Transcript #00002982 (NM_000048.3, ASL gene)

Transcript name transcript variant 2
Gene name ASL (argininosuccinate lyase)
Chromosome 7
Transcript - NCBI ID NM_000048.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000039.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. 1_17 c.? r.(?) p.?
+/. - c.35G>A r.(?) p.(Arg12Gln)
+/. - c.35G>A r.(?) p.(Arg12Gln)
+/. 3 c.35G>A r.35g>a p.Arg12Gln
?/. - c.37T>C r.(?) p.(Phe13Leu)
?/. - c.130G>A r.(?) p.(Ala44Thr)
+/. 3 c.175G>A r.175g>a p.Glu59Lys
+/. 3 c.175G>A r.175g>a p.Glu59Lys
+/. 4 c.257A>C r.257a>c p.Glu86Ala
+/. 4 c.260A>G r.260a>g p.Asp87Gly
+/. 4 c.260A>G r.260a>g p.Asp87Gly
+/. 4 c.260A>G r.260a>g p.Asp87Gly
+/. 4 c.260A>G r.260a>g p.Asp87Gly
?/. 4 c.283C>T r.(?) p.(Arg95Cys)
+/. 4 c.283C>T r.283c>u p.Arg95Cys
+/. 4 c.283C>T r.283c>u p.Arg95Cys
+/. 5 c.292del r.[292_348del, 29del] p.[del19, fs*]
+/. 5 c.299T>C r.299del p.Ile100Thr
-?/. - c.309G>A r.(?) p.(Thr103=)
+/. 5 c.331C>T r.331c>u p.Arg111Trp
+/. 5 c.331C>T r.331c>u p.Arg111Trp
+/. 5 c.337C>T r.337c>u p.Arg113Trp
+/. - c.346C>T r.(?) p.(Gln116*)
+/. 5 c.346C>T r.292_348del p.[Gln116*, del]
+/. 5 c.346C>T r.292_348del p.[Gln116*, del]
+/. 5 c.346C>T r.292_348del p.[Gln116*, del]
+/. 5 c.346C>T r.292_348del p.[Gln116*, del]
+/. 5 c.346C>T r.292_348del p.[Gln116*, del]
+/. 5 c.346C>T r.292_348del p.[Gln116*, del]
+/. 6 c.392C>T r.392c>u p.Thr131Met
?/. - c.436C>T r.(?) p.(Arg146Trp)
+/. - c.446+1G>A r.spl? p.?
+/. - c.446+1G>A r.spl? p.?
+/. 6i c.446+1G>A r.349_446del p.del21
+/. 6i c.446+1G>A r.349_446del p.del21
+/. 6i c.446+1G>A r.349_446del p.del21
+/. 6i c.446+1G>A r.349_446del p.del21
+/. 6i c.446+1G>A r.349_446del p.del21
+/. 6i c.446+1G>A r.349_446del p.del21
+/. 6i c.446+1G>A r.349_446del p.del21
+/. 6i c.446+1G>A r.349_446del p.del21
+/. 6i c.446+1G>A r.349_446del p.del21
+/. 6i c.446+1G>A r.349_446del p.del21
+/. 6i c.446+1G>A r.349_446del p.del21
+/. 6i c.446+1G>A r.349_446del p.del21
+/. 6i c.446+1G>A r.349_446del p.del21
+/. 6i c.446+1G>A r.349_446del p.del21
+/. 6i c.446+1G>A r.349_446del p.del21
+/. - c.446+1G>A r.spl? p.?
+/. - c.446+1G>A r.spl? p.?
+/. - c.447-1G>A r.spl? p.?
+/. 7 c.461T>C r.461u>c p.Leu154Pro
+/. 7 c.476C>A r.476c>a p.Thr159Asn
?/. - c.502C>T r.(?) p.(Arg168Cys)
+/. - c.532G>A r.(?) p.(Val178Met)
+/. - c.532G>A r.(?) p.(Val178Met)
?/. 8 c.532G>A r.(?) p.(Val178Met)
+/. 8 c.532G>A r.532g>a p.Val178Met
+/. 8 c.532G>A r.532g>a p.Val178Met
+/. 8 c.532G>A r.532g>a p.Val178Met
+/. 8 c.532G>A r.532g>a p.Val178Met
+/. 8 c.532G>A r.532g>a p.Val178Met
+/. 8 c.532G>A r.532g>a p.Val178Met
+/. 8 c.532G>A r.532g>a p.Val178Met
+/. - c.532G>A r.(?) p.(Val178Met)
+?/. - c.532G>A r.(?) p.(Val178Met)
+/. 8 c.545G>A r.545g>a p.Arg182Gln
-/. 8 c.556C>A r.(?) p.(=)
-/. - c.556C>A r.(?) p.(Arg186=)
+/. 8 c.575_580dup r.575_580dup p.ins2
+/. 8 c.578G>A r.(?) p.Arg193Gln
+/. 8 c.578G>A r.578g>a p.Arg193Gln
-/. - c.602+13C>T r.(=) p.(=)
-/. 8i c.602+13C>T r.(?) p.(=)
-/. 8i c.602+13C>T r.(?) p.(=)
?/. - c.688A>G r.(?) p.(Met230Val)
+/. 10i c.718+5G>A r.656_718del p.del19
+/. 10i c.718+5G>A r.656_718del p.del19
-/. - c.718+14A>T r.(=) p.(=)
-/. 10i c.718+14A>T r.(?) p.(=)
-?/. - c.718+14A>T r.(=) p.(=)
+/. - c.721G>A r.(?) p.(Glu241Lys)
+/. 11 c.762C>A r.(?) p.Ser254Arg
-?/. - c.837G>C r.(?) p.(Thr279=)
+/. - c.857A>G r.(?) p.(Gln286Arg)
?/. 12 c.857A>G r.(?) p.(Gln286Arg)
+/. 12 c.857A>G r.857a>g p.Gln286Arg
+/. 12 c.857A>G r.(?) p.(Gln286Arg)
+/. 12 c.857A>G r.(?) p.(Gln286Arg)
+/. 12 c.857A>G r.857a>g p.Gln286Arg
+/. 12 c.857A>G r.857a>g p.Gln286Arg
+/. 12 c.857A>G r.857a>g p.Gln286Arg
+/. 12 c.857A>G r.857a>g p.Gln286Arg
+/. 12 c.857A>G r.857a>g p.Gln286Arg
+/. 12 c.889C>T r.889c>u p.Arg297Trp
-/. 13 c.921T>C r.921u>c p.=
-/. 13 c.921T>C r.921u>c p.=
+/. 13 c.925G>A r.925g>a p.Gly309Arg
+/. 13 c.925G>A r.925g>a p.Gly309Arg
-/. 13i c.978+30C>T r.(?) p.(=)
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