Transcript #00024006

Transcript name transcript variant 1
Gene name AHI1 (Abelson helper integration site 1)
Chromosome 6
Transcript - NCBI ID NM_001134831.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001128303.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

167 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-378G>T r.(?) p.(=)
-?/. - c.-54-6C>T r.(=) p.(=)
?/. - c.-30C>A r.(?) p.(=)
-/. - c.72T>C r.(?) p.(Ser24=)
+/. - c.96dup r.(?) p.(Leu33ThrfsTer9)
+/. - c.96dup r.(?) p.(Leu33ThrfsTer9)
-?/. - c.108A>G r.(?) p.(Lys36=)
-?/. - c.189+12T>C r.(=) p.(=)
-?/. - c.190-9T>C r.(=) p.(=)
?/. - c.190C>A r.(?) p.(Pro64Thr)
-/. - c.198T>C r.(?) p.(Thr66=)
-?/. - c.202A>G r.(?) p.(Arg68Gly)
-/. - c.517G>A r.(?) p.(Ala173Thr)
-/. - c.517G>A r.(?) p.(Ala173Thr)
?/. - c.553G>T r.(?) p.(Asp185Tyr)
-?/. - c.653A>G r.(?) p.(Tyr218Cys)
-?/. - c.708A>G r.(?) p.(Lys236=)
-/. - c.724C>T r.(?) p.(Pro242Ser)
-/. - c.724C>T r.(?) p.(Pro242Ser)
-?/. - c.804A>C r.(?) p.(Ser268=)
?/. - c.868G>A r.(?) p.(Glu290Lys)
-/. - c.901C>A r.(?) p.(Pro301Thr)
+?/. 8 c.911_912dup r.(?) p.(Lys305Glnfs*23)
+?/. 8 c.911_912dup r.(?) p.(Lys305Glnfs*23)
-/. - c.932-13dup r.(=) p.(=)
+?/. 9 c.985C>T r.(?) p.(Arg329*)
-?/. - c.986G>T r.(?) p.(Arg329Leu)
?/. 9 c.989A>G r.(?) p.(Asp330Gly)
?/. - c.989A>G r.(?) p.(Asp330Gly)
-?/. - c.990T>C r.(?) p.(Asp330=)
-?/. - c.990T>C r.(?) p.(Asp330=)
+/. - c.1051C>T r.(?) p.(Arg351Ter)
+/. - c.1052G>T r.(?) p.(Arg351Leu)
?/. - c.1093A>C r.(?) p.(Met365Leu)
?/. - c.1145A>G r.(?) p.(Asp382Gly)
-/. - c.1152-7dup r.(=) p.(=)
+?/. 10 c.1303C>T r.(?) p.(Arg435*)
-?/. - c.1304G>A r.(?) p.(Arg435Gln)
+/. 10 c.1328T>A r.(?) p.(Val443Asp)
+/. 10 c.1328T>A r.(?) p.(Val443Asp)
-/. - c.1344+17_1344+54del r.(=) p.(=)
-?/. - c.1405T>C r.(?) p.(Cys469Arg)
?/. - c.1546G>A r.(?) p.(Glu516Lys)
?/. - c.1594G>A r.(?) p.(Val532Ile)
-/. - c.1627-92T>A r.(=) p.(=)
-/. - c.1627-9C>G r.(=) p.(=)
-/. - c.1643G>A r.(?) p.(Arg548His)
-?/. - c.1643G>A r.(?) p.(Arg548His)
-?/. - c.1643G>A r.(?) p.(Arg548His)
-/. - c.1680A>G r.(?) p.(Pro560=)
-/. - c.1686T>C r.(?) p.(His562=)
?/. - c.1694G>A r.(?) p.(Arg565His)
-?/. - c.1694G>A r.(?) p.(Arg565His)
-?/. - c.1725A>G r.(?) p.(Glu575=)
-/. - c.1780-14C>T r.(=) p.(=)
-/. - c.1780-14C>T r.(=) p.(=)
-/. - c.1780-14C>T r.(=) p.(=)
-?/. - c.1788T>C r.(?) p.(Arg596=)
-/. - c.1791C>T r.(?) p.(Ile597=)
-/. - c.1791C>T r.(?) p.(Ile597=)
?/. - c.1799A>G r.(?) p.(Lys600Arg)
?/. - c.1829G>A r.(?) p.(Arg610Gln)
+/. 15 c.1983del r.(?) p.(Trp662Glyfs*24)
-/. - c.2036+96G>A r.(=) p.(=)
-/. - c.2037-109G>A r.(=) p.(=)
+?/. 16 c.2057_2060del r.(?) p.(Asn686Ilefs*23)
+?/. - c.2168G>A r.(?) p.(Arg723Gln)
+/. - c.2174G>A r.(?) p.(Trp725Ter)
+/. - c.2174G>A r.(?) p.(Trp725Ter)
+/. - c.2174G>A r.(?) p.(Trp725Ter)
+/. - c.2174G>A r.(?) p.(Trp725Ter)
+/. 16 c.2174G>A r.(?) p.(Trp725*)
+/. 16 c.2174G>A r.(?) p.(Trp725*)
+/. 15 c.2212C>T r.(?) p.(Arg738*)
+/. - c.2212C>T r.(?) p.(Arg738*)
-/. - c.2223T>C r.(?) p.(Asp741=)
-/. - c.2223T>C r.(?) p.(Asp741=)
+?/. 16 c.2248_2249insA r.(?) p.(Leu750Hisfs*4)
+?/. - c.2258A>T r.(?) p.(Asp753Val)
+?/. 16 c.2258A>T r.(?) p.(Asp753Val)
?/. - c.2266G>T r.(?) p.(Gly756Cys)
-/. - c.2266+9G>A r.(=) p.(=)
-/. - c.2266+152A>G r.(=) p.(=)
-?/. - c.2294C>T r.(?) p.(Thr765Ile)
-?/. - c.2350G>T r.(?) p.(Val784Leu)
-?/. - c.2373+18A>G r.(=) p.(=)
-/. - c.2374-7A>G r.(=) p.(=)
?/. - c.2441G>A r.(?) p.(Arg814His)
-?/. - c.2488C>T r.(?) p.(Arg830Trp)
?/. 18 c.2488C>T r.(?) p.(Arg830Trp)
?/. 18 c.2488C>T r.(?) p.(Arg830Trp)
?/. 18 c.2488C>T r.(?) p.(Arg830Trp)
?/. 18 c.2488C>T r.(?) p.(Arg830Trp)
?/. 18 c.2488C>T r.(?) p.(Arg830Trp)
-/. - c.2488C>T r.(?) p.(Arg830Trp)
-/. - c.2488C>T r.(?) p.(Arg830Trp)
?/. - c.2488C>T r.(?) p.(Arg830Trp)
-?/. - c.2488C>T r.(?) p.(Arg830Trp)
-/. - c.2488C>T r.(?) p.(Arg830Trp)
+/. 19 c.2495del r.(?) p.(Leu832*)
Legend   « First ‹ Prev     1 2     Next › Last »