Transcript #00000006 (NM_000050.4, ASS1 gene)

Transcript name argininosuccinate synthase 1, transcript variant 1
Gene name ASS1 (argininosuccinate synthase 1)
Chromosome 9
Transcript - NCBI ID NM_000050.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000041.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

230 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-6+8C>T r.(=) p.(=)
-/. - c.-5-13C>T r.(=) p.(=)
+/. 2i c.-5-4C>T r.spl? p.?
+/. 10i_12i c.(c.688+1_689-1)_(838+1_839-1)del r.689_838del p.?
+/. 3 c.40G>A r.(?) p.(Gly14Ser)
+/. 3 c.53C>T r.(?) p.(Ser18Leu)
+/. 3 c.55T>C r.(?) p.(Cys19Arg)
-/. - c.99C>T r.(?) p.(Ala33=)
-/. - c.106-10T>G r.(=) p.(=)
+/. 4 c.119A>T r.(?) p.(Gln40Leu)
-?/. - c.132C>T r.(?) p.(Phe44=)
+/. 4i c.174+1G>T r.spl p.?
+/. 4i_5i c.(174+1_175-1)_(363+1_364-1)del r.del p.del
+/. 5 c.206T>C r.(?) p.(Val69Ala)
+/. 5 c.206T>C r.(?) p.(Val69Ala)
+/. 5 c.235T>C r.(?) p.(Ser79Pro)
+/. 5 c.256C>T r.(?) p.(Arg86Cys)
+/. 5 c.256C>T r.(?) p.(Arg86Cys)
+/. 5 c.257G>A r.(?) p.(Arg86His)
+/. 5 c.257G>A r.(?) p.(Arg86His)
-?/. - c.282C>T r.(?) p.(Ala94=)
+/. 5 c.285G>T r.(?) p.(Arg95Ser)
+/. 5 c.286C>T r.(?) p.(Pro96Ser)
+/. 5 c.287C>A r.(?) p.(Pro96His)
+/. 5 c.299del r.(?) p.(Arg100Profs*40)
-?/. - c.323G>T r.(?) p.(Arg108Leu)
+/. 5 c.323G>T r.(?) p.(Arg108Leu)
+/. 5 c.323G>T r.(?) p.(Arg108Leu)
-/. - c.323G>T r.(?) p.(Arg108Leu)
?/. - c.323G>T r.(?) p.(Arg108Leu)
-?/. - c.333C>T r.(?) p.(Ala111=)
+/. 5 c.349G>A r.(?) p.(Gly117Ser)
+/. 5 c.349G>A r.(?) p.(Gly117Ser)
+/. 5 c.349G>A r.(?) p.(Gly117Ser)
+/. 5 c.349G>A r.(?) p.(Gly117Ser)
+/. 5 c.350G>A r.(?) p.(Gly117Asp)
+/. 5 c.350G>A r.(?) p.(Gly117Asp)
-/. 4 c.351C>T r.(?) p.(=)
+/. 5 c.352G>A r.(?) p.(Ala118Thr)
+/. 5 c.352G>A r.(?) p.(Ala118Thr)
+/. 5 c.352G>A r.(?) p.(Ala118Thr)
?/. - c.352G>A r.(?) p.(Ala118Thr)
+/. 5 c.352G>A r.352g>a p.Ala118Thr
+/. 5 c.356C>T r.(?) p.(Thr119Ile)
?/. - c.364-6T>C r.(=) p.(=)
-?/. - c.364-6T>C r.(=) p.(=)
+/. 5i_6i c.(363+1_364-1)_(420+1_421-1)del r.del p.del
+/. 6 c.370G>A r.(?) p.(Asp124Asn)
+/. 6 c.379C>T r.(?) p.(Arg127Trp)
+/. 6 c.379C>T r.(?) p.(Arg127Trp)
+/. 6 c.380G>A r.(?) p.(Arg127Gln)
+/. 6 c.380G>A r.(?) p.(Arg127Gln)
+/. - c.380G>A r.(?) p.(Arg127Gln)
-/. - c.421-19C>T r.(=) p.(=)
+/. 6i c.421-2A>G r.421_495del p.Val141_Lys165del
+/. - c.421-2A>G r.spl? p.?
+/. 6i c.421-2A>G r.spl p.?
+/. 6i c.421-2A>G r.421_495del p.del
+/. 6i c.421-2A>G r.421_495del p.del
+/. 6i c.421-2A>G r.421_495del p.del
+/. 6i c.421-2A>G r.spl p.?
+/. 6i c.421-2A>G r.spl p.?
+/. 6i c.421-2A>G r.421_495del p.Val141_Lys165del
+/. 6i c.421-2A>G r.421_495del p.Val141_Lys165del
+/. 6i c.421-2A>G r.421_495del p.Val141_Lys165del
+?/. - c.437G>A r.(?) p.(Arg146Lys)
+/. 7 c.450_451del r.(?) p.(Phe150Leufs*9)
+/. 7 c.460_467del r.(?) p.(Phe154Profs*3)
+/. 7 c.469C>T r.(?) p.(Arg157Cys)
+/. 7 c.469C>T r.(?) p.(Arg157Cys)
?/. - c.470G>A r.(?) p.(Arg157His)
+/. 7 c.470G>A r.(?) p.(Arg157His)
+/. 7 c.479T>C r.(?) p.(Leu160Pro)
+/. 7i c.495+1G>T r.421_495del p.Val141_Lys165del
?/. - c.496-1766_597+732delinsGC r.496_597delinsGC p.?
+/. 7i_8 c.496-21_515del r.spl p.del
+/. 7i_8 c.496-21_515del r.spl p.del
-/. - c.501C>T r.(?) p.(His167=)
-/. 8 c.501C>T r.(?) p.(=)
-/. 8 c.501C>T r.(?) p.(=)
+/. 8 c.535T>C r.(?) p.(Trp179Arg)
+/. 8 c.535T>C r.(?) p.(Trp179Arg)
+/. 8 c.535T>C r.(?) p.(Trp179Arg)
+/. 8 c.535T>C r.(?) p.(Trp179Arg)
+/. 8 c.535T>C r.(?) p.(Trp179Arg)
+/. 8 c.535T>C r.(?) p.(Trp179Arg)
+/. 8 c.535T>C r.(?) p.(Trp179Arg)
+/. 8 c.535T>C r.(?) p.(Trp179Arg)
+/. 8 c.535T>C r.(?) p.(Trp179Arg)
+/. 8 c.535T>C r.(?) p.(Trp179Arg)
+/. 8 c.539G>A r.(?) p.(Ser180Asn)
-/. 8 c.561C>T r.(?) p.(=)
-/. 8 c.564C>T r.(?) p.(=)
-/. 8 c.564C>T r.(?) p.(=)
-?/. - c.567-4G>A r.spl? p.?
+/. 8 c.568T>G r.(?) p.(Tyr190Asp)
+/. - c.571G>A r.(?) p.(Glu191Lys)
+/. 9 c.571G>A r.(?) p.(Glu191Lys)
+/. 9 c.571G>A r.(?) p.(Glu191Lys)
+/. 9 c.571G>C r.(?) p.(Glu191Gln)
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