Canonical Allele Identifier: CA1670327
Gene: FANCL HGNC NCBI
VRK2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.58160176G>C , CM000664.2:g.58160176G>C GRCh38
NC_000002.11:g.58387311G>C , CM000664.1:g.58387311G>C GRCh37
NC_000002.10:g.58240815G>C NCBI36
NG_007418.1:g.86204C>G , LRG_501:g.86204C>G
NG_029717.2:g.257436G>C

Transcript Alleles

HGVS Amino-acid Change
NM_018062.4:c.1024C>G (FANCL) MANE Select NP_060532.2:p.Leu342Val
ENST00000233741.9:c.1024C>G (FANCL) MANE Select ENSP00000233741.5:p.Leu342Val
NM_001114636.1:c.1039C>G , LRG_501t1:c.1039C>G (FANCL) NP_001108108.1:p.Leu347Val
NM_001374615.1:c.1069C>G (FANCL) NP_001361544.1:p.Leu357Val
NM_018062.3:c.1024C>G , LRG_501t2:c.1024C>G (FANCL) NP_060532.2:p.Leu342Val
NR_156742.1:n.813C>G (FANCL)
NR_164659.1:n.905C>G (FANCL)
ENST00000233741.8:c.1024C>G (FANCL) ENSP00000233741.4:p.Leu342Val
ENST00000402135.7:c.1039C>G (FANCL) ENSP00000385021.3:p.Leu347Val
ENST00000402135.8:c.1039C>G (FANCL) ENSP00000385021.3:p.Leu347Val
ENST00000403295.7:c.940C>G (FANCL) ENSP00000386097.3:p.Leu314Val
ENST00000403295.8:c.940C>G (FANCL) ENSP00000386097.3:p.Leu314Val
ENST00000403676.5:c.673C>G (FANCL) ENSP00000384046.1:p.Leu225Val
ENST00000403676.6:c.*587C>G (FANCL) ENSP00000384046.2:n.*587C>G
ENST00000417361.2:c.*602C>G (FANCL) ENSP00000389448.2:n.*602C>G
ENST00000427708.7:c.1069C>G (FANCL) ENSP00000400969.3:p.Leu357Val
ENST00000446381.6:c.580C>G (FANCL) ENSP00000390991.2:p.Leu194Val
ENST00000449070.5:c.847C>G (FANCL) ENSP00000401280.1:p.Leu283Val
ENST00000449070.6:c.847C>G (FANCL) ENSP00000401280.2:p.Leu283Val
ENST00000470506.2:n.1538C>G (FANCL)
ENST00000696305.1:c.967C>G (FANCL) ENSP00000512543.1:p.Leu323Val
ENST00000696306.1:c.*914C>G (FANCL) ENSP00000512544.1:n.*914C>G
ENST00000696307.1:c.1009C>G (FANCL) ENSP00000512545.1:p.Leu337Val
ENST00000696314.1:c.*77C>G (FANCL) ENSP00000512552.1:n.*77C>G
ENST00000696315.1:c.*587C>G (FANCL) ENSP00000512553.1:n.*587C>G
ENST00000696316.1:c.907C>G (FANCL) ENSP00000512554.1:p.Leu303Val
ENST00000696317.1:c.942C>G (FANCL) ENSP00000512555.1:p.Gly314=
ENST00000696318.1:c.*77C>G (FANCL) ENSP00000512556.1:n.*77C>G
ENST00000696319.1:c.982C>G (FANCL) ENSP00000512557.1:p.Leu328Val
ENST00000696320.1:n.2703C>G (FANCL)
ENST00000696324.1:c.*474C>G (FANCL) ENSP00000512561.1:n.*474C>G
ENST00000696325.1:n.4107C>G (FANCL)
ENST00000696326.1:c.1084C>G (FANCL) ENSP00000512562.1:p.Leu362Val
ENST00000696338.1:n.1138C>G (FANCL)
ENST00000696339.1:n.2596C>G (FANCL)
ENST00000696340.1:n.3250C>G (FANCL)
ENST00000696341.1:n.1532C>G (FANCL)
ENST00000696342.1:c.*2254C>G (FANCL) ENSP00000512569.1:n.*2254C>G
ENST00000696343.1:n.2883C>G (FANCL)
ENST00000696344.1:c.*738C>G (FANCL) ENSP00000512570.1:n.*738C>G
ENST00000696358.1:n.3697C>G (FANCL)
ENST00000696359.1:n.3374C>G (FANCL)
ENST00000696360.1:n.1809C>G (FANCL)
ENST00000696361.1:c.*1027C>G (FANCL) ENSP00000512579.1:n.*1027C>G
ENST00000696362.1:c.*474C>G (FANCL) ENSP00000512580.1:n.*474C>G
ENST00000696363.1:n.2801C>G (FANCL)
ENST00000696364.1:n.1417C>G (FANCL)
ENST00000696371.1:c.1015C>G (FANCL) ENSP00000512586.1:p.Leu339Val
ENST00000696372.1:n.2113C>G (FANCL)
ENST00000696373.1:c.*2254C>G (FANCL) ENSP00000512587.1:n.*2254C>G
ENST00000696374.1:c.*392C>G (FANCL) ENSP00000512588.1:n.*392C>G
ENST00000696375.1:n.7957C>G (FANCL)
ENST00000696376.1:n.6810C>G (FANCL)
ENST00000696378.1:c.*1042C>G (FANCL) ENSP00000512589.1:n.*1042C>G
ENST00000696394.1:n.4526C>G (FANCL)
ENST00000696395.1:n.4465C>G (FANCL)
ENST00000696396.1:n.2178C>G (FANCL)
ENST00000696397.1:n.3149C>G (FANCL)
ENST00000696398.1:c.*171C>G (FANCL) ENSP00000512604.1:n.*171C>G
ENST00000696399.1:n.2298C>G (FANCL)
ENST00000696400.1:c.*788C>G (FANCL) ENSP00000512605.1:n.*788C>G
ENST00000696409.1:c.*541C>G (FANCL) ENSP00000512610.1:n.*541C>G
ENST00000696410.1:c.*505C>G (FANCL) ENSP00000512611.1:n.*505C>G
ENST00000696411.1:n.729C>G (FANCL)
ENST00000696412.1:n.1523C>G (FANCL)
ENST00000696413.1:n.1026C>G (FANCL)
ENST00000696414.1:n.2070C>G (FANCL)
ENST00000696415.1:c.957C>G (FANCL) ENSP00000512612.1:p.Gly319=
ENST00000696416.1:n.1032C>G (FANCL)
ENST00000696432.1:n.3483C>G (FANCL)
ENST00000696433.1:c.*77C>G (FANCL) ENSP00000512627.1:n.*77C>G
ENST00000696434.1:c.862C>G (FANCL) ENSP00000512628.1:p.Leu288Val
ENST00000696435.1:c.*171C>G (FANCL) ENSP00000512629.1:n.*171C>G
ENST00000696436.1:n.978C>G (FANCL)
ENST00000696437.1:n.1441C>G (FANCL)
ENST00000696438.1:c.*857C>G (FANCL) ENSP00000512630.1:n.*857C>G
ENST00000696439.1:n.3073C>G (FANCL)
ENST00000696440.1:n.2060C>G (FANCL)
ENST00000696454.1:c.*375C>G (FANCL) ENSP00000512641.1:n.*375C>G
ENST00000696455.1:c.*77C>G (FANCL) ENSP00000512642.1:n.*77C>G
ENST00000696456.1:n.534C>G (FANCL)
ENST00000696457.1:c.*1795C>G (FANCL) ENSP00000512643.1:n.*1795C>G
ENST00000696458.1:c.885C>G (FANCL) ENSP00000512644.1:p.Gly295=
ENST00000696459.1:c.*459C>G (FANCL) ENSP00000512645.1:n.*459C>G
ENST00000696460.1:n.1521C>G (FANCL)
ENST00000696467.1:c.*520C>G (FANCL) ENSP00000512648.1:n.*520C>G
ENST00000696468.1:c.*516C>G (FANCL) ENSP00000512649.1:n.*516C>G
ENST00000696469.1:c.*171C>G (FANCL) ENSP00000512650.1:n.*171C>G
ENST00000696470.1:n.3192C>G (FANCL)
ENST00000696471.1:n.694C>G (FANCL)
ENST00000696472.1:c.*77C>G (FANCL) ENSP00000512651.1:n.*77C>G
ENST00000696473.1:c.*707C>G (FANCL) ENSP00000512652.1:n.*707C>G
ENST00000696474.1:n.900C>G (FANCL)
ENST00000696475.1:n.2532C>G (FANCL)
ENST00000696492.1:c.*689C>G (FANCL) ENSP00000512662.1:n.*689C>G
ENST00000696493.1:c.*872C>G (FANCL) ENSP00000512663.1:n.*872C>G
ENST00000696494.1:n.1056C>G (FANCL)
ENST00000696495.1:c.*770C>G (FANCL) ENSP00000512664.1:n.*770C>G
ENST00000696496.1:n.1563C>G (FANCL)
ENST00000696497.1:n.4321C>G (FANCL)
ENST00000696498.1:n.1783C>G (FANCL)
ENST00000696499.1:c.*461C>G (FANCL) ENSP00000512665.1:n.*461C>G
ENST00000696508.1:c.*579C>G (FANCL) ENSP00000512674.1:n.*579C>G
ENST00000696509.1:c.*901C>G (FANCL) ENSP00000512675.1:n.*901C>G
ENST00000696510.1:c.496C>G (FANCL) ENSP00000512676.1:p.Leu166Val
ENST00000696527.1:c.*77C>G (FANCL) ENSP00000512690.1:n.*77C>G
ENST00000696528.1:c.*77C>G (FANCL) ENSP00000512691.1:n.*77C>G
ENST00000696529.1:n.887C>G (FANCL)
ENST00000696530.1:c.820C>G (FANCL) ENSP00000512692.1:p.Leu274Val
ENST00000696531.1:c.*556C>G (FANCL) ENSP00000512693.1:n.*556C>G
ENST00000696532.1:n.2171C>G (FANCL)
ENST00000696542.1:n.962C>G (FANCL)
ENST00000696543.1:c.*77C>G (FANCL) ENSP00000512703.1:n.*77C>G
ENST00000696544.1:c.*77C>G (FANCL) ENSP00000512704.1:n.*77C>G
ENST00000696545.1:c.*692C>G (FANCL) ENSP00000512705.1:n.*692C>G
ENST00000696546.1:c.*803C>G (FANCL) ENSP00000512706.1:n.*803C>G
ENST00000696547.1:c.1012C>G (FANCL) ENSP00000512707.1:p.Leu338Val
ENST00000696548.1:c.*1228C>G (FANCL) ENSP00000512708.1:n.*1228C>G
ENST00000696564.1:c.*77C>G (FANCL) ENSP00000512722.1:n.*77C>G
ENST00000696565.1:c.*77C>G (FANCL) ENSP00000512723.1:n.*77C>G
ENST00000696566.1:n.3612C>G (FANCL)
ENST00000696567.1:c.919C>G (FANCL) ENSP00000512724.1:p.Leu307Val
ENST00000696568.1:n.450C>G (FANCL)
ENST00000696569.1:n.1133C>G (FANCL)
ENST00000696570.1:c.*346C>G (FANCL) ENSP00000512725.1:n.*346C>G
ENST00000696619.1:n.2580C>G (FANCL)
ENST00000696620.1:c.616C>G (FANCL) ENSP00000512759.1:p.Leu206Val
ENST00000696621.1:c.*171C>G (FANCL) ENSP00000512760.1:n.*171C>G
ENST00000696622.1:n.2755C>G (FANCL)
ENST00000696623.1:n.990C>G (FANCL)
ENST00000696624.1:c.955C>G (FANCL) ENSP00000512761.1:p.Leu319Val
ENST00000696625.1:c.*474C>G (FANCL) ENSP00000512762.1:n.*474C>G
ENST00000696634.1:c.737C>G (FANCL) ENSP00000512770.1:n.737C>G
ENST00000696635.1:c.1000C>G (FANCL) ENSP00000512771.1:p.Leu334Val
ENST00000696636.1:n.3476C>G (FANCL)
ENST00000696637.1:n.8097C>G (FANCL)
ENST00000696638.1:n.1039C>G (FANCL)
ENST00000696639.1:n.3102C>G (FANCL)
XM_005264395.2:c.1024C>G (FANCL) XP_005264452.1:p.Leu342Val
XM_005264395.4:c.1024C>G (FANCL) XP_005264452.1:p.Leu342Val
XM_005264397.3:c.673C>G (FANCL) XP_005264454.1:p.Leu225Val
XM_005264540.4:c.*483G>C (VRK2) XP_005264597.1:n.*483G>C
XM_006712090.4:c.*860G>C (VRK2) XP_006712153.1:n.*860G>C
XM_006712092.4:c.*483G>C (VRK2) XP_006712155.1:n.*483G>C
XM_006712093.4:c.*483G>C (VRK2) XP_006712156.1:n.*483G>C
XM_011532939.1:c.1084C>G (FANCL) XP_011531241.1:p.Leu362Val
XM_011532939.3:c.1084C>G (FANCL) XP_011531241.1:p.Leu362Val
XM_011532940.1:c.1069C>G (FANCL) XP_011531242.1:p.Leu357Val
XM_011532940.3:c.1069C>G (FANCL) XP_011531242.1:p.Leu357Val
XM_011532941.1:c.1084C>G (FANCL) XP_011531243.1:p.Leu362Val
XM_011532941.2:c.1084C>G (FANCL) XP_011531243.1:p.Leu362Val
XM_011532942.1:c.1039C>G (FANCL) XP_011531244.1:p.Leu347Val
XM_011532942.3:c.1039C>G (FANCL) XP_011531244.1:p.Leu347Val
XM_011532943.1:c.1285C>G (FANCL) XP_011531245.1:p.Leu429Val
XM_011532944.1:c.733C>G (FANCL) XP_011531246.1:p.Leu245Val
XM_011532944.2:c.733C>G (FANCL) XP_011531246.1:p.Leu245Val
XM_011532945.1:c.688C>G (FANCL) XP_011531247.1:p.Leu230Val
XM_011532945.2:c.688C>G (FANCL) XP_011531247.1:p.Leu230Val
XM_011533092.3:c.*483G>C (VRK2) XP_011531394.1:n.*483G>C
XM_017004414.2:c.1069C>G (FANCL) XP_016859903.1:p.Leu357Val
XM_017004416.1:c.673C>G (FANCL) XP_016859905.1:p.Leu225Val
XM_017004858.2:c.*860G>C (VRK2) XP_016860347.1:n.*860G>C
XM_017004859.2:c.*483G>C (VRK2) XP_016860348.1:n.*483G>C
XM_017004860.2:c.*483G>C (VRK2) XP_016860349.1:n.*483G>C
XM_017004861.2:c.*483G>C (VRK2) XP_016860350.1:n.*483G>C
XM_017004862.2:c.*483G>C (VRK2) XP_016860351.1:n.*483G>C
XM_017004863.2:c.*483G>C (VRK2) XP_016860352.1:n.*483G>C
XM_017004864.2:c.*860G>C (VRK2) XP_016860353.1:n.*860G>C
XM_017004865.1:c.*868G>C (VRK2) XP_016860354.1:n.*868G>C
XM_017004866.1:c.*868G>C (VRK2) XP_016860355.1:n.*868G>C
XR_001738802.2:n.970C>G (FANCL)
XR_001738803.2:n.955C>G (FANCL)
XR_002959309.1:n.1666C>G (FANCL)
XR_939692.1:n.1023C>G (FANCL)
XR_939692.2:n.1015C>G (FANCL)
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