Transcript #00000720 (NM_001101.3, ACTB gene)

Transcript name actin, beta
Gene name ACTB (actin, beta)
Chromosome 7
Transcript - NCBI ID NM_001101.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_001092.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-6-4G>T r.spl? p.?
+/. - c.34A>C r.(?) p.(Asn12His)
+/. 2 c.34A>G r.(?) p.(Asn12Asp)
-?/. - c.93C>T r.(?) p.(Phe31=)
?/. - c.94C>T r.(?) p.(Pro32Ser)
-?/. - c.123+8dup r.(=) p.(=)
-?/. - c.124-7T>A r.(=) p.(=)
+/. - c.176A>G r.(?) p.(Gln59Arg)
+/. 3 c.193C>G r.(?) p.(Leu65Val)
+/. - c.193C>T r.(?) p.(Leu65Phe)
-?/. - c.199C>T r.(?) p.(Leu67=)
+?/. - c.209C>T r.(?) p.(Pro70Leu)
+/. - c.209C>T r.(?) p.(Pro70Leu)
?/. - c.215_226del r.(?) p.(Glu72_Ile75del)
+?/. - c.217C>G r.(?) p.(His73Asp)
+/. - c.217C>G r.(?) p.(His73Asp)
+/. - c.220G>A r.(?) p.(Gly74Ser)
+/. - c.220G>A r.(?) p.(Gly74Ser)
+/. - c.224T>C r.(?) p.(Ile75Thr)
?/. - c.269_271del r.(?) p.(Phe90del)
-?/. - c.270C>T r.(?) p.(Phe90=)
+?/. - c.272A>C r.(?) p.(Tyr91Ser)
-?/. - c.280C>T r.(?) p.(Leu94=)
+/. - c.307G>C r.(?) p.(Val103Leu)
-?/. - c.310C>T r.(?) p.(Leu104=)
+?/. - c.311T>G r.(?) p.(Leu104Arg)
-?/. - c.324C>T r.(?) p.(Ala108=)
-?/. - c.345C>T r.(?) p.(Asn115=)
+/. ? c.349G>A r.(?) p.(Glu117Lys)
+/. - c.351G>T r.(?) p.(Glu117Asp)
+/. - c.356T>C r.(?) p.(Met119Thr)
+/. - c.359C>T r.(?) p.(Thr120Ile)
+/. - c.359C>T r.(?) p.(Thr120Ile)
-/. - c.363+16C>T r.(=) p.(=)
?/. - c.364-143T>C r.(=) p.(=)
?/. - c.364-143T>C r.(=) p.(=)
-/. - c.364-16T>C r.(=) p.(=)
?/. - c.364-16T>C r.(=) p.(=)
-/. - c.364-16T>C r.(=) p.(=)
-/. - c.364-16T>C r.(=) p.(=)
?/. - c.418C>G r.(?) p.(Leu140Val)
-?/. - c.426G>T r.(?) p.(Leu142=)
-/. - c.426G>T r.(?) p.(Leu142=)
-?/. - c.426G>T r.(?) p.(Leu142=)
?/. - c.430G>A r.(?) p.(Ala144Thr)
+/. - c.446C>T r.(?) p.(Thr149Ile)
-?/. - c.447T>C r.(?) p.(Thr149=)
-?/. - c.465C>T r.(?) p.(Ser155=)
+?/. - c.484A>G r.(?) p.(Thr162Ala)
+?/. - c.521C>T r.(?) p.(Ala174Val)
+?/. - c.537C>G r.(?) p.(Asp179Glu)
+/? 4 c.547C>T r.(?) p.(Arg183Trp)
+/. - c.547C>T r.(?) p.(Arg183Trp)
+/. - c.547C>T r.(?) p.(Arg183Trp)
+/. - c.547C>T r.(?) p.(Arg183Trp)
?/. 4 c.547C>T r.(?) p.(Arg183Trp)
+?/. - c.583G>A r.(?) p.(Glu195Lys)
+/. 4 c.586C>T r.(?) p.(Arg196Cys)
+/. - c.586C>T r.(?) p.(Arg196Cys)
+/. - c.586C>T r.(?) p.(Arg196Cys)
+/. - c.586C>T r.(?) p.(Arg196Cys)
+/. - c.586C>T r.(?) p.(Arg196Cys)
+/. - c.586C>T r.(?) p.(Arg196Cys)
+/. 4 c.587G>A r.(?) p.(Arg196His)
+/. 4 c.587G>A r.(?) p.(Arg196His)
+?/. - c.587G>A r.(?) p.(Arg196His)
+/. 4 c.587G>A r.(?) p.(Arg196His)
+/. 4 c.587G>A r.(?) p.(Arg196His)
+/. 4 c.587G>A r.(?) p.(Arg196His)
+/. 4 c.587G>A r.(?) p.(Arg196His)
+/. 4 c.587G>A r.(?) p.(Arg196His)
+/. - c.587G>A r.(?) p.(Arg196His)
?/. 4 c.587G>A r.(?) p.(Arg196His)
+?/. - c.589G>A r.(?) p.(Gly197Ser)
?/. - c.589G>A r.(?) p.(Gly197Ser)
+/. - c.611C>G r.(?) p.(Ala204Gly)
+/. - c.625G>A r.(?) p.(Val209Met)
+/. - c.625G>A r.(?) p.(Val209Met)
-?/. - c.646C>T r.(?) p.(Leu216=)
+?/. - c.752G>A r.(?) p.(Gly251Asp)
?/. - c.761G>A r.(?) p.(Arg254Gln)
?/. - c.770G>T r.(?) p.(Cys257Phe)
?/. - c.791C>G r.(?) p.(Pro264Arg)
?/. - c.859G>A r.(?) p.(Val287Met)
+?/. 5 c.890_891del r.(?) p.(Thr297Serfs*37)
+?/. 5 c.905G>C r.(?) p.(Gly302Ala)
+?/. - c.930_*52del r.(?) p.(?)
+?/. - c.931G>A r.(?) p.(Asp311Asn)
+?/. - c.931_957del r.(?) p.(Asp311_Ala319del)
-/. - c.942G>A r.(?) p.(Gln314=)
-/. - c.942G>A r.(?) p.(Gln314=)
-/. - c.942G>A r.(?) p.(Gln314=)
-/. - c.951C>T r.(?) p.(Ile317=)
+?/. - c.965C>G r.(?) p.(Pro322Arg)
?/. - c.984+39G>A r.(=) p.(=)
-?/. - c.985-6C>T r.(=) p.(=)
?/. - c.994C>T r.(?) p.(Pro332Ser)
+?/. - c.1021A>C r.(?) p.(Ile341Leu)
-?/. - c.1023C>T r.(?) p.(Ile341=)
+?/. - c.1027G>A r.(?) p.(Gly343Ser)
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