Transcript #00001336 (NM_014289.3, CAPN6 gene)

Transcript name calpain 6
Gene name CAPN6 (calpain 6)
Chromosome X
Transcript - NCBI ID NM_014289.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_055104.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

19 entries on 1 page. Showing entries 1 - 19.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.165+310T>C r.(=) p.(=)
-?/. - c.177T>C r.(?) p.(Asp59=)
?/. - c.186T>A r.(?) p.(His62Gln)
-?/. - c.186T>A r.(?) p.(His62Gln)
-?/. - c.432C>T r.(=) p.(=)
?/. - c.469G>C r.(?) p.(Glu157Gln)
?/. - c.787C>T r.(?) p.(Arg263Cys)
-?/. - c.808G>A r.(?) p.(Glu270Lys)
?/. - c.829G>C r.(?) p.(Val277Leu)
?/. - c.894-24_894-23insC r.(=) p.(=)
?/. - c.894-15dup r.(=) p.(=)
-?/. - c.1026T>C r.(=) p.(=)
?/. - c.1295G>A r.(?) p.(Arg432His)
-?/. - c.1449C>T r.(=) p.(=)
-/. - c.1493C>T r.(?) p.(Thr498Ile)
?/. - c.1493C>T r.(?) p.(Thr498Ile)
-?/. - c.1598C>A r.(?) p.(Ala533Asp)
?/. - c.*285T>C - p.(=)
?/. - c.*285T>C - p.(=)
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