Transcript #00009602 (NM_181507.1, HPS5 gene)

Transcript name transcript variant 1
Gene name HPS5 (Hermansky-Pudlak syndrome 5)
Chromosome 11
Transcript - NCBI ID NM_181507.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_852608.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

80 entries on 1 page. Showing entries 1 - 80.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-231T>C r.(?) p.(=)
-?/. - c.109-10_109-9del r.(=) p.(=)
-/. - c.220-14C>T r.(=) p.(=)
-?/. - c.220-9G>C r.(=) p.(=)
-?/. - c.240C>T r.(?) p.(Val80=)
-/. - c.240C>T r.(?) p.(Val80=)
?/. - c.241G>A r.(?) p.(Ala81Thr)
?/. - c.241G>A r.(?) p.(Ala81Thr)
-/. - c.284+13T>A r.(=) p.(=)
+?/. 4i c.285-10A>G r.284_285ins285-9_285-1 p.Ser95_Gln96insSerCysSer
-/. - c.309A>G r.(?) p.(Glu103=)
-?/. - c.309A>G r.(?) p.(Glu103=)
-?/. - c.345G>A r.(?) p.(Met115Ile)
+/. - c.468del r.(?) p.(Lys156AsnfsTer10)
-?/. - c.580C>T r.(?) p.(Leu194Phe)
-/. - c.612-7A>T r.(=) p.(=)
+?/. - c.646_647del r.(?) p.(Asp216Trpfs*28)
-/. - c.822C>A r.(?) p.(Leu274=)
-/. - c.825-16T>C r.(=) p.(=)
+/. 8 c.879dup r.(?) p.(Lys294GlnfsTer6)
+/. 8 c.888dup r.(?) p.(His297ThrfsTer3)
-?/. - c.958C>G r.(?) p.(Gln320Glu)
?/. - c.974G>C r.(?) p.(Ser325Thr)
-/. - c.985+8T>C r.(=) p.(=)
-/. - c.986-15C>T r.(=) p.(=)
?/. - c.1020G>T r.(?) p.(Leu340Phe)
-?/. - c.1037A>G r.(?) p.(Asn346Ser)
?/. - c.1075C>T r.(?) p.(Arg359Cys)
+?/. - c.1134T>A r.(?) p.(Cys378*)
-/. - c.1324-19G>T r.(=) p.(=)
-?/. - c.1324-14C>T r.(=) p.(=)
?/. - c.1333A>G r.(?) p.(Ser445Gly)
?/. - c.1388C>T r.(?) p.(Ser463Leu)
+?/. - c.1423del r.(?) p.(Leu475Serfs*37)
-/. - c.1476G>A r.(?) p.(Leu492=)
-?/. - c.1501G>A r.(?) p.(Gly501Arg)
-?/. - c.1501G>A r.(?) p.(Gly501Arg)
-/. - c.1501G>A r.(?) p.(Gly501Arg)
+/. - c.1507G>T r.(?) p.(Glu503Ter)
-?/. - c.1609G>T r.(?) p.(Val537Leu)
?/. - c.1775A>G r.(?) p.(Glu592Gly)
-?/. - c.1805G>A r.(?) p.(Ser602Asn)
+/. 16 c.1871T>G r.(?) p.(Leu624Arg
+/. - c.1960A>T r.(?) p.(Lys654Ter)
+/. - c.1960A>T r.(?) p.(Lys654Ter)
+/. 16 c.2026_2029del r.(?) p.(fs*)
+/. 16 c.2026_2029del r.(?) p.(fs*)
-/. - c.2104G>A r.(?) p.(Val702Ile)
?/. - c.2119T>C r.(?) p.(Cys707Arg)
?/. - c.2135_2137del r.(?) p.(Ser712_Pro713delinsThr)
?/. - c.2144A>G r.(?) p.(Glu715Gly)
-/. - c.2247A>G r.(?) p.(Val749=)
?/. - c.2264A>G r.(?) p.(Lys755Arg)
-?/. - c.2385G>A r.(?) p.(Lys795=)
-?/. - c.2402G>A r.(?) p.(Ser801Asn)
-/. - c.2441-8T>C r.(=) p.(=)
-/. - c.2441-8T>C r.(=) p.(=)
?/. - c.2521G>T r.(?) p.(Val841Phe)
-?/. - c.2537C>T r.(?) p.(Pro846Leu)
-/. - c.2562-14G>C r.(=) p.(=)
+/. 18 c.2593C>T r.(?) p.(Arg865*)
-/. - c.2595A>G r.(?) p.(Arg865=)
+/. 18 c.2624del r.(?) p.(Leu875CysfsTer20)
-?/. - c.2721A>G r.(?) p.(Ser907=)
-?/. - c.2880C>T r.(?) p.(Ile960=)
+/. 20 c.2928_2929dup r.(?) p.(fs*)
-?/. - c.2952-4A>G r.spl? p.?
-/. - c.3041T>A r.(?) p.(Leu1014Gln)
-?/. - c.3045G>A r.(?) p.(Met1015Ile)
-/. - c.3045G>A r.(?) p.(Met1015Ile)
-?/. - c.3046G>A r.(?) p.(Glu1016Lys)
-/. - c.3078G>A r.(?) p.(Val1026=)
-/. - c.3217A>G r.(?) p.(Met1073Val)
?/. - c.3229C>T r.(?) p.(Arg1077Trp)
?/. - c.3229C>T r.(?) p.(Arg1077Trp)
-/. - c.3293C>T r.(?) p.(Thr1098Ile)
+/. 22 c.3293C>T r.(?) p.(Thr1098Ile)
-/. - c.3293C>T r.(?) p.(Thr1098Ile)
-?/. - c.3293C>T r.(?) p.(Thr1098Ile)
-?/. - c.3293C>T r.(?) p.(Thr1098Ile)
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