T>C (FANCL) ENSP00000512674.1:n.*592T>C
ENST00000696509.1:c.*914T>C (FANCL) ENSP00000512675.1:n.*914T>C
ENST00000696510.1:c.509T>C (FANCL) ENSP00000512676.1:p.Leu170Pro
ENST00000696527.1:c.*90T>C (FANCL) ENSP00000512690.1:n.*90T>C
ENST00000696528.1:c.*90T>C (FANCL) ENSP00000512691.1:n.*90T>C
ENST00000696529.1:n.900T>C (FANCL)
ENST00000696530.1:c.833T>C (FANCL) ENSP00000512692.1:p.Leu278Pro
ENST00000696531.1:c.*569T>C (FANCL) ENSP00000512693.1:n.*569T>C
ENST00000696532.1:n.2184T>C (FANCL)
ENST00000696542.1:n.975T>C (FANCL)
ENST00000696543.1:c.*90T>C (FANCL) ENSP00000512703.1:n.*90T>C
ENST00000696544.1:c.*90T>C (FANCL) ENSP00000512704.1:n.*90T>C
ENST00000696545.1:c.*705T>C (FANCL) ENSP00000512705.1:n.*705T>C
ENST00000696546.1:c.*816T>C (FANCL) ENSP00000512706.1:n.*816T>C
ENST00000696547.1:c.1025T>C (FANCL) ENSP00000512707.1:p.Leu342Pro
ENST00000696548.1:c.*1241T>C (FANCL) ENSP00000512708.1:n.*1241T>C
ENST00000696564.1:c.*90T>C (FANCL) ENSP00000512722.1:n.*90T>C
ENST00000696565.1:c.*90T>C (FANCL) ENSP00000512723.1:n.*90T>C
ENST00000696566.1:n.3625T>C (FANCL)
ENST00000696567.1:c.932T>C (FANCL) ENSP00000512724.1:p.Leu311Pro
ENST00000696568.1:n.463T>C (FANCL)
ENST00000696569.1:n.1146T>C (FANCL)
ENST00000696570.1:c.*359T>C (FANCL) ENSP00000512725.1:n.*359T>C
ENST00000696619.1:n.2593T>C (FANCL)
ENST00000696620.1:c.629T>C (FANCL) ENSP00000512759.1:p.Leu210Pro
ENST00000696621.1:c.*184T>C (FANCL) ENSP00000512760.1:n.*184T>C
ENST00000696622.1:n.2768T>C (FANCL)
ENST00000696623.1:n.1003T>C (FANCL)
ENST00000696624.1:c.968T>C (FANCL) ENSP00000512761.1:p.Leu323Pro
ENST00000696625.1:c.*487T>C (FANCL) ENSP00000512762.1:n.*487T>C
ENST00000696634.1:c.750T>C (FANCL) ENSP00000512770.1:n.750T>C
ENST00000696635.1:c.1013T>C (FANCL) ENSP00000512771.1:p.Leu338Pro
ENST00000696636.1:n.3489T>C (FANCL)
ENST00000696637.1:n.8110T>C (FANCL)
ENST00000696638.1:n.1052T>C (FANCL)
ENST00000696639.1:n.3115T>C (FANCL)
ENST00000233741.9:c.1037T>C (FANCL) MANE Select ENSP00000233741.5:p.Leu346Pro
ENST00000233741.8:c.1037T>C (FANCL) ENSP00000233741.4:p.Leu346Pro
ENST00000402135.7:c.1052T>C (FANCL) ENSP00000385021.3:p.Leu351Pro
ENST00000403295.7:c.953T>C (FANCL) ENSP00000386097.3:p.Leu318Pro
ENST00000403676.5:c.686T>C (FANCL) ENSP00000384046.1:p.Leu229Pro
ENST00000449070.5:c.860T>C (FANCL) ENSP00000401280.1:p.Leu287Pro
NM_001114636.1:c.1052T>C , LRG_501t1:c.1052T>C (FANCL) NP_001108108.1:p.Leu351Pro
NM_018062.3:c.1037T>C , LRG_501t2:c.1037T>C (FANCL) NP_060532.2:p.Leu346Pro
XM_005264395.2:c.1037T>C (FANCL) XP_005264452.1:p.Leu346Pro
XM_005264397.3:c.686T>C (FANCL) XP_005264454.1:p.Leu229Pro
XM_011532939.1:c.1097T>C (FANCL) XP_011531241.1:p.Leu366Pro
XM_011532940.1:c.1082T>C (FANCL) XP_011531242.1:p.Leu361Pro
XM_011532941.1:c.1097T>C (FANCL) XP_011531243.1:p.Leu366Pro
XM_011532942.1:c.1052T>C (FANCL) XP_011531244.1:p.Leu351Pro
XM_011532943.1:c.1298T>C (FANCL) XP_011531245.1:p.Leu433Pro
XM_011532944.1:c.746T>C (FANCL) XP_011531246.1:p.Leu249Pro
XM_011532945.1:c.701T>C (FANCL) XP_011531247.1:p.Leu234Pro
XR_939692.1:n.1036T>C (FANCL)
NR_156742.1:n.826T>C (FANCL)
XM_005264395.4:c.1037T>C (FANCL) XP_005264452.1:p.Leu346Pro
XM_005264540.4:c.*470A>G (VRK2) XP_005264597.1:n.*470A>G
XM_006712090.4:c.*847A>G (VRK2) XP_006712153.1:n.*847A>G
XM_006712092.4:c.*470A>G (VRK2) XP_006712155.1:n.*470A>G
XM_006712093.4:c.*470A>G (VRK2) XP_006712156.1:n.*470A>G
XM_011532939.3:c.1097T>C (FANCL) XP_011531241.1:p.Leu366Pro
XM_011532940.3:c.1082T>C (FANCL) XP_011531242.1:p.Leu361Pro
XM_011532941.2:c.1097T>C (FANCL) XP_011531243.1:p.Leu366Pro
XM_011532942.3:c.1052T>C (FANCL) XP_011531244.1:p.Leu351Pro
XM_011532944.2:c.746T>C (FANCL) XP_011531246.1:p.Leu249Pro
XM_011532945.2:c.701T>C (FANCL) XP_011531247.1:p.Leu234Pro
XM_011533092.3:c.*470A>G (VRK2) XP_011531394.1:n.*470A>G
XM_017004414.2:c.1082T>C (FANCL) XP_016859903.1:p.Leu361Pro
XM_017004416.1:c.686T>C (FANCL) XP_016859905.1:p.Leu229Pro
XM_017004858.2:c.*847A>G (VRK2) XP_016860347.1:n.*847A>G
XM_017004859.2:c.*470A>G (VRK2) XP_016860348.1:n.*470A>G
XM_017004860.2:c.*470A>G (VRK2) XP_016860349.1:n.*470A>G
XM_017004861.2:c.*470A>G (VRK2) XP_016860350.1:n.*470A>G
XM_017004862.2:c.*470A>G (VRK2) XP_016860351.1:n.*470A>G
XM_017004863.2:c.*470A>G (VRK2) XP_016860352.1:n.*470A>G
XM_017004864.2:c.*847A>G (VRK2) XP_016860353.1:n.*847A>G
XM_017004865.1:c.*855A>G (VRK2) XP_016860354.1:n.*855A>G
XM_017004866.1:c.*855A>G (VRK2) XP_016860355.1:n.*855A>G
XR_001738802.2:n.983T>C (FANCL)
XR_001738803.2:n.968T>C (FANCL)
XR_002959309.1:n.1679T>C (FANCL)
XR_939692.2:n.1028T>C (FANCL)
NM_001374615.1:c.1082T>C (FANCL) NP_001361544.1:p.Leu361Pro
NM_018062.4:c.1037T>C (FANCL) MANE Select NP_060532.2:p.Leu346Pro
NR_164659.1:n.918T>C (FANCL)