Transcript #00025924 (NM_001378454.1, ALMS1 gene)

Transcript name transcript variant 2 (removed from reference sequence)
Gene name ALMS1 (Alstrom syndrome 1)
Chromosome 2
Transcript - NCBI ID NM_001378454.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001365383.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks MANE select
Date created 2024-05-17 17:19:54 +02:00 (CEST)
Date last edited N/A


Variants

283 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/. - c.(?_11668+196)_*313{0} r.? p.?
+/. - c.643eC>T r.(?) p.(Arg2145Ter)
+?/. - c.54_55insTAG r.(?) p.(Glu19Ter)
-?/. - c.57_74dup r.(?) p.(Glu23_Glu28dup)
?/. - c.57_74dup r.(?) p.(Glu23_Glu28dup)
?/. - c.75_77dup r.(?) p.(Glu28dup)
-?/. - c.103_105dup r.(?) p.(Ala35dup)
-?/. - c.246G>A r.(?) p.(Ala82=)
+/. - c.296C>A r.(?) p.(Ser99Ter)
-?/. - c.302G>A r.(?) p.(Gly101Asp)
-?/. 1 c.323A>G r.(?) p.(Lys108Arg)
+/. - c.324+4066_10384+3639delinsCACTT r.? p.?
?/. - c.451-5T>G r.? p.?
+?/. - c.547del r.(?) p.(Glu183LysfsTer2)
?/. - c.568C>A r.(?) p.(Leu190Met)
-?/. - c.611A>C r.(?) p.(Glu204Ala)
-?/. - c.650T>C r.(?) p.(Ile217Thr)
-?/. - c.668C>A r.(?) p.(Ser223Tyr)
-?/. - c.717G>A r.(?) p.(Ala239=)
-?/. - c.718C>T r.(?) p.(Pro240Ser)
?/. - c.719C>A r.(?) p.(Pro240His)
?/. - c.738A>C r.(?) p.(Gln246His)
+?/. - c.764G>A r.(?) p.(Arg255Lys)
+/. - c.797G>A r.(?) p.(Trp266Ter)
+?/. - c.805C>T r.(?) p.(Arg269Ter)
+/. 5 c.805C>T r.(?) p.(Arg269Ter)
+/. 5 c.805C>T r.(?) p.(Arg269Ter)
+/. - c.805C>T r.(?) p.(Arg269Ter)
+/. - c.805C>T r.(?) p.(Arg269Ter)
+?/. 5 c.805C>T r.(?) p.(Arg269Ter)
+?/. - c.833_834del r.(?) p.(Phe278SerfsTer16)
+?/. - c.846dup r.(?) p.(Glu283ArgfsTer12)
-?/. - c.901A>C r.(?) p.(Ile301Leu)
+?/. - c.964G>T r.(?) p.(Glu322Ter)
+?/. - c.964G>T r.(?) p.(Glu322Ter)
+?/. - c.1043G>A r.(?) p.(Trp348Ter)
+?/. - c.1051C>T r.(?) p.(Arg351Ter)
+?/. - c.1144C>T r.(?) p.(His382Tyr)
+/. - c.1196_1202del r.(?) p.(Thr399LysfsTer11)
+/. - c.1196_1202del r.(?) p.(Thr399LysfsTer11)
-?/. - c.1338+19A>G r.(=) p.(=)
-?/. - c.1353G>A r.(?) p.(Ser451=)
?/. - c.1433-2A>G r.spl? p.?
+?/. - c.1529T>A r.(?) p.(Leu510Ter)
+?/. - c.1625T>A r.(?) p.(Leu542Ter)
+?/. - c.1671del r.(?) p.(Pro558LeufsTer37)
+/. - c.1727C>G r.(?) p.(Ser576Ter)
+/. - c.1727C>G r.(?) p.(Ser576Ter)
+?/. - c.1732del r.(?) p.(Arg578GlyfsTer17)
-?/. - c.1871A>G r.(?) p.(His624Arg)
+?/. - c.1894dup r.(?) p.(Tyr632LeufsTer9)
-?/. - c.1899A>G r.(?) p.(Gln633=)
+/. - c.2036A>G r.(?) p.(Tyr679Cys)
?/. - c.2038C>G r.(?) p.(Arg680Gly)
+?/. - c.2067del r.(?) p.(Asp690IlefsTer4)
+?/. - c.2087C>A r.(?) p.(Ser696Ter)
+?/. - c.2087C>A r.(?) p.(Ser696Ter)
+?/. - c.2087C>A r.(?) p.(Ser696Ter)
-?/. - c.2122A>G r.(?) p.(Thr708Ala)
+/. - c.2212del r.(?) p.(Glu738ArgfsTer41)
+/. - c.2294C>G r.(?) p.(Ser765*)
+/. - c.2296C>T r.(?) p.(Gln766Ter)
+?/. - c.2308_2309del r.(?) p.(Pro770Ter)
+?/. - c.2314_2315del r.(?) p.(Ile772PhefsTer13)
?/. - c.2416G>C r.(?) p.(Val806Leu)
?/. - c.2416G>C r.(?) p.(Val806Leu)
?/. - c.2416G>C r.(?) p.(Val806Leu)
+/. 8 c.2533G>T r.(?) p.(Gly846Ter)
+/. - c.2643dup r.(?) p.(Glu882*)
+?/. - c.2663C>G r.(?) p.(Ser888Ter)
+?/. - c.2726C>G r.(?) p.(Ser909Ter)
+?/. - c.2758C>T r.(?) p.(Gln920Ter)
?/. - c.2775dup r.(?) p.(Leu926Serfs*4)
+/. 8 c.2819T>A r.(?) p.(Leu940Ter)
?/. - c.2819T>A r.(?) p.(Leu940Ter)
+/. - c.2954_2955insCTGGACTGCTATT r.(?) p.(Gly986TrpfsTer8)
+?/. - c.2955_2956insCTATTCTGGACTG r.(?) p.(Gly986LeufsTer8)
+/. - c.2991_2992del r.(?) p.(Val998ThrfsTer8)
+/. 8 c.2999C>G r.(?) p.(Ser1000Ter)
+/. - c.3056dup r.(?) p.(Asp1019GlufsTer2)
+?/. - c.3184C>T r.(?) p.(Gln1062Ter)
-?/. - c.3255G>T r.(?) p.(Gln1085His)
-?/. - c.3305A>C r.(?) p.(Lys1102Thr)
+/. 8 c.3343del r.(?) p.(His1115IlefsTer7)
?/. - c.3596G>A r.(?) p.(Gly1199Asp)
+/. - c.3656C>G r.(?) p.(Ser1219Ter)
+/. - c.3895C>T r.(?) p.(Gln1299*)
+?/. - c.3899C>A r.(?) p.(Ser1300Ter)
+/. - c.3899C>A r.(?) p.(Ser1300Ter)
+?/. 8 c.3899C>A r.(?) p.(Ser1300Ter)
+/. - c.3899C>A r.(?) p.(Ser1300Ter)
+/. 8 c.3922G>T r.(?) p.(Glu1308Ter)
-/. - c.3936T>C r.(?) p.(Asn1312=)
?/. - c.3977T>C r.(?) p.(Ile1326Thr)
+?/. - c.4147dup r.(?) p.(Gln1383ProfsTer17)
+/. 8 c.4153dup r.(?) p.(Thr1385AsnfsTer15)
-?/. - c.4204A>G r.(?) p.(Thr1402Ala)
?/. - c.4244G>A r.(?) p.(Gly1415Asp)
+/. - c.4249del r.(?) p.(Arg1417GlyfsTer55)
-?/. - c.4291C>A r.(?) p.(His1431Asn)
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