Transcript #00001287

Transcript name ATPase, H+ transporting, lysosomal accessory protein 1
Gene name ATP6AP1 (ATPase, H+ transporting, lysosomal accessory protein 1)
Chromosome X
Transcript - NCBI ID NM_001183.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_001174.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

66 entries on 1 page. Showing entries 1 - 66.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.39G>A r.(=) p.(=)
?/? c.43C>T r.(?) p.(Arg15*)
?/? c.45A>G r.(=) p.(=)
?/? c.96_98del r.(?) p.(Ala41del)
?/? c.98_99insGGCGGC r.(?) p.(Ala40_Ala41dup)
?/? c.161+19_161+20insCCC r.(=) p.(=)
?/? c.162-47G>C r.(=) p.(=)
?/? c.162-36C>T r.(=) p.(=)
?/? c.162-8C>T r.(=) p.(=)
?/? c.165C>G r.(?) p.(Asp55Glu)
?/? c.179C>G r.(?) p.(Ala60Gly)
?/? c.226A>G r.(?) p.(Thr76Ala)
?/? c.240C>T r.(=) p.(=)
?/? c.241G>A r.(?) p.(Ala81Thr)
?/? c.288+28C>G r.(=) p.(=)
?/? c.289-44C>G r.(=) p.(=)
?/? c.289-41del r.(=) p.(=)
?/? c.289-16C>A r.(=) p.(=)
?/? c.293G>A r.(?) p.(Ser98Asn)
?/? c.361G>C r.(?) p.(Glu121Gln)
?/? c.363+10C>T r.(=) p.(=)
?/? c.364-4C>T r.spl? p.?
?/? c.407T>C r.(?) p.(Val136Ala)
?/? c.468C>T r.(=) p.(=)
?/? c.482T>C r.(?) p.(Leu161Pro)
?/? c.509A>G r.(?) p.(Asn170Ser)
?/? c.539G>A r.(?) p.(Arg180His)
?/? c.548A>G r.(?) p.(Tyr183Cys)
?/? c.549C>T r.(=) p.(=)
?/? c.558-36G>A r.(=) p.(=)
?/? c.558-19_558-18del r.(=) p.(=)
?/? c.598+23C>G r.(=) p.(=)
?/? c.598+80C>T r.(=) p.(=)
?/? c.609C>T r.(=) p.(=)
?/? c.669G>A r.(=) p.(=)
?/? c.684+32G>A r.(=) p.(=)
?/? c.685-41C>T r.(=) p.(=)
?/? c.701C>A r.(?) p.(Ala234Asp)
?/? c.702C>T r.(=) p.(=)
?/? c.744G>A r.(=) p.(=)
?/? c.789C>T r.(=) p.(=)
?/? c.804G>A r.(=) p.(=)
?/? c.831G>A r.(=) p.(=)
?/? c.888C>G r.(?) p.(Asn296Lys)
?/? c.919G>T r.(?) p.(Ala307Ser)
?/? c.924-27A>G r.(=) p.(=)
?/? c.924-22G>A r.(=) p.(=)
?/? c.927C>T r.(=) p.(=)
?/? c.972-14G>A r.(=) p.(=)
?/? c.988C>T r.(?) p.(Arg330Cys)
?/? c.1011G>A r.(=) p.(=)
?/? c.1025T>C r.(?) p.(Met342Thr)
?/? c.1134C>T r.(=) p.(=)
?/? c.1162A>C r.(?) p.(Thr388Pro)
?/? c.1203+13C>T r.(=) p.(=)
?/? c.1203+24T>C r.(=) p.(=)
?/? c.1203+31G>T r.(=) p.(=)
?/? c.1204-35C>T r.(=) p.(=)
?/? c.1204-20C>T r.(=) p.(=)
?/? c.1204-19G>A r.(=) p.(=)
?/? c.1204-15C>T r.(=) p.(=)
?/? c.1242C>T r.(=) p.(=)
?/? c.1261T>C r.(?) p.(Phe421Leu)
?/? c.1273G>A r.(?) p.(Gly425Ser)
?/? c.*12_*13insG r.(=) p.(=)
?/? c.*12_*13insGG r.(=) p.(=)
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