Transcript #00001834

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

82 entries on 1 page. Showing entries 1 - 82.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.-14G>A likely benign r.(?) p.(=)
-/. - c.64G>A benign r.(?) p.(Glu22Lys)
?/. - c.97C>G VUS r.(?) p.(Pro33Ala)
-?/. - c.100T>C likely benign r.(?) p.(=)
+/. 3 c.211A>T - r.(?) p.(Asn71Tyr)
+?/. - c.212A>G likely pathogenic r.(?) p.(Asn71Ser)
?/. - c.299T>C VUS r.(?) p.(Met100Thr)
?/. - c.497T>G VUS r.(?) p.(Ile166Ser)
-?/. - c.600C>T likely benign r.(?) p.(=)
-/. - c.671+3A>G benign r.spl? p.?
-?/. - c.671+3A>G likely benign r.spl? p.?
-?/. - c.700C>T likely benign r.(?) p.(Pro234Ser)
?/. - c.700C>T VUS r.(?) p.(Pro234Ser)
?/. - c.736C>T VUS r.(?) p.(Arg246*)
?/. - c.736C>T VUS r.(?) p.(Arg246*)
-/. - c.824G>A benign r.(?) p.(Gly275Asp)
-?/. - c.824G>A likely benign r.(?) p.(Gly275Asp)
-/. - c.903C>T - r.(=) p.(=)
-/. - c.903C>T benign r.(?) p.(=)
-/. - c.903C>T benign r.(?) p.(=)
-?/. - c.904G>A likely benign r.(?) p.(Ala302Thr)
-?/. - c.904G>A likely benign r.(?) p.(Ala302Thr)
?/. - c.962+165C>A - r.(=) p.(=)
+/. 8 c.986G>A - r.(?) p.(Arg329His)
+/. - c.986G>A pathogenic r.(?) p.(Arg329His)
+?/. - c.986G>A - r.(?) p.Arg329His
?/. - c.988C>T VUS r.(?) p.(Arg330*)
?/. - c.1019A>G VUS r.(?) p.(Asn340Ser)
?/. - c.1019A>G VUS r.(?) p.(Asn340Ser)
?/. - c.1093A>G VUS r.(?) p.(Lys365Glu)
?/. - c.1102C>T VUS r.(?) p.(Pro368Ser)
?/. - c.1156C>G VUS r.(?) p.(Leu386Val)
?/. - c.1223-34dup - r.(=) p.(=)
-/. - c.1332G>A benign r.(?) p.(=)
-?/. - c.1332G>A likely benign r.(?) p.(=)
-/. - c.1332G>A benign r.(?) p.(=)
-/. - c.1347+21A>G benign r.(=) p.(=)
-/. - c.1404C>T - r.(=) p.(=)
-/. - c.1404C>T benign r.(?) p.(=)
?/. - c.1417C>T VUS r.(?) p.(Leu473Phe)
./. - c.1532G>A - r.(?) p.(Arg511Lys)
-?/. - c.1632C>T likely benign r.(?) p.(=)
?/. - c.1645G>A VUS r.(?) p.(Val549Met)
?/. - c.1672-125_1672-124insTG - r.(=) p.(=)
-/. - c.1685C>T benign r.(?) p.(Thr562Ile)
-?/. - c.1685C>T likely benign r.(?) p.(Thr562Ile)
-?/. - c.1685C>T likely benign r.(?) p.(Thr562Ile)
+?/. - c.1685G>A - - -
-?/. - c.1737C>T likely benign r.(?) p.(=)
-?/. - c.1737C>T likely benign r.(?) p.(=)
?/. - c.1786-26T>C - r.(=) p.(=)
?/. - c.1811A>C VUS r.(?) p.(Asn604Thr)
-?/. - c.1878C>T likely benign r.(?) p.(=)
-?/. - c.2185C>T likely benign r.(?) p.(Arg729Trp)
-?/. - c.2185C>T likely benign r.(?) p.(Arg729Trp)
-?/. - c.2217C>T likely benign r.(?) p.(=)
+?/. - c.2251A>G likely pathogenic r.(?) p.(Arg751Gly)
-/. 17 c.2333A>C - r.(?) p.(Glu778Ala)
-?/. - c.2364C>G likely benign r.(?) p.(Asn788Lys)
+?/. - c.2459A>G likely pathogenic r.(?) p.(Lys820Arg)
-?/. - c.2459A>G likely benign r.(?) p.(Lys820Arg)
-?/. - c.2521-3C>T likely benign r.spl? p.?
-?/. - c.2521-3C>T likely benign r.spl? p.?
-?/. - c.2521-3C>T likely benign r.spl? p.?
?/. - c.2521G>A VUS r.(?) p.(Val841Met)
-?/. - c.2580G>A likely benign r.(?) p.(=)
-?/. - c.2681A>G likely benign r.(?) p.(Asn894Ser)
-/. - c.2715T>C benign r.(?) p.(=)
-/. - c.2715T>C benign r.(?) p.(=)
-/. - c.2715T>C - r.(=) p.(=)
-/. - c.2715T>C - r.(=) p.(=)
-?/. - c.2716C>G likely benign r.(?) p.(Pro906Ala)
-?/. - c.2791G>A likely benign r.(?) p.(Gly931Ser)
-?/. - c.2791G>A likely benign r.(?) p.(Gly931Ser)
-?/. - c.2791G>A likely benign r.(?) p.(Gly931Ser)
-/. - c.2900A>T benign r.(?) p.(Lys967Met)
-?/. - c.2900A>T likely benign r.(?) p.(Lys967Met)
-?/. - c.2900A>T likely benign r.(?) p.(Lys967Met)
-/. - c.*74A>T - r.(=) p.(=)
-?/. - c.*848G>T likely benign r.(=) p.(=)
?/. - c.*1224G>A VUS r.(=) p.(=)
?/. - c.*1224G>C VUS r.(=) p.(=)
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