Transcript #00023895 (NM_015915.4, ATL1 gene)

Transcript name transcript variant 1
Gene name ATL1 (atlastin GTPase 1)
Chromosome 14
Transcript - NCBI ID NM_015915.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_056999.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

775 entries on 8 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-11C>T r.(?) p.(=)
+/. 2 c.35-3C>T r.35_282del p.Gly12fs
+/. 2 c.35-3C>T r.35_282del p.Gly12fs
+/. 2 c.35-3C>T r.35_282del p.Gly12fs
+/. 2 c.35-3C>T r.spl p.?
-?/. 2 c.84A>G r.(?) p.(=)
-?/. 2 c.84A>G r.(?) p.(=)
-/. - c.84A>G r.(?) p.(Pro28=)
-/. - c.84A>G r.(?) p.(Pro28=)
?/. - c.196G>C r.(?) p.(Glu66Gln)
+/. - c.196G>C r.(?) p.(Glu66Gln)
+/. 2 c.196G>C r.(?) p.(Glu66Gln)
+/. 2 c.196G>C r.(?) p.(Glu66Gln)
-?/. - c.322A>G r.(?) p.(Thr108Ala)
-?/. - c.322A>G r.(?) p.(Thr108Ala)
-/. - c.351G>A r.(?) p.(Glu117=)
-?/. 3 c.351G>A r.(?) p.(=)
-?/. 3 c.351G>A r.(?) p.(=)
-?/. 3 c.351G>A r.(?) p.(=)
-?/. 3 c.351G>A r.(?) p.(=)
-?/. 3 c.351G>A r.(?) p.(=)
-?/. 3 c.351G>A r.(?) p.(=)
-?/. 3 c.351G>A r.(?) p.(=)
-?/. 3 c.351G>A r.(?) p.(=)
-/. - c.351G>A r.(?) p.(Glu117=)
-/. - c.351G>A r.(?) p.(Glu117=)
+/. 3 c.353G>A r.(?) p.(Arg118Gln)
+/. 3 c.353G>A r.(?) p.(Arg118Gln)
+/. 3 c.353G>A r.(?) p.(Arg118Gln)
+/. 3 c.353G>A r.(?) p.(Arg118Gln)
+/. 3 c.353G>A r.(?) p.(Arg118Gln)
+?/? 3 c.353G>A r.(?) p.(Arg118Gln)
-/. - c.417+3A>G r.spl? p.?
-/. - c.418-19G>T r.(=) p.(=)
-/. - c.418-19G>T r.(=) p.(=)
-/. - c.418-19G>T r.(=) p.(=)
+/. 4 c.(417+1_418-1)_(522+1_523-1)del r.? p.?
?/. - c.439A>T r.(?) p.(Thr147Ser)
-?/. - c.450C>A r.(?) p.(Thr150=)
+/. 4 c.452T>C r.(?) p.(Phe151Ser)
+/. 4 c.452T>C r.(?) p.(Phe151Ser)
+/. 4 c.452T>C r.(?) p.(Phe151Ser)
+/. 4 c.452T>C r.(?) p.(Phe151Ser)
+/. 4 c.452T>C r.(?) p.(Phe151Ser)
+/. 4 c.452T>C r.(?) p.(Phe151Ser)
+/. 4 c.452T>C r.(?) p.(Phe151Ser)
+/. 4 c.452T>C r.(?) p.(Phe151Ser)
+/. 4 c.452T>C r.(?) p.(Phe151Ser)
+/. 4 c.452T>C r.(?) p.(Phe151Ser)
+/. 4 c.452T>C r.(?) p.(Phe151Ser)
+/. 4 c.452T>C r.(?) p.(Phe151Ser)
+/. 4 c.452T>C r.(?) p.(Phe151Ser)
+/. 4 c.452T>C r.(?) p.(Phe151Ser)
+/. 4 c.458G>C r.(?) p.(Ser153Thr)
+/. 4 c.458G>C r.(?) p.(Ser153Thr)
+/. 4 c.458G>C r.(?) p.(Ser153Thr)
+/. 4 c.458G>C r.(?) p.(Ser153Thr)
+/. 4 c.460C>G r.(?) p.(Gln154Glu)
+/. 4 c.460C>G r.(?) p.(Gln154Glu)
+/. 4 c.467C>T r.(?) p.(Thr156Ile)
+/. 4 c.467C>T r.(?) p.(Thr156Ile)
+/. 4 c.467C>T r.(?) p.(Thr156Ile)
+/. 4 c.467C>T r.(?) p.(Thr156Ile)
+/. 4 c.467C>T r.(?) p.(Thr156Ile)
+/. 4 c.467C>T r.(?) p.(Thr156Ile)
+/. 4 c.470T>G r.(?) p.(Leu157Trp)
+/. 4 c.470T>G r.(?) p.(Leu157Trp)
+/. 4 c.470T>G r.(?) p.(Leu157Trp)
+/. 4 c.473G>C r.(?) p.(Arg158Thr)
+/. 4 c.473G>C r.(?) p.(Arg158Thr)
+/. 4 c.481G>C r.(?) p.(Ala161Pro)
+/. 4 c.481G>C r.(?) p.(Ala161Pro)
+/. 4 c.481G>C r.(?) p.(Ala161Pro)
+/. 4 c.481G>C r.(?) p.(Ala161Pro)
+/. 4 c.481G>C r.(?) p.(Ala161Pro)
+/. 4 c.481G>C r.(?) p.(Ala161Pro)
+/. 4 c.481G>C r.(?) p.(Ala161Pro)
+/. 4 c.481G>C r.(?) p.(Ala161Pro)
+/. 4 c.481G>C r.(?) p.(Ala161Pro)
+/. 4 c.481G>C r.(?) p.(Ala161Pro)
+/. 4 c.481G>C r.(?) p.(Ala161Pro)
+/. 4 c.481G>C r.(?) p.(Ala161Pro)
+/. 4 c.481G>C r.(?) p.(Ala161Pro)
+/. 4 c.481G>C r.(?) p.(Ala161Pro)
+/. 4 c.484A>C r.(?) p.(Thr162Pro)
+?/. - c.488T>C r.(?) p.(Val163Ala)
+/. 4 c.488T>C r.(?) p.(Val163Ala)
+/. 4 c.488T>C r.(?) p.(Val163Ala)
+/. 4 c.488T>C r.(?) p.(Val163Ala)
+?/. - c.488T>C r.(?) p.(Val163Ala)
+/. 4 c.493G>A r.(?) p.(Ala165Thr)
+/. 4 c.493G>A r.(?) p.(Ala165Thr)
+/. - c.493G>T r.(?) p.(Ala165Ser)
?/. - c.508A>G r.(?) p.(Ile170Val)
?/. - c.508A>G r.(?) p.(Ile170Val)
+/. 5 c.565C>G r.(?) p.(His189Asp)
+/. 5 c.565C>G r.(?) p.(His189Asp)
+/. 5 c.565C>G r.(?) p.(His189Asp)
+/. 5 c.565C>G r.(?) p.(His189Asp)
+/. 5 c.565C>G r.(?) p.(His189Asp)
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