Canonical Allele Identifier: CA346933185
Community Standard Title: NM_018062.4(FANCL):c.933T>G (p.Tyr311Ter)
Gene: FANCL HGNC NCBI
VRK2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.58161609A>C , CM000664.2:g.58161609A>C GRCh38
NC_000002.11:g.58388744A>C , CM000664.1:g.58388744A>C GRCh37
NC_000002.10:g.58242248A>C NCBI36
NG_007418.1:g.84771T>G , LRG_501:g.84771T>G
NG_029717.2:g.258869A>C

Transcript Alleles

HGVS Amino-acid Change
NM_018062.4:c.933T>G (FANCL) MANE Select NP_060532.2:p.Tyr311Ter
ENST00000233741.9:c.933T>G (FANCL) MANE Select ENSP00000233741.5:p.Tyr311Ter
NM_001114636.1:c.948T>G , LRG_501t1:c.948T>G (FANCL) NP_001108108.1:p.Tyr316Ter
NM_001374615.1:c.978T>G (FANCL) NP_001361544.1:p.Tyr326Ter
NM_018062.3:c.933T>G , LRG_501t2:c.933T>G (FANCL) NP_060532.2:p.Tyr311Ter
NR_156742.1:n.722T>G (FANCL)
NR_164659.1:n.814T>G (FANCL)
ENST00000233741.8:c.933T>G (FANCL) ENSP00000233741.4:p.Tyr311Ter
ENST00000402135.7:c.948T>G (FANCL) ENSP00000385021.3:p.Tyr316Ter
ENST00000402135.8:c.948T>G (FANCL) ENSP00000385021.3:p.Tyr316Ter
ENST00000403295.7:c.849T>G (FANCL) ENSP00000386097.3:p.Tyr283Ter
ENST00000403295.8:c.849T>G (FANCL) ENSP00000386097.3:p.Tyr283Ter
ENST00000403676.5:c.582T>G (FANCL) ENSP00000384046.1:p.Tyr194Ter
ENST00000403676.6:c.*496T>G (FANCL) ENSP00000384046.2:n.*496T>G
ENST00000417361.2:c.*511T>G (FANCL) ENSP00000389448.2:n.*511T>G
ENST00000427708.7:c.978T>G (FANCL) ENSP00000400969.3:p.Tyr326Ter
ENST00000446381.6:c.489T>G (FANCL) ENSP00000390991.2:p.Tyr163Ter
ENST00000449070.5:c.756T>G (FANCL) ENSP00000401280.1:p.Tyr252Ter
ENST00000449070.6:c.756T>G (FANCL) ENSP00000401280.2:p.Tyr252Ter
ENST00000470506.2:n.1447T>G (FANCL)
ENST00000696305.1:c.876T>G (FANCL) ENSP00000512543.1:p.Tyr292Ter
ENST00000696306.1:c.*823T>G (FANCL) ENSP00000512544.1:n.*823T>G
ENST00000696307.1:c.918T>G (FANCL) ENSP00000512545.1:p.Tyr306Ter
ENST00000696314.1:c.805T>G (FANCL) ENSP00000512552.1:p.Cys269Gly
ENST00000696315.1:c.*496T>G (FANCL) ENSP00000512553.1:n.*496T>G
ENST00000696316.1:c.903+1257T>G (FANCL) ENSP00000512554.1:n.903+1257T>G
ENST00000696317.1:c.851T>G (FANCL) ENSP00000512555.1:p.Met284Arg
ENST00000696318.1:c.361T>G (FANCL) ENSP00000512556.1:p.Cys121Gly
ENST00000696319.1:c.891T>G (FANCL) ENSP00000512557.1:p.Tyr297Ter
ENST00000696320.1:n.2612T>G (FANCL)
ENST00000696324.1:c.*383T>G (FANCL) ENSP00000512561.1:n.*383T>G
ENST00000696325.1:n.4016T>G (FANCL)
ENST00000696326.1:c.993T>G (FANCL) ENSP00000512562.1:p.Tyr331Ter
ENST00000696338.1:n.1047T>G (FANCL)
ENST00000696339.1:n.2505T>G (FANCL)
ENST00000696340.1:n.3159T>G (FANCL)
ENST00000696341.1:n.1441T>G (FANCL)
ENST00000696342.1:c.*2163T>G (FANCL) ENSP00000512569.1:n.*2163T>G
ENST00000696343.1:n.2792T>G (FANCL)
ENST00000696344.1:c.*647T>G (FANCL) ENSP00000512570.1:n.*647T>G
ENST00000696358.1:n.3606T>G (FANCL)
ENST00000696359.1:n.3283T>G (FANCL)
ENST00000696360.1:n.1718T>G (FANCL)
ENST00000696361.1:c.*936T>G (FANCL) ENSP00000512579.1:n.*936T>G
ENST00000696362.1:c.*383T>G (FANCL) ENSP00000512580.1:n.*383T>G
ENST00000696363.1:n.2710T>G (FANCL)
ENST00000696364.1:n.1326T>G (FANCL)
ENST00000696371.1:c.924T>G (FANCL) ENSP00000512586.1:p.Tyr308Ter
ENST00000696372.1:n.2022T>G (FANCL)
ENST00000696373.1:c.*2163T>G (FANCL) ENSP00000512587.1:n.*2163T>G
ENST00000696374.1:c.*301T>G (FANCL) ENSP00000512588.1:n.*301T>G
ENST00000696375.1:n.7866T>G (FANCL)
ENST00000696376.1:n.6719T>G (FANCL)
ENST00000696378.1:c.*951T>G (FANCL) ENSP00000512589.1:n.*951T>G
ENST00000696394.1:n.4435T>G (FANCL)
ENST00000696395.1:n.4374T>G (FANCL)
ENST00000696396.1:n.2087T>G (FANCL)
ENST00000696397.1:n.3058T>G (FANCL)
ENST00000696398.1:c.*80T>G (FANCL) ENSP00000512604.1:n.*80T>G
ENST00000696399.1:n.2207T>G (FANCL)
ENST00000696400.1:c.*697T>G (FANCL) ENSP00000512605.1:n.*697T>G
ENST00000696401.1:n.869T>G (FANCL)
ENST00000696409.1:c.*450T>G (FANCL) ENSP00000512610.1:n.*450T>G
ENST00000696410.1:c.*414T>G (FANCL) ENSP00000512611.1:n.*414T>G
ENST00000696411.1:n.638T>G (FANCL)
ENST00000696412.1:n.1432T>G (FANCL)
ENST00000696413.1:n.935T>G (FANCL)
ENST00000696414.1:n.1979T>G (FANCL)
ENST00000696415.1:c.866T>G (FANCL) ENSP00000512612.1:p.Met289Arg
ENST00000696416.1:n.941T>G (FANCL)
ENST00000696432.1:n.3392T>G (FANCL)
ENST00000696433.1:c.361T>G (FANCL) ENSP00000512627.1:p.Cys121Gly
ENST00000696434.1:c.771T>G (FANCL) ENSP00000512628.1:p.Tyr257Ter
ENST00000696435.1:c.*80T>G (FANCL) ENSP00000512629.1:n.*80T>G
ENST00000696436.1:n.887T>G (FANCL)
ENST00000696437.1:n.1350T>G (FANCL)
ENST00000696438.1:c.*766T>G (FANCL) ENSP00000512630.1:n.*766T>G
ENST00000696439.1:n.2982T>G (FANCL)
ENST00000696440.1:n.1969T>G (FANCL)
ENST00000696454.1:c.*284T>G (FANCL) ENSP00000512641.1:n.*284T>G
ENST00000696455.1:c.643T>G (FANCL) ENSP00000512642.1:p.Cys215Gly
ENST00000696456.1:n.443T>G (FANCL)
ENST00000696457.1:c.*1704T>G (FANCL) ENSP00000512643.1:n.*1704T>G
ENST00000696458.1:c.794T>G (FANCL) ENSP00000512644.1:p.Met265Arg
ENST00000696459.1:c.*368T>G (FANCL) ENSP00000512645.1:n.*368T>G
ENST00000696460.1:n.1430T>G (FANCL)
ENST00000696467.1:c.*429T>G (FANCL) ENSP00000512648.1:n.*429T>G
ENST00000696468.1:c.*425T>G (FANCL) ENSP00000512649.1:n.*425T>G
ENST00000696469.1:c.*80T>G (FANCL) ENSP00000512650.1:n.*80T>G
ENST00000696470.1:n.3101T>G (FANCL)
ENST00000696471.1:n.603T>G (FANCL)
ENST00000696472.1:c.820T>G (FANCL) ENSP00000512651.1:p.Cys274Gly
ENST00000696473.1:c.*616T>G (FANCL) ENSP00000512652.1:n.*616T>G
ENST00000696474.1:n.809T>G (FANCL)
ENST00000696475.1:n.2441T>G (FANCL)
ENST00000696492.1:c.*598T>G (FANCL) ENSP00000512662.1:n.*598T>G
ENST00000696493.1:c.*781T>G (FANCL) ENSP00000512663.1:n.*781T>G
ENST00000696494.1:n.965T>G (FANCL)
ENST00000696495.1:c.*679T>G (FANCL) ENSP00000512664.1:n.*679T>G
ENST00000696496.1:n.1472T>G (FANCL)
ENST00000696497.1:n.4230T>G (FANCL)
ENST00000696498.1:n.1692T>G (FANCL)
ENST00000696499.1:c.*370T>G (FANCL) ENSP00000512665.1:n.*370T>G
ENST00000696508.1:c.*488T>G (FANCL) ENSP00000512674.1:n.*488T>G
ENST00000696509.1:c.*810T>G (FANCL) ENSP00000512675.1:n.*810T>G
ENST00000696510.1:c.405T>G (FANCL) ENSP00000512676.1:p.Tyr135Ter
ENST00000696527.1:c.805T>G (FANCL) ENSP00000512690.1:p.Cys269Gly
ENST00000696528.1:c.748T>G (FANCL) ENSP00000512691.1:p.Cys250Gly
ENST00000696529.1:n.796T>G (FANCL)
ENST00000696530.1:c.729T>G (FANCL) ENSP00000512692.1:p.Tyr243Ter
ENST00000696531.1:c.*465T>G (FANCL) ENSP00000512693.1:n.*465T>G
ENST00000696532.1:n.2080T>G (FANCL)
ENST00000696542.1:n.871T>G (FANCL)
ENST00000696543.1:c.628T>G (FANCL) ENSP00000512703.1:p.Cys210Gly
ENST00000696544.1:c.685T>G (FANCL) ENSP00000512704.1:p.Cys229Gly
ENST00000696545.1:c.*601T>G (FANCL) ENSP00000512705.1:n.*601T>G
ENST00000696546.1:c.*712T>G (FANCL) ENSP00000512706.1:n.*712T>G
ENST00000696547.1:c.921T>G (FANCL) ENSP00000512707.1:p.Tyr307Ter
ENST00000696548.1:c.*1137T>G (FANCL) ENSP00000512708.1:n.*1137T>G
ENST00000696564.1:c.850T>G (FANCL) ENSP00000512722.1:p.Cys284Gly
ENST00000696565.1:c.865T>G (FANCL) ENSP00000512723.1:p.Cys289Gly
ENST00000696566.1:n.3521T>G (FANCL)
ENST00000696567.1:c.828T>G (FANCL) ENSP00000512724.1:p.Tyr276Ter
ENST00000696569.1:n.1042T>G (FANCL)
ENST00000696570.1:c.*255T>G (FANCL) ENSP00000512725.1:n.*255T>G
ENST00000696619.1:n.2489T>G (FANCL)
ENST00000696620.1:c.525T>G (FANCL) ENSP00000512759.1:p.Tyr175Ter
ENST00000696621.1:c.*80T>G (FANCL) ENSP00000512760.1:n.*80T>G
ENST00000696622.1:n.2664T>G (FANCL)
ENST00000696623.1:n.899T>G (FANCL)
ENST00000696624.1:c.864T>G (FANCL) ENSP00000512761.1:p.Tyr288Ter
ENST00000696625.1:c.*383T>G (FANCL) ENSP00000512762.1:n.*383T>G
ENST00000696634.1:c.646T>G (FANCL) ENSP00000512770.1:n.646T>G
ENST00000696635.1:c.909T>G (FANCL) ENSP00000512771.1:p.Tyr303Ter
ENST00000696636.1:n.3385T>G (FANCL)
ENST00000696637.1:n.8006T>G (FANCL)
ENST00000696638.1:n.948T>G (FANCL)
ENST00000696639.1:n.3011T>G (FANCL)
XM_005264395.2:c.933T>G (FANCL) XP_005264452.1:p.Tyr311Ter
XM_005264395.4:c.933T>G (FANCL) XP_005264452.1:p.Tyr311Ter
XM_005264397.3:c.582T>G (FANCL) XP_005264454.1:p.Tyr194Ter
XM_005264540.4:c.*1916A>C (VRK2) XP_005264597.1:n.*1916A>C
XM_006712092.4:c.*1916A>C (VRK2) XP_006712155.1:n.*1916A>C
XM_006712093.4:c.*1916A>C (VRK2) XP_006712156.1:n.*1916A>C
XM_011532939.1:c.993T>G (FANCL) XP_011531241.1:p.Tyr331Ter
XM_011532939.3:c.993T>G (FANCL) XP_011531241.1:p.Tyr331Ter
XM_011532940.1:c.978T>G (FANCL) XP_011531242.1:p.Tyr326Ter
XM_011532940.3:c.978T>G (FANCL) XP_011531242.1:p.Tyr326Ter
XM_011532941.1:c.993T>G (FANCL) XP_011531243.1:p.Tyr331Ter
XM_011532941.2:c.993T>G (FANCL) XP_011531243.1:p.Tyr331Ter
XM_011532942.1:c.948T>G (FANCL) XP_011531244.1:p.Tyr316Ter
XM_011532942.3:c.948T>G (FANCL) XP_011531244.1:p.Tyr316Ter
XM_011532943.1:c.1194T>G (FANCL) XP_011531245.1:p.Tyr398Ter
XM_011532944.1:c.642T>G (FANCL) XP_011531246.1:p.Tyr214Ter
XM_011532944.2:c.642T>G (FANCL) XP_011531246.1:p.Tyr214Ter
XM_011532945.1:c.597T>G (FANCL) XP_011531247.1:p.Tyr199Ter
XM_011532945.2:c.597T>G (FANCL) XP_011531247.1:p.Tyr199Ter
XM_011533092.3:c.*1916A>C (VRK2) XP_011531394.1:n.*1916A>C
XM_017004414.2:c.978T>G (FANCL) XP_016859903.1:p.Tyr326Ter
XM_017004416.1:c.582T>G (FANCL) XP_016859905.1:p.Tyr194Ter
XM_017004859.2:c.*1916A>C (VRK2) XP_016860348.1:n.*1916A>C
XM_017004860.2:c.*1916A>C (VRK2) XP_016860349.1:n.*1916A>C
XM_017004861.2:c.*1916A>C (VRK2) XP_016860350.1:n.*1916A>C
XM_017004862.2:c.*1916A>C (VRK2) XP_016860351.1:n.*1916A>C
XM_017004863.2:c.*1916A>C (VRK2) XP_016860352.1:n.*1916A>C
XM_017004864.2:c.*2293A>C (VRK2) XP_016860353.1:n.*2293A>C
XM_017004865.1:c.*2301A>C (VRK2) XP_016860354.1:n.*2301A>C
XM_017004866.1:c.*2301A>C (VRK2) XP_016860355.1:n.*2301A>C
XR_001738802.2:n.879T>G (FANCL)
XR_001738803.2:n.864T>G (FANCL)
XR_002959309.1:n.1575T>G (FANCL)
XR_939692.1:n.932T>G (FANCL)
XR_939692.2:n.924T>G (FANCL)
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