Transcript #00005709 (NM_001885.1, CRYAB gene)

Transcript name crystallin, alpha B
Gene name CRYAB (crystallin, alpha B)
Chromosome 11
Transcript - NCBI ID NM_001885.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001876.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

129 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. _1 c.-652A>G r.(?) p.(=)
+?/. _1 c.-652A>G r.(?) p.(=)
?/. _1 c.-650C>G r.(?) p.(=)
?/. _1 c.-650C>G r.(?) p.(=)
+?/. _1 c.-650C>G r.(?) p.(=)
?/. _1 c.-249C>G r.(?) p.(=)
?/. _1 c.-249C>G r.(?) p.(=)
?/. _1 c.-249C>G r.(?) p.(=)
-?/. - c.-1243A>G r.(=) p.(=)
-?/. - c.-1243A>G r.(=) p.(=)
?/. - c.-21C>T r.(?) p.(=)
-?/. - c.7A>G r.(?) p.(Ile3Val)
-?/. - c.18C>A r.(?) p.(His6Gln)
-?/. - c.19C>T r.(?) p.(His7Tyr)
?/. - c.19C>T r.(?) p.(His7Tyr)
?/. - c.19C>T r.(?) p.(His7Tyr)
?/. - c.21C>G r.(?) p.(His7Gln)
+?/. 1 c.34C>T r.(?) p.(Arg12Cys)
+?/. 1 c.34C>T r.(?) p.(Arg12Cys)
+/. 1 c.58C>T r.(?) p.(Pro20Ser)
+?/. 1 c.59C>G r.(?) p.(Pro20Arg)
+?/. 1 c.59C>G r.(?) p.(Pro20Arg)
+?/. 1 c.59C>G r.(?) p.(Pro20Arg)
+?/. 1 c.59C>G r.(?) p.(Pro20Arg)
+?/. 1 c.59C>G r.(?) p.(Pro20Arg)
+?/. 1 c.59C>G r.(?) p.(Pro20Arg)
-/. - c.60C>T r.(?) p.(Pro20=)
-/. - c.60C>T r.(?) p.(Pro20=)
-?/. - c.60C>T r.(?) p.(Pro20=)
-/. - c.60C>T r.(?) p.(Pro20=)
?/. - c.65G>A r.(?) p.(Arg22His)
-/. - c.84C>T r.(?) p.(Phe28=)
?/. - c.104C>T r.(?) p.(Ser35Phe)
?/. - c.116C>T r.(?) p.(Pro39Leu)
-?/. - c.116C>T r.(?) p.(Pro39Leu)
?/. - c.116C>T r.(?) p.(Pro39Leu)
?/. - c.119C>T r.(?) p.(Thr40Met)
?/. 1 c.122C>A r.(?) p.(Ser41Tyr)
?/. - c.124A>G r.(?) p.(Thr42Ala)
?/. - c.133A>G r.(?) p.(Ser45Gly)
?/. - c.148C>T r.(?) p.(Arg50Trp)
-?/. - c.152C>T r.(?) p.(Pro51Leu)
-?/. - c.152C>T r.(?) p.(Pro51Leu)
-/. - c.152C>T r.(?) p.(Pro51Leu)
-?/. - c.152C>T r.(?) p.(Pro51Leu)
-/. - c.152C>T r.(?) p.(Pro51Leu)
?/. 1 c.152C>T r.(?) p.(Pro51Leu)
-/. - c.165G>A r.(?) p.(Leu55=)
-/. - c.165G>A r.(?) p.(Leu55=)
-/. - c.165G>A r.(?) p.(Leu55=)
-?/. - c.165G>A r.(?) p.(Leu55=)
-/. - c.165G>A r.(?) p.(Leu55=)
+?/. 1 c.166C>T r.(?) p.(Arg56Trp)
+?/. 1 c.166C>T r.(?) p.(Arg56Trp)
+?/. 1 c.166C>T r.(?) p.(Arg56Trp)
+?/. 1 c.166C>T r.(?) p.(Arg56Trp)
+?/. 1 c.166C>T r.(?) p.(Arg56Trp)
+?/. - c.166C>T r.(?) p.(Arg56Trp)
?/. - c.167G>C r.(?) p.(Arg56Pro)
?/. - c.167G>C r.(?) p.(Arg56Pro)
?/. - c.193C>A r.(?) p.(Leu65Ile)
?/. - c.201+17C>G r.(=) p.(=)
?/. - c.201+17C>G r.(=) p.(=)
?/. - c.201+17C>G r.(=) p.(=)
?/. - c.266T>A r.(?) p.(Leu89His)
?/. - c.266T>A r.(?) p.(Leu89His)
?/. - c.277G>T r.(?) p.(Val93Leu)
-?/. - c.277G>T r.(?) p.(Val93Leu)
?/. - c.277G>T r.(?) p.(Val93Leu)
-?/. - c.277G>T r.(?) p.(Val93Leu)
?/. - c.277G>T r.(?) p.(Val93Leu)
+?/. - c.295G>T r.(?) p.(Glu99Ter)
+?/. - c.324+1G>T r.spl? p.?
-/. - c.324+4T>G r.spl? p.?
-/. - c.324+4T>G r.spl? p.?
-/. - c.324+4T>G r.spl? p.?
-/. - c.324+4T>G r.spl? p.?
-/. 2i c.324+4T>G r.spl? p.(?)
-?/. - c.324+40G>A r.(=) p.(=)
?/. 2i c.324+214C>T r.(?) p.(=)
?/. 2i c.325-170T>C r.(?) p.(=)
?/. 2i c.325-137G>A r.(?) p.(=)
-?/. - c.325-18C>T r.(=) p.(=)
+?/. - c.325G>A r.(?) p.(Asp109Asn)
+/. 4 c.325G>C r.(?) p.(Asp109His)
?/. - c.325G>C r.(?) p.(Asp109His)
+/. 3 c.326A>G r.(?) p.(Asp109Gly)
+/. 3 c.358A>G r.358a>g p.Arg120Gly
+/. 3 c.358A>G r.358a>g p.Arg120Gly
+/. 3 c.358A>G r.358a>g p.Arg120Gly
+/. 3 c.358A>G r.358a>g p.Arg120Gly
+/. - c.358A>G r.(?) p.(Arg120Gly)
+/. 3 c.358A>G r.358a>g p.Arg120Gly
-?/. - c.367C>T r.(?) p.(Arg123Trp)
?/. - c.367C>T r.(?) p.(Arg123Trp)
?/. - c.367C>T r.(?) p.(Arg123Trp)
?/. - c.367C>T r.(?) p.(Arg123Trp)
?/. - c.367C>T r.(?) p.(Arg123Trp)
-?/. - c.381T>C r.(?) p.(Asp127=)
+?/. 3 c.404C>A r.(?) p.(Ser135*)
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