Transcript #00005866 (NM_001814.4, CTSC gene)

Transcript name transcript variant 1
Gene name CTSC (cathepsin C)
Chromosome 11
Transcript - NCBI ID NM_001814.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_001805.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

27 entries on 1 page. Showing entries 1 - 27.
Legend   How to query  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.22C>T r.(?) p.(Leu8=)
?/. - c.38T>C r.(?) p.(Leu13Pro)
-?/. - c.90C>T r.(?) p.(Cys30=)
-/. - c.173-7dup r.(=) p.(=)
-?/. - c.173-7dup r.(=) p.(=)
-/. - c.173-7dup r.(=) p.(=)
-?/. - c.173-6C>A r.(=) p.(=)
-/. - c.173-6C>T r.(=) p.(=)
?/. - c.259A>G r.(?) p.(Ile87Val)
-?/. - c.318+6733C>T r.(=) p.(=)
-?/. - c.326A>G r.(?) p.(Glu109Gly)
?/. - c.373T>C r.(?) p.(Trp125Arg)
+/. - c.402G>A r.(?) p.(Trp134Ter)
?/. - c.415G>A r.(?) p.(Gly139Arg)
-?/. - c.458= r.(=) p.(Thr153=)
-/. - c.458= r.(=) p.(Thr153=)
-?/. - c.459A>G r.(?) p.(Thr153=)
-?/. - c.493A>T r.(?) p.(Asn165Tyr)
-?/. - c.565A>G r.(?) p.(Thr189Ala)
-?/. - c.641+13A>G r.(=) p.(=)
+?/. - c.815G>A r.(?) p.(Arg272His)
+/. 7 c.899G>A r.(?) p.(Gly300Asp)
-?/. - c.933C>G r.(?) p.(Ala311=)
-?/. - c.1146C>T r.(?) p.(His382=)
?/. - c.1201G>A r.(?) p.(Glu401Lys)
?/. - c.1201G>A r.(?) p.(Glu401Lys)
?/. - c.1318C>T r.(?) p.(Arg440Trp)
Legend   How to query