Transcript #00020178

Transcript name transcript variant 2
Gene name L1CAM (L1 cell adhesion molecule)
Chromosome X
Transcript - NCBI ID NM_024003.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_076493.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

43 entries on 1 page. Showing entries 1 - 43.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-4925G>C r.(=) p.(=)
./. - c.-4917A>G r.(=) p.(=)
./. - c.-4823C>T r.(=) p.(=)
./. - c.28C>T r.(?) p.(Pro10Ser)
./. - c.76+190G>C r.(=) p.(=)
./. - c.76+194C>A r.(=) p.(=)
./. - c.76+225G>A r.(=) p.(=)
./. - c.77-132C>A r.(=) p.(=)
./. - c.92-21C>T r.(=) p.(=)
./. - c.197+17G>A r.(=) p.(=)
./. - c.197+47C>T r.(=) p.(=)
./. - c.400+45G>A r.(=) p.(=)
./. - c.400+55G>A r.(=) p.(=)
./. - c.649A>C r.(=) p.(=)
./. - c.720G>A r.(=) p.(=)
./. - c.807-61G>C r.(=) p.(=)
./. - c.855C>T r.(=) p.(=)
./. - c.992-59G>A r.(=) p.(=)
./. - c.992-40G>A r.(=) p.(=)
./. - c.992-32C>T r.(=) p.(=)
./. - c.1002C>T r.(=) p.(=)
./. - c.1050C>T r.(=) p.(=)
./. - c.1123+40C>T r.(=) p.(=)
./. - c.1268-10C>T r.(=) p.(=)
./. - c.1670G>C r.(?) p.(Gly557Ala)
./. - c.1704-18_1704-15del r.(=) p.(=)
./. - c.1704-14C>T r.(=) p.(=)
./. - c.1774G>A r.(?) p.(Val592Met)
./. - c.1939+98C>T r.(=) p.(=)
./. - c.2091C>T r.(=) p.(=)
./. - c.2209-6C>T r.(=) p.(=)
./. - c.2307C>T r.(=) p.(=)
./. - c.2498_2499insACCTCGCGCTCCACGCGCTCGCGGATCTCGCCGAGCAACGCGGTCCATGGCA r.(?) p.(Trp833*)
./. - c.2548-37C>A r.(=) p.(=)
./. - c.2872C>G r.(?) p.(Leu958Val)
./. - c.3047-27T>C r.(=) p.(=)
./. - c.3238C>T r.(=) p.(=)
./. - c.3440A>G r.(?) p.(Lys1147Arg)
./. - c.3457+15C>T r.(=) p.(=)
./. - c.3457+53C>T r.(=) p.(=)
./. - c.3458-34C>T r.(=) p.(=)
./. - c.3458-33G>A r.(=) p.(=)
./. - c.3678T>C r.(=) p.(=)
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