Transcript #00023892 (NM_001039523.2, CHRNA1 gene)

Transcript name transcript variant 1
Gene name CHRNA1 (cholinergic receptor, nicotinic, alpha 1 (muscle))
Chromosome 2
Transcript - NCBI ID NM_001039523.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001034612.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

108 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. ? c.? r.(?) p.(?)
+/. ? c.? r.(?) p.(?)
-/. 1i c.43+59G>T r.(?) p.(=)
-/. 1i c.43+59G>T r.(?) p.(=)
-/. 1i c.43+59G>T r.(?) p.(=)
-/. 1i c.43+59G>T r.(?) p.(=)
-/. 1i c.43+59G>T r.(?) p.(=)
-/. 1i c.43+59G>T r.(?) p.(=)
-/. 1i c.43+59G>T r.(?) p.(=)
-/. 1i c.43+59G>T r.(?) p.(=)
-/. 1i c.43+59G>T r.(?) p.(=)
+/. 2 c.117_133dup r.(?) p.(His25Argfs*19)
+/. 2 c.117_133dup r.(?) p.(His25Argfs*19)
+/. 2 c.117_133dup r.(?) p.(His25Argfs*19)
+?/. - c.119G>A r.(?) p.(Arg40Gln)
-/. 2 c.120G>A r.(?) p.(=)
-?/. - c.144C>T r.(?) p.(Val48=)
-/. 2i c.190-5del r.spl? p.?
-/. - c.190-5del r.spl? p.?
-/. 2i c.190-5dup r.= p.=
-/. 2i c.190-5dup r.= p.=
-/. 2i c.190-5dup r.= p.=
-/. 2i c.190-5dup r.= p.=
-/. 2i c.190-5dup r.(?) p.(=)
-/. 2i c.190-5dup r.(?) p.(=)
-/. 2i c.190-5dup r.(?) p.(=)
-/. 2i c.190-5dup r.(?) p.(=)
-/. 2i c.190-5dup r.(?) p.(=)
-/. 2i c.190-5dup r.(?) p.(=)
-/. 2i c.190-5dup r.= p.=
-/. 2i c.190-5dup r.(?) p.(=)
-?/. - c.190-5T>C r.spl? p.?
?/. - c.199A>T r.(?) p.(Asn67Tyr)
?/. - c.224G>A r.(?) p.(Arg75His)
?/. - c.224G>A r.(?) p.(Arg75His)
+?/. - c.257G>A r.(?) p.(Arg86His)
+?/. - c.257G>A r.(?) p.(Arg86His)
-?/. - c.280G>A r.(?) p.(Val94Ile)
+/. ? c.280G>T r.(?) p.(G94C)
-/. - c.309+88G>A r.(=) p.(=)
+?/. - c.392G>A r.(?) p.(Trp131Ter)
+?/. - c.392G>A r.(?) p.(Trp131Ter)
+/. - c.392G>A r.(?) p.(Trp131Ter)
?/. - c.439A>G r.(?) p.(Ile147Val)
+/. ? c.441del r.(?) p.(?)
+/. ? c.454G>C r.(?) p.(V152L)
+/. ? c.518dup r.(?) p.(?)
?/. - c.529G>A r.(?) p.(Val177Ile)
+/. 6 c.592G>A r.592g>a p.Gly198Ser
+/. 6 c.592G>A r.592g>a p.Gly198Ser
+/. 6 c.592G>A r.(?) p.(Gly198Ser)
+/. 6 c.592G>A r.(?) p.(Gly198Ser)
+/. 6 c.592G>A r.(?) p.(Gly198Ser)
+/. 6 c.592G>A r.(?) p.(Gly198Ser)
+/. 6 c.592G>A r.(?) p.Gly198Ser
+/. 6 c.592G>A r.(?) p.(Gly198Ser)
+/. 6 c.601G>A r.601g>a p.Val201Met
+?/. 6 c.601G>A r.(?) p.Val201Met
-?/. - c.615+4G>C r.spl? p.?
?/. - c.703T>C r.(?) p.(Tyr235His)
+/. ? c.737C>A r.(?) p.(S246Y)
+/. ? c.737C>T r.(?) p.(S246F)
+/. ? c.757T>G r.(?) p.(F253V)
+/. 6 c.761G>T r.(?) p.(Arg254Leu)
+/. 6 c.761G>T r.(?) p.(Arg254Leu)
+/. 6 c.761G>T r.(?) p.(Arg254Leu)
+/. 7 c.786C>A r.(?) p.(Asn262Lys)
+/. 7 c.786C>G r.(?) p.(Asn262Lys)
+/. 7 c.786C>G r.(?) p.Asn262Lys
+/. ? c.805G>T r.(?) p.(V269F)
+/. ? c.826T>C r.(?) p.(F276L)
+/. - c.851C>A r.(?) p.(Ser284Ter)
-/. - c.854-14_854-12del r.(=) p.(=)
-/. - c.854-14_854-12del r.(=) p.(=)
-/. - c.854-13_854-12del r.(=) p.(=)
-/. - c.854-13_854-12del r.(=) p.(=)
-/. - c.854-13_854-12del r.(=) p.(=)
-/. - c.854-12del r.(=) p.(=)
-/. - c.854-12del r.(=) p.(=)
-?/. - c.854-8C>T r.(=) p.(=)
-?/. - c.854-3C>T r.spl? p.?
?/. - c.863T>C r.(?) p.(Met288Thr)
+?/. 8 c.866C>A r.(?) p.(Thr289Asn)
+/. 8 c.896C>T r.821c>u p.Thr299Ile
+/. 8 c.896C>T r.(?) p.Thr299Ile
+/. ? c.913G>A r.(?) p.(V305I)
+/. 8 c.941G>T r.941g>u p.Ser314Ile
?/. - c.941G>T r.(?) p.(Ser314Ile)
+/. 8 c.941G>T r.(?) p.Ser314Ile
+/. ? c.946A>C r.(?) p.(Ile316Leu)
?/. - c.959G>C r.(?) p.(Gly320Ala)
+?/. 8 c.977C>A r.(?) p.(Thr326Asn)
+/. ? c.997C>T r.(?) p.(R333W)
-/. 8 c.1035C>T r.= p.=
-/. 8 c.1035C>T r.= p.=
-/. - c.1035C>T r.(?) p.(His345=)
?/. - c.1043C>T r.(?) p.(Pro348Leu)
+?/. - c.1063G>T r.? p.Glu355*
-?/. - c.1078-8T>C r.(=) p.(=)
+/. ? c.1264G>T r.(?) p.(V422F)
Legend   How to query   « First ‹ Prev     1 2     Next › Last »