Transcript #00000676 (NM_000291.3, PGK1 gene)

Transcript name phosphoglycerate kinase 1
Gene name PGK1 (phosphoglycerate kinase 1)
Chromosome X
Transcript - NCBI ID NM_000291.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000282.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

30 entries on 1 page. Showing entries 1 - 30.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-44491944T>A - -
-/. - c.-4C>T r.(?) p.(=)
+?/. - c.77A>G r.(?) p.(Asn26Ser)
?/. - c.183G>A r.(?) p.(Met61Ile)
?/. - c.241G>T r.(?) p.(Val81Phe)
-?/. - c.356T>C r.(?) p.(Leu119Pro)
?/. - c.392A>G r.(?) p.(Lys131Arg)
-?/. - c.418G>A r.(?) p.(Val140Ile)
?/. - c.441A>G r.(?) p.(Ile147Met)
-?/. - c.506C>T r.(?) p.(Ala169Val)
-?/. - c.539A>G r.(?) p.(Asn180Ser)
?/. - c.674A>G r.(?) p.(Asn225Ser)
?/. - c.758T>C r.(?) p.(Ile253Thr)
+/. - c.758T>C r.(?) p.(Ile253Thr)
?/. - c.887C>T r.(?) p.(Ala296Val)
?/. - c.887C>T r.(?) p.(Ala296Val)
?/. - c.914C>G r.(?) p.(Ser305Cys)
?/. - c.936+236del r.(=) p.(=)
?/. - c.936+251_936+252insC r.(=) p.(=)
-/. - c.937-17dup r.(=) p.(=)
-/. - c.937-17dup r.(=) p.(=)
-?/. - c.1114+7G>A r.(=) p.(=)
?/. - c.1115-3C>T r.spl? p.?
?/. - c.1130C>T r.(?) p.(Ala377Val)
?/. - c.1139G>T r.(?) p.(Cys380Phe)
-?/. - c.1152C>T r.(?) p.(Asn384=)
?/. - c.1192G>A r.(?) p.(Ala398Thr)
-?/. - c.1234G>A r.(?) p.(Asp412Asn)
?/. - c.*443del r.(=) p.(=)
-?/. - c.*5923G>C r.(=) p.(=)
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