Transcript #00003005 (NM_015338.5, ASXL1 gene)

Transcript name transcript variant 1
Gene name ASXL1 (additional sex combs like 1 (Drosophila))
Chromosome 20
Transcript - NCBI ID NM_015338.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_056153.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.24G>T r.(?) p.(Lys8Asn)
-/. - c.57+19G>A r.(=) p.(=)
-/. - c.140+26A>G r.(=) p.(=)
?/. - c.236G>A r.(?) p.(Ser79Asn)
-?/. - c.252+11T>C r.(=) p.(=)
?/. - c.314C>T r.(?) p.(Thr105Met)
-?/. - c.374-9C>T r.(=) p.(=)
-/. - c.374-9C>T r.(=) p.(=)
-/. - c.374-9C>T r.(=) p.(=)
-?/. - c.450C>T r.(?) p.(Asp150=)
-/. - c.472-22T>C r.(=) p.(=)
?/. - c.472-2A>G r.spl? p.?
-/. - c.540C>T r.(?) p.(Asn180=)
-?/. - c.572C>T r.(?) p.(Ser191Leu)
-/. - c.582C>T r.(?) p.(His194=)
?/. - c.764C>T r.(?) p.(Pro255Leu)
?/. - c.883-2A>G r.spl? p.?
?/. - c.947C>T r.(?) p.(Ala316Val)
+/. - c.1117C>T r.(?) p.(Gln373*)
+?/. - c.1129C>T r.(?) p.(Gln377*)
+/. - c.1175C>A r.(?) p.(Ser392Ter)
+/. - c.1210C>T r.(?) p.(Arg404Ter)
+/. 12 c.1210C>T r.(?) p.(Arg404*)
+/. 12 c.1210C>T r.(?) p.(Arg404*)
+/. - c.1283_1284del r.(?) p.(Gln428ArgfsTer9)
-?/. - c.1429G>C r.(?) p.(Glu477Gln)
+/. - c.1544_1545del r.(?) p.(Val515Glyfs*13)
+/. - c.1762C>T r.(?) p.(Gln588Ter)
?/. - c.1859G>A r.(?) p.(Arg620His)
-?/. - c.1907C>T r.(?) p.(Ala636Val)
-?/. - c.1907C>T r.(?) p.(Ala636Val)
-?/. - c.1927G>T r.(?) p.(Gly643Trp)
-?/. - c.1934dup r.(?) p.(Gly646TrpfsTer12)
-/. - c.1954G>A r.(?) p.(Gly652Ser)
-?/. - c.1954G>A r.(?) p.(Gly652Ser)
-?/. - c.1965C>T r.(?) p.(Thr655=)
+/. - c.1981A>T r.(?) p.(Arg661Ter)
-?/. - c.2064G>A r.(?) p.(Thr688=)
-?/. - c.2110G>A r.(?) p.(Gly704Arg)
-?/. - c.2127C>T r.(?) p.(Ala709=)
+/. 13 c.2197C>T r.(?) p.(Gln733*)
-?/. - c.2250C>T r.(?) p.(Pro750=)
+/. - c.2317G>T r.(?) p.(Glu773Ter)
+/. - c.2324T>G r.(?) p.(Leu775Ter)
+/. 13 c.2332C>T r.(?) p.(Gln778*)
-?/. - c.2337T>G r.(?) p.(Pro779=)
+/. - c.2372_2373del r.(?) p.(Ser791TrpfsTer8)
-/. - c.2395G>T r.(?) p.(Asp799Tyr)
-/. - c.2444= r.(=) p.(Pro815=)
-/. - c.2444= r.(=) p.(Pro815=)
+/. 13 c.2468T>G r.(?) p.(Leu823*)
-/. - c.2513A>G r.(?) p.(Lys838Arg)
-?/. - c.2526T>C r.(?) p.(Asn842=)
+/. 13 c.2535dup r.(?) p.(Ser846Glnfs*5)
-?/. - c.2544A>T r.(?) p.(Thr848=)
-?/. - c.2618C>T r.(?) p.(Pro873Leu)
+/. 13 c.2773C>T r.(?) p.(Gln925*)
+/. - c.2893C>T r.(?) p.(Arg965Ter)
-?/. - c.2957A>G r.(?) p.(Asn986Ser)
-/. - c.2985C>T r.(?) p.(His995=)
-/. - c.2985C>T r.(?) p.(His995=)
+/. 13 c.3083C>A r.(?) p.(Ser1028*)
+/. - c.3201_3202del r.(?) p.(Arg1068SerfsTer18)
+?/. - c.3202C>T r.(?) p.(Arg1068Ter)
-?/. - c.3274G>A r.(?) p.(Val1092Met)
-?/. - c.3306G>T r.(?) p.(Glu1102Asp)
-/. - c.3306G>T r.(?) p.(Glu1102Asp)
-/. - c.3306G>T r.(?) p.(Glu1102Asp)
-?/. - c.3384C>T r.(?) p.(Asp1128=)
-?/. - c.3449G>T r.(?) p.(Gly1150Val)
-?/. - c.3482T>C r.(?) p.(Met1161Thr)
-/. - c.3498C>G r.(?) p.(Ser1166Arg)
-/. - c.3513G>A r.(?) p.(Arg1171=)
-/. - c.3513G>A r.(?) p.(Arg1171=)
-?/. - c.3519G>A r.(?) p.(Leu1173=)
-/. - c.3519G>A r.(?) p.(Leu1173=)
+/. - c.3596_3606del r.(?) p.(Ala1199GlufsTer9)
+?/. - c.3635C>T r.(?) p.(Ser1212Phe)
-?/. - c.3642T>G r.(?) p.(His1214Gln)
+/. - c.3642_3645del r.(?) p.(His1214Glnfs*2)
?/. - c.3664T>G r.(?) p.(Ser1222Ala)
-/. - c.3692C>T r.(?) p.(Ser1231Phe)
?/. - c.3692C>T r.(?) p.(Ser1231Phe)
-?/. - c.3745A>G r.(?) p.(Met1249Val)
-?/. - c.3745A>G r.(?) p.(Met1249Val)
-/. - c.3759T>C r.(?) p.(Ser1253=)
-/. - c.3759T>C r.(?) p.(Ser1253=)
-/. - c.3759T>C r.(?) p.(Ser1253=)
+?/. 12 c.3856C>T r.(?) p.(Gln1286*)
?/. - c.3869C>T r.(?) p.(Ala1290Val)
-?/. - c.3910C>G r.(?) p.(Leu1304Val)
-?/. - c.3935C>T r.(?) p.(Ala1312Val)
-?/. - c.3939C>T r.(?) p.(Thr1313=)
?/. - c.3947_3948delinsTT r.(?) p.(Arg1316Leu)
?/. - c.3949C>A r.(?) p.(Pro1317Thr)
-/. - c.3973C>T r.(?) p.(Leu1325Phe)
-/. - c.3973C>T r.(?) p.(Leu1325Phe)
+?/. - c.4060G>T r.(?) p.(Glu1354Ter)
-?/. - c.4174C>T r.(?) p.(Pro1392Ser)
-?/. - c.4183C>G r.(?) p.(Leu1395Val)
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