Transcript #00024102 (NM_199460.2, CACNA1C gene)

Transcript name transcript variant 1
Gene name CACNA1C (calcium channel, voltage-dependent, L type, alpha 1C subunit)
Chromosome 12
Transcript - NCBI ID NM_199460.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_955630.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

398 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.36G>A r.(?) p.(Glu12=)
-?/. 1i c.49+11028A>G r.(?) p.(=)
?/. - c.82G>A r.(?) p.(Ala28Thr)
-?/. - c.101C>T r.(?) p.(Ala34Val)
-/. - c.109G>A r.(?) p.(Gly37Arg)
-/. - c.109G>A r.(?) p.(Gly37Arg)
-/. - c.109G>A r.(?) p.(Gly37Arg)
-?/. - c.118C>G r.(?) p.(Pro40Ala)
?/. - c.131C>A r.(?) p.(Pro44His)
+?/. - c.169G>A r.(?) p.(Asp57Asn)
-/. - c.171C>T r.(?) p.(Asp57=)
-/. - c.171C>T r.(?) p.(Asp57=)
-?/. - c.202G>A r.(?) p.(Ala68Thr)
-?/. - c.202G>A r.(?) p.(Ala68Thr)
?/. - c.206G>A r.(?) p.(Gly69Asp)
-/. - c.213G>A r.(?) p.(Ala71=)
-?/. - c.266C>T r.(?) p.(Pro89Leu)
-?/. - c.275A>G r.(?) p.(Gln92Arg)
-?/. - c.300G>A r.(?) p.(Pro100=)
-/. - c.371+17G>A r.(=) p.(=)
-/. - c.372-15G>A r.(=) p.(=)
-/. - c.372-15G>A r.(=) p.(=)
-/. - c.372-15G>A r.(=) p.(=)
-/. - c.372-10C>T r.(=) p.(=)
-?/. - c.459C>T r.(?) p.(Asn153=)
?/. - c.467A>G r.(?) p.(Asn156Ser)
-/. - c.477+13T>C r.(=) p.(=)
-/. - c.478-19T>G r.(=) p.(=)
?/. - c.513G>A r.(?) p.(Thr171=)
-/. - c.522G>A r.(?) p.(Ala174=)
?/. - c.563A>G r.(?) p.(Asn188Ser)
-/. - c.579C>T r.(?) p.(Asn193=)
-/. - c.615G>T r.(?) p.(Val205=)
-/. - c.617+17G>A r.(=) p.(=)
-/. - c.617+19T>C r.(=) p.(=)
-?/. - c.618-7C>T r.(=) p.(=)
?/. - c.618G>A r.(?) p.(Gly206=)
?/. - c.673G>A r.(?) p.(Gly225Arg)
-?/. - c.724C>T r.(?) p.(Leu242=)
-/. - c.771C>T r.(?) p.(Val257=)
-?/. - c.792C>A r.(?) p.(Ala264=)
-?/. - c.792C>A r.(?) p.(Ala264=)
?/. - c.815C>T r.(?) p.(Ala272Val)
-/. - c.828G>A r.(?) p.(Leu276=)
-/. - c.846C>T r.(?) p.(Tyr282=)
-?/. - c.911T>C r.(?) p.(Ile304Thr)
-/. - c.916+12_916+16del r.(=) p.(=)
-?/. - c.939T>C r.(?) p.(Pro313=)
-?/. - c.960G>A r.(?) p.(Thr320=)
-?/. - c.966C>T r.(?) p.(His322=)
-/. - c.966C>T r.(?) p.(His322=)
?/. - c.971G>A r.(?) p.(Arg324Gln)
-/. - c.984C>T r.(?) p.(Asn328=)
-?/. - c.984C>T r.(?) p.(Asn328=)
-/. - c.990G>A r.(?) p.(Thr330=)
-?/. - c.1002C>T r.(?) p.(Pro334=)
-/. - c.1002C>T r.(?) p.(Pro334=)
?/. - c.1003G>A r.(?) p.(Gly335Ser)
+?/. - c.1097C>T r.(?) p.(Thr366Met)
-?/. - c.1098G>A r.(?) p.(Thr366=)
-?/. - c.1101C>T r.(?) p.(Asp367=)
-?/. - c.1104G>A r.(?) p.(Val368=)
-?/. - c.1113+23C>A r.(=) p.(=)
-/. - c.1113+26A>C r.(=) p.(=)
+/. - c.1114-316G>A r.(=) p.(=)
-/. - c.1114-292C>T r.(=) p.(=)
-/. - c.1114-291G>A r.(=) p.(=)
-?/. - c.1126G>T r.(?) p.(Val376Leu)
-?/. - c.1176G>A r.(?) p.(Gly392=)
-/. - c.1176G>T r.(?) p.(Gly392=)
-/. - c.1176G>T r.(?) p.(Gly392=)
+/. - c.1216G>A r.(?) p.(Gly406Arg)
+/. - c.1216G>A r.(?) p.(Gly406Arg)
-/. - c.1217+10A>C r.(=) p.(=)
-/. - c.1217+13A>G r.(=) p.(=)
-/. - c.1332C>T r.(?) p.(Ala444=)
?/. - c.1342G>A r.(?) p.(Asp448Asn)
?/. - c.1342G>A r.(?) p.(Asp448Asn)
-/. - c.1359C>T r.(?) p.(Asp453=)
?/. - c.1391-2457_1391-2452dup r.(=) p.(=)
-/. - c.1391-27G>T r.(=) p.(=)
?/. - c.1414G>A r.(?) p.(Glu472Lys)
?/. - c.1453G>A r.(?) p.(Glu485Lys)
?/. - c.1468G>A r.(?) p.(Gly490Arg)
?/. - c.1468G>A r.(?) p.(Gly490Arg)
?/. - c.1481C>T r.(?) p.(Ala494Val)
?/. - c.1481C>T r.(?) p.(Ala494Val)
?/. - c.1523G>A r.(?) p.(Arg508Gln)
-/. - c.1524G>A r.(?) p.(Arg508=)
+?/. - c.1552C>A r.(?) p.(Arg518Ser)
+/. - c.1552C>T r.(?) p.(Arg518Cys)
?/. - c.1555G>A r.(?) p.(Ala519Thr)
?/. - c.1555G>A r.(?) p.(Ala519Thr)
-?/. - c.1557C>A r.(?) p.(Ala519=)
?/. - c.1558G>A r.(?) p.(Ala520Thr)
-/. - c.1599G>A r.(?) p.(Leu533=)
-?/. - c.1649A>G r.(?) p.(Asn550Ser)
-?/. - c.1669+10G>A r.(=) p.(=)
-/. - c.1670-19C>G r.(=) p.(=)
?/. - c.1753G>A r.(?) p.(Val585Met)
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