Transcript #00002013 (NM_001100.3, ACTA1 gene)

Transcript name actin, alpha 1, skeletal muscle
Gene name ACTA1 (actin, alpha 1, skeletal muscle)
Chromosome 1
Transcript - NCBI ID NM_001100.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_001091.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

445 entries on 5 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Codon change     
-/. - c.-66C>T r.(?) p.(=) -
-/. - c.-66C>T r.(=) p.(=) -
-/- 1 c.-66_-65delinsTC r.(?) p.(=) -
-/. - c.-65T>C r.(?) p.(=) -
-/. - c.-65T>C r.(=) p.(=) -
?/. - c.-12-61del r.(=) p.(=) -
+/+ _1_7_ c.(?_-12)_(*254_?)del r.0? p.0? -
-/- 3i c.454+30_454+59CCCGCC[3_5] r.(=) p.(=) -
+/+ 2 c.7G>T r.(?) p.(Asp3Tyr) GAC > TAC
+/+ 2 c.16G>A r.(?) p.(Glu6Lys) GAG > AAG
+/+ 2 c.16G>A r.(?) p.(Glu6Lys) GAG > AAG
+/+ 2 c.16G>A r.(?) p.(Glu6Lys) GAG > AAG
+/? 2 c.16G>A r.(?) p.(Glu6Lys) -
+/+ 2 c.16G>A r.(?) p.(Glu6Lys) GAG>AAG
?/? 2 c.24C>A r.(?) p.(=) -
+/+ 2 c.37G>A r.(?) p.(Asp13Asn) GAC > AAC
+/+ 2 c.44G>A r.(?) p.(Gly15Asp) GGC > GAC
+/. - c.44G>A r.(?) p.(Gly15Asp) -
+/+ 2 c.49G>C r.(?) p.(Gly17Arg) GGC > CGC
+/+ 2 c.49G>C r.(?) p.(Gly17Arg) GGC > CGC
+/+ 2 c.49G>C r.(?) p.(Gly17Arg) GGC > CGC
+/+ 2 c.49G>C r.(?) p.(Gly17Arg) GGC > CGC
+/+ 2 c.60A>C r.(?) p.(Lys20Asn) AAA>AAC
+/+ 2 c.79G>A r.(?) p.(Asp27Asn) GAC > AAC
+/+ 2 c.79G>A r.(?) p.(Asp27Asn) GAC > AAC
+/+ 2 c.79G>A r.(?) p.(Asp27Asn) GAC > AAC
+/+ 2 c.79G>A r.(?) p.(Asp27Asn) GAC > AAC
+?/? 2 c.83C>A r.(?) p.(Ala28Asp) GCC>GAC
+?/+? 2 c.89G>A r.(?) p.(Arg30Lys) AGG > AAG
+/+ 2 c.109G>C r.(?) p.(Val37Leu) GTG > CTG
+/+ 2 c.109G>C r.(?) p.(Val37Leu) GTG > CTG
+/+ 2 c.109G>C r.(?) p.(Val37Leu) GTG > CTG
+/+ 2 c.109G>C r.(?) p.(Val37Leu) GTG > CTG
+/+ 2 c.109G>C r.(?) p.(Val37Leu) GTG > CTG
+/+ 2 c.109G>C r.(?) p.(Val37Leu) GTG > CTG
+/+ 2 c.109G>C r.(?) p.(Val37Leu) GTG > CTG
+/+ 2 c.109G>T r.(?) p.(Val37Leu) GTG > TTG
+/+ 2 c.109G>T r.(?) p.(Val37Leu) GTG > TTG
+/+ 2 c.110T>C r.(?) p.(Val37Ala) GTG > GCG
+/+ 2 c.112G>A r.(?) p.(Gly38Ser) GGC > AGC
+/+ 2 c.113G>C r.(?) p.(Gly38Ala) GGC > GCC
?/. - c.113G>C r.(?) p.(Gly38Ala) -
+/+ 2 c.119C>T r.(?) p.(Pro40Leu) CCC > CTC
+/+ 2 c.119C>T r.(?) p.(Pro40Leu) CCC > CTC
+/+ 2 c.119C>T r.(?) p.(Pro40Leu) CCC > CTC
+/+ 2 c.121C>T r.(?) p.(Arg41*) CGA > TGA
+?/+? 2 c.122G>A r.(?) p.(Arg41Gln) CGA > CAA
+?/. - c.122G>T r.(?) p.(Arg41Leu) -
+/+ 2 c.124C>T r.(?) p.(His42Tyr) CAC > TAC
+/+ 2 c.124C>T r.(?) p.(His42Tyr) CAC > TAC
+/+ 2 c.124C>T r.(?) p.(His42Tyr) CAC > TAC
+/+ 2 c.124C>T r.(?) p.(His42Tyr) CAC > TAC
+/+ 2 c.128A>G r.(?) p.(Gln43Arg) CAG > CGG
+/+ 2 c.128A>G r.(?) p.(Gln43Arg) CAG > CGG
+/+ 2 c.128A>G r.(?) p.(Gln43Arg) CAG > CGG
?/? 2i c.129+31C>A r.(?) p.(=) -
-/? 2i c.130-10G>C r.(?) p.(=) -
-/. - c.130-10G>C r.(=) p.(=) -
-/. - c.130-10G>C r.(=) p.(=) -
-/. - c.130-10G>C r.(=) p.(=) -
-/- 2i c.130-10G>C r.(?) p.(?) -
-/. - c.130-5T>C r.spl? p.? -
-/? 2i c.130-5T>C r.(spl?) p.(=) -
-/. - c.130-5T>C r.spl? p.(=) -
-/. - c.130-5T>C r.spl? p.? -
-/- 2i c.130-5T>C r.(?) p.(?) -
+/+ 3 c.131G>T r.(?) p.(Gly44Val) GGC > GTC
+/+ 3 c.133G>T r.(?) p.(Val45Phe) GTC > TTC
+/. - c.133G>T r.(?) p.(Val45Phe) -
+?/+? 3 c.133G>T r.(?) p.(Val45Phe) -
+/+ 3 c.137T>C r.(?) p.(Met46Thr) ATG > ACG
?/+? 3 c.142G>A r.(?) p.(Gly48Ser) GGT > AGT
+/+ 3 c.142G>C r.(?) p.(Gly48Arg) GGT > CGT
+/+ 3 c.142G>T r.(?) p.(Gly48Cys) GGT > TGT
+/+ 3 c.143G>A r.(?) p.(Gly48Asp) GGT > GAT
+/+ 3 c.143G>A r.(?) p.(Gly48Asp) GGT>GAT
+/+? 3 c.143G>C r.(?) p.(Gly48Ala) GGT >GCT
+/+ 3 c.145A>G r.(?) p.(Met49Val) ATG > GTG
+/? 3 c.145A>G r.(?) p.(Met49Val) ATG > GTG
+/+ 3 c.148G>A r.(?) p.(Gly50Ser) GGT>AGT
+/+? 3 c.148G>T r.(?) p.(Gly50Cys) GGT >TGT
+/+ 3 c.149G>A r.(?) p.(Gly50Asp) GGT>GAT
+/+ 3 c.169G>C r.(?) p.(Gly57Arg) GGC > CGC
+/+ 3 c.169G>C r.(?) p.(Gly57Arg) GGC > CGC
+?/+? 3 c.172G>A r.(?) p.(Asp58Asn) GAC > AAC
+?/+? 3 c.175G>A r.(?) p.Glu59Lys GAG > AAG
+/+ 3 c.197T>A r.(?) p.(Ile66Asn) ATC > AAC
+/+ 3 c.197T>G r.(?) p.(Ile66Ser) ATC > AGC
+/+ 3 c.203C>A r.(?) p.(Thr68Asn) ACC > AAC
+/+ 3 c.203C>T r.(?) p.(Thr68Ile) ACC > ATC
+/+? 3 c.203C>T r.(?) p.(Thr68Ile) ACC > ATC
+/+ 3 c.209A>G r.(?) p.(Lys70Arg) AAG > AGG
+/+ 3 c.209A>G r.(?) p.(Lys70Arg) AAG > AGG
?/? 3 c.210G>A r.210g>a p.= AAG > AAA
+?/+? 3 c.215C>G r.(?) p.(Pro72Arg) CCT > CGT
+/+ 3 c.215C>G r.(?) p.(Pro72Arg) CCT > CGT
+/+ 3 c.215C>G r.(?) p.(Pro72Arg) CCT>CGT
+/+ 3 c.217A>G r.(?) p.(Ile73Val) ATC > GTC
+/+ 3 c.217A>T r.(?) p.(Ile73Phe) ATC > TTC
+/. - c.220G>A r.(?) p.(Glu74Lys) -
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