Transcript #00025251 (NM_000478.4, ALPL gene)

Transcript name transcript variant 1
Gene name ALPL (alkaline phosphatase, liver/bone/kidney)
Chromosome 1
Transcript - NCBI ID NM_000478.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000469.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

1199 entries on 12 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     
+?/. - c.(1309+1_1310-1)_*764{0} r.? p.? -
+/. 9i c.997+2T r.spl p.? -
./. - c.-1295374_*986269del r.0? p.0? -
+/. 1 c.-195C>T r.(?) p.(=) -
+/. 1 c.-195C>T r.(?) p.(=) -
+?/. _1i_2i c.(-105+1_-104-1)_(61+1_62-1)del r.? p.0? -
+/. 1i_2i c.(-105+1_-104-1)_(61+1_62-1)del r.? p.0? -
+/. - c.(-105+1_-104-1)_(61+1_62-1)del r.? p.0? -
+/. 1i_6i c.(-105+1_-104-1)_(648+1_649-1)del r.? p.? -
-?/. - c.-104-90_-104-899insAAAAA r.(=) p.(=) -
-?/. - - r.(=) p.(=) -
-?/. - - r.(=) p.(=) -
?/. 1i c.(-105+1_-104-1)del(3000) r.? p.? -
+?/. 11i_12_ c.(1309+1_1310-1)_*764{0} r.? p.? 36 U/L parent
+?/. 3i c.(181+1_182-1)del(?) r.? p.? -
+/. 5 c.(298_472)delins(?) r.? p.? -
+?/. _2_6i c.(?_-104-1)_(648+1_649-1del r.? p.? -
+/. _1_1i c.-257_(-105+1_-104-1){0} r.0? p.0? -
+/. _1_2i c.-257_(61+1_62-1){0} r.0? p.0? -
+/. - c.-257_*764{0} r.0 p.0 -
?/. 5i c.573-2A>? r.? p.? -
+/. - c.? r.(?) p.(Pro?Gly) -
+/. - c.2T>C r.(?) p.(Met1?) -
+?/. 2 c.3G>A r.(?) p.(Met1?) -
+/. 2 c.17T>A r.(?) p.(Leu6*) -
+/. - c.18del r.(?) p.(Val7Tyrfs*12) -
+/. 2 c.18del r.(?) p.(Val7Tyrfs*12) -
+/. 2 c.29T>C - p.Ile10Thr 0.29 relative activity, 0.65 WT/combined activity
+/. 2 c.29T>C r.(?) p.(Ile10Thr) -
?/. 2 p.(Ile10Thr) r.(?) p.(Ile10Thr) -
-?/. 2 c.40C>T - p.Leu14Phe 1.06 relative activity, 1.13 WT/combined activity
?/. 2 c.41T>C r.(?) p.(Leu14Pro) -
+?/. 2 c.44C>G - p.Thr15Ser 0.88 relative activity, 1.31 WT/combined activity
+/. 2 c.46_49del r.(?) p.(Asn16Profs*2) -
+/. 2 c.46_49del r.(?) p.(Asn16Profs*2) -
+/. 2 c.46_49del r.(?) p.(Asn16Profs*2) -
+/. 2 c.50C>T r.(?) p.(Ser17Phe) -
+/. 2 c.61G>A r.(?) p.(Glu21Lys) -
+/. 2i c.62-1G>A r.spl p.? -
+/. 2i c.62-1G>C r.spl p.? -
+?/. 2i_5 c.(61+1_62-1)_(298_472)del r.? p.? 13 U/L (normal >100)
?/. 3 c.69_74del r.(?) p.(Glu23_Lys24del) -
+/. 3 c.82T>G r.(?) p.(Tyr28Asp) -
+/. 3 c.83A>G r.(?) p.(Tyr28Cys) -
+/. 3 c.85T>C r.(?) p.(Trp29Arg) -
+/. 3 c.88C>T r.(?) p.(Arg30*) -
+/. 3 c.94C>T r.(?) p.(Gln32*) -
?/. 3 c.97G>C r.(?) p.(Ala33Pro) -
+/. 3 c.98C>T - p.Ala33Val 0.12 relative activity, 0.63 WT/combined activity
+/. 3 c.98C>T r.(?) p.(Ala33Val) -
+/. 3 c.98C>T r.(?) p.(Ala33Val) -
+/. 3 c.98C>T r.(?) p.(Ala33Val) combined activity 6 U/L (normal >30)
+/. 3 c.98C>T r.(?) p.(Ala33Val) -
?/. 3 p.(Thr36Pro) r.(?) p.(Thr36Pro) -
-?/. 3 c.107C>T - p.Thr36Ile 0.93 relative activity, 0.75 WT/combined activity
+/. 3 c.110T>C r.(?) p.(Leu37Pro) -
+/. 3 p.(Leu37Pro) r.(?) p.(Leu37Pro) -
?/. 3 c.113_117delinsTG r.(?) p.(Lys38_Tyr39delinsMet) -
+?/. 3 c.116A>G - p.Tyr39Cys 0.54 relative activity, 0.85 WT/combined activity
+/. 3 c.119C>T r.(?) p.(Ala40Val) -
+/. 3 c.119C>T r.(?) p.(Ala40Val) -
+/. 3 c.119C>T - p.Ala40Val 0.07 relative activity, 0.87 WT/combined activity
+/. 3 c.119C>T r.(?) p.(Ala40Val) -
+/. 3 c.119C>T r.(?) p.(Ala40Val) -
+/. 3 c.119C>T r.(?) p.(Ala40Val) -
+/. 3 c.119C>T r.(?) p.(Ala40Val) -
+?/. 3 c.119C>T r.(?) p.(Ala40Val) -
+/. 3 c.129del r.(?) p.(Gln44Argfs*24) -
+/. 3 c.130C>T r.(?) p.(Gln44*) -
?/. 3 c.140A>T r.(?) p.(Asn47Ile) -
?/. 3 p.(Asn47Ile) r.(?) p.(Asn47Ile) -
?/. 3 c.146A>T r.(?) p.(Asn49Ile) -
+/. 3 c.151G>T r.(?) p.(Ala51Ser) -
./. - c.152C>T r.(?) p.(Ala51Val) -
+/. 3 c.152C>T r.(?) p.(Ala51Val) -
+/. 3 c.152C>T r.(?) p.(Ala51Val) -
+/. 3 c.152C>T - p.Ala51Val 0.04 relative activity, 0.52 WT/combined activity
+/. 3 c.152C>T r.(?) p.(Ala51Val) -
+/. 3 p.(Ala51Val) r.(?) p.(Ala51Val) -
+?/. 3 c.165_167del r.(?) p.(Ile55del) -
?/. 3 c.178G>C r.(?) p.(Asp60His) -
+/. 3 c.180T>G r.(?) p.(Asp60Glu) -
?/. 3i c.182-3C>A r.spl? p.? -
+/. 3i c.182-2A>C r.spl p.? -
+/. 4 c.184A>G r.(?) p.(Met62Val) 2-16 U/L (normal >100)
+/. 4 c.184A>T r.(?) p.(Met62Leu) -
+/. 4 c.186G>C r.(?) p.(Met62Ile) -
+/. 4 c.187G>C r.(?) p.(Gly63Arg) 9-50 U/L (normal >100)
+/. 4 c.187_205del r.(?) p.(Gly63Leufs*53) -
+/. 4 c.187_205del r.(?) p.(Gly63Leufs*53) -
+/. 4 c.188G>T r.(?) p.(Gly63Val) -
+/. 4 c.188_205dup r.(?) p.(Gly63_Thr68dup) -
?/. 4 p.(Ser65Tyr) r.(?) p.(Ser65Tyr) -
?/. 4 c.202_204del r.(?) p.(Thr68del) -
+/. 4 c.203C>T r.(?) p.(Thr68Met) -
+/. 4 c.203C>T r.(?) p.(Thr68Met) -
+/. 4 c.203C>T - p.Thr68Met 0.03 relative activity, 0.37 WT/combined activity
+/. 4 c.203C>T r.(?) p.(Thr68Met) -
+/. 4 c.203C>T r.(?) p.(Thr68Met) -
+/. 4 c.203C>T r.(?) p.(Thr68Met) -
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