Transcript #00001834 (NM_001605.2, AARS gene)

Transcript name alanyl-tRNA synthetase
Gene name AARS (alanyl-tRNA synthetase)
Chromosome 16
Transcript - NCBI ID NM_001605.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001596.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

109 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-14G>A r.(?) p.(=)
-/. - c.64G>A r.(?) p.(Glu22Lys)
?/. - c.97C>G r.(?) p.(Pro33Ala)
-?/. - c.100T>C r.(?) p.(Leu34=)
-?/. - c.126C>T r.(?) p.(Ala42=)
+/. 3 c.211A>T r.(?) p.(Asn71Tyr)
+?/. - c.212A>G r.(?) p.(Asn71Ser)
?/. - c.299T>C r.(?) p.(Met100Thr)
?/. - c.497T>G r.(?) p.(Ile166Ser)
-?/. - c.600C>T r.(?) p.(Ala200=)
-/. - c.671+3A>G r.spl? p.?
-?/. - c.700C>T r.(?) p.(Pro234Ser)
?/. - c.700C>T r.(?) p.(Pro234Ser)
?/. - c.700C>T r.(?) p.(Pro234Ser)
?/. - c.700C>T r.(?) p.(Pro234Ser)
?/. - c.700C>T r.(?) p.(Pro234Ser)
?/. - c.736C>T r.(?) p.(Arg246Ter)
?/. - c.736C>T r.(?) p.(Arg246Ter)
-/. - c.824G>A r.(?) p.(Gly275Asp)
+?/. - c.893T>A r.(?) p.(Leu298Gln)
-/. - c.903C>T r.(=) p.(=)
-/. - c.903C>T r.(?) p.(His301=)
-/. - c.903C>T r.(?) p.(His301=)
-?/. - c.904G>A r.(?) p.(Ala302Thr)
-?/. - c.904G>A r.(?) p.(Ala302Thr)
?/. - c.962+165C>A r.(=) p.(=)
+?/. - c.986G>A r.(?) p.(Arg329His)
+/. - c.986G>A r.(?) p.(Arg329His)
+/. - c.986G>A r.(?) p.(Arg329His)
+/. - c.986G>A r.(?) p.(Arg329His)
+/. - c.986G>A r.(?) p.(Arg329His)
+/. 8 c.986G>A r.(?) p.(Arg329His)
+/. - c.986G>A r.(?) p.(Arg329His)
+/. - c.986G>A r.(?) p.(Arg329His)
+?/. - c.986G>A r.(?) p.Arg329His
?/. - c.988C>T r.(?) p.(Arg330Ter)
-?/. - c.1002C>T r.(?) p.(Tyr334=)
?/. - c.1019A>G r.(?) p.(Asn340Ser)
+?/. - c.1019A>G r.(?) p.(Asn340Ser)
?/. - c.1019A>G r.(?) p.(Asn340Ser)
-?/. - c.1028G>C r.(?) p.(Arg343Thr)
?/. - c.1093A>G r.(?) p.(Lys365Glu)
?/. - c.1102C>T r.(?) p.(Pro368Ser)
?/. - c.1102C>T r.(?) p.(Pro368Ser)
?/. - c.1156C>G r.(?) p.(Leu386Val)
?/. - c.1223-34dup r.(=) p.(=)
-/. - c.1332G>A r.(?) p.(Glu444=)
-?/. - c.1332G>A r.(?) p.(Glu444=)
-/. - c.1332G>A r.(?) p.(Glu444=)
-/. - c.1347+21A>G r.(=) p.(=)
-/. - c.1404C>T r.(=) p.(=)
-/. - c.1404C>T r.(?) p.(Tyr468=)
?/. - c.1417C>T r.(?) p.(Leu473Phe)
-?/. - c.1428G>C r.(?) p.(Arg476=)
./. - c.1532G>A r.(?) p.(Arg511Lys)
-?/. - c.1632C>T r.(?) p.(Asp544=)
?/. - c.1645G>A r.(?) p.(Val549Met)
+?/. - c.1647G>A r.(?) p.(=)
?/. - c.1672-125_1672-124insTG r.(=) p.(=)
-?/. - c.1672-4T>A r.spl? p.?
-?/. - c.1672-4T>A r.spl? p.?
-/. - c.1685C>T r.(?) p.(Thr562Ile)
-?/. - c.1685C>T r.(?) p.(Thr562Ile)
-?/. - c.1685C>T r.(?) p.(Thr562Ile)
-?/. - c.1685C>T r.(?) p.(Thr562Ile)
+?/. - c.1685G>A - -
-?/. - c.1737C>T r.(?) p.(Ile579=)
-?/. - c.1737C>T r.(?) p.(Ile579=)
-?/. - c.1737C>T r.(?) p.(Ile579=)
?/. - c.1786-26T>C r.(=) p.(=)
?/. - c.1811A>C r.(?) p.(Asn604Thr)
?/. - c.1811A>G r.(?) p.(Asn604Ser)
-?/. - c.1839C>T r.(?) p.(Phe613=)
-?/. - c.1878C>T r.(?) p.(Gly626=)
?/. - c.1907T>G r.(?) p.(Phe636Cys)
+?/. - c.2063A>G r.(?) p.(Glu688Gly)
-?/. - c.2185C>T r.(?) p.(Arg729Trp)
-?/. - c.2185C>T r.(?) p.(Arg729Trp)
-?/. - c.2185C>T r.(?) p.(Arg729Trp)
?/. - c.2197C>T r.(?) p.(His733Tyr)
-?/. - c.2217C>T r.(?) p.(Ile739=)
?/. - c.2248C>T r.(?) p.(Arg750Trp)
+?/. - c.2251A>G r.(?) p.(Arg751Gly)
+?/. - c.2251A>G r.(?) p.(Arg751Gly)
-/. 17 c.2333A>C r.(?) p.(Glu778Ala)
-?/. - c.2364C>G r.(?) p.(Asn788Lys)
+?/. - c.2459A>G r.(?) p.(Lys820Arg)
-?/. - c.2459A>G r.(?) p.(Lys820Arg)
-?/. - c.2459A>G r.(?) p.(Lys820Arg)
-?/. - c.2521-3C>T r.spl? p.?
-?/. - c.2521-3C>T r.spl? p.?
-?/. - c.2521-3C>T r.spl? p.?
?/. - c.2521G>A r.(?) p.(Val841Met)
-?/. - c.2580G>A r.(?) p.(Leu860=)
-?/. - c.2681A>G r.(?) p.(Asn894Ser)
-/. - c.2715T>C r.(?) p.(Val905=)
-/. - c.2715T>C r.(?) p.(Val905=)
-/. - c.2715T>C r.(=) p.(=)
-/. - c.2715T>C r.(=) p.(=)
-?/. - c.2716C>G r.(?) p.(Pro906Ala)
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