Transcript #00006934 (NM_022051.2, EGLN1 gene)

Transcript name egl nine homolog 1 (C. elegans)
Gene name EGLN1 (egl nine homolog 1 (C. elegans))
Chromosome 1
Transcript - NCBI ID NM_022051.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_071334.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

31 entries on 1 page. Showing entries 1 - 31.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.122A>G r.(?) p.(Tyr41Cys)
?/. - c.124T>C r.(?) p.(Cys42Arg)
-/-? 1 c.471G>C r.(?) p.(Gln157His)
-/-? 1 c.471G>C r.(?) p.(Gln157His)
-/-? 1 c.471G>C r.(?) p.(Gln157His)
-/-? 1 c.471G>C r.(?) p.(Gln157His)
+/. - c.489C>A r.(?) p.(Tyr163*)
+?/+? 1 c.599C>A r.(?) p.(Pro200Gln)
+/+ 1 c.606del r.(?) p.(Met202Ilefs*72)
+?/+? 1 c.609C>G r.(?) p.(Asn203Lys)
+?/. 1 c.661C>T r.(?) p.Gln221*
+?/+? 1 c.740C>G r.(?) p.(Ser247Trp)
+?/+? 1 c.760G>C r.(?) p.(Asp254His)
+/+ 1 c.840dup r.(?) p.(Arg281Thrfs*4)
+?/+? 1 c.865A>G r.(?) p.(Ser289Gly)
+?/+? 1 c.872A>T r.(?) p.(Lys291Ile)
+/+ 2 c.950C>G r.(?) p.(Pro317Arg)
+/+ 3 c.1112G>A r.(?) p.(Arg371His)
?/? 3 c.1112G>A r.(?) p.(Arg371His)
-?/. - c.1113C>T r.(?) p.(Arg371=)
-?/. - c.1113C>T r.(?) p.(Arg371=)
+?/+? 3 c.1121A>G r.(?) p.(His374Arg)
+/+ 3 c.1129C>T r.(?) p.(Gln377*)
+/+ 4 c.1192C>T r.(?) p.(Arg398*)
-/. - c.1217-10dup r.(=) p.(=)
+?/+? 5 c.1267A>G r.(?) p.(Lys423Glu)
-?/. - c.*2598G>A r.(=) p.(=)
+?/. - c.*13547G>A r.(=) p.(=)
-?/. - c.*27976G>T r.(=) p.(=)
?/. - c.*28727G>T r.(=) p.(=)
-?/. - c.*30249T>C r.(=) p.(=)
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