Transcript #00024233 (NM_001128840.2, CACNA1D gene)

Transcript name transcript variant 2
Gene name CACNA1D (calcium channel, voltage-dependent, L type, alpha 1D subunit)
Chromosome 3
Transcript - NCBI ID NM_001128840.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001122312.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -
Date created 2017-03-05 15:34:18 +01:00 (CET)
Date last edited N/A


Variants

260 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-19G>A r.(?) p.(=)
?/. - c.1A>G r.(?) p.(Met1?)
-/. - c.20_22del r.(?) p.(Met7del)
-?/. - c.20_22dup r.(?) p.(Met7dup)
-?/. - c.68-8C>T r.(=) p.(=)
-?/. - c.71C>G r.(?) p.(Ala24Gly)
?/. - c.172G>A r.(?) p.(Asp58Asn)
?/. - c.188C>T r.(?) p.(Ala63Val)
-/. - c.222C>T r.(?) p.(Pro74=)
-/. - c.264C>T r.(?) p.(Tyr88=)
-?/. - c.264C>T r.(?) p.(Tyr88=)
-?/. - c.269_272del r.(?) p.(Lys90ThrfsTer32)
-?/. - c.291G>T r.(?) p.(=)
-/. - c.312C>T r.(?) p.(Arg104=)
?/. - c.320T>G r.(?) p.(Phe107Cys)
-?/. - c.378-7T>A r.(=) p.(=)
-?/. - c.391T>C r.(?) p.(Phe131Leu)
?/. - c.416A>G r.(?) p.(Asn139Ser)
?/. - c.484-1857C>T - -
-?/. - c.484-17T>A r.(=) p.(=)
-?/. - c.484-4A>G r.spl? p.?
-/. - c.546G>A r.(?) p.(Ala182=)
-/. - c.623+8T>A r.(=) p.(=)
-?/. - c.645A>G r.(?) p.(Glu215=)
-/. - c.648A>G r.(?) p.(Gln216=)
-?/. - c.648A>G r.(?) p.(Gln216=)
-?/. - c.648A>G r.(?) p.(Gln216=)
?/. - c.648A>G r.(?) p.(Gln216=)
?/. - c.687C>T r.(?) p.(Gly229=)
-/. - c.723C>T r.(?) p.(Ala241=)
?/. - c.736C>T r.(?) p.(Arg246*)
-/. - c.762G>A r.(?) p.(Val254=)
-?/. - c.766+18_766+20del r.(=) p.(=)
-?/. - c.767-12dup r.(=) p.(=)
-/. - c.767-12dup r.(=) p.(=)
-/. - c.846C>T r.(?) p.(Ile282=)
?/. - c.859A>G r.(?) p.(Ile287Val)
?/. - c.893A>G r.(?) p.(His298Arg)
-?/. - c.900A>G r.(?) p.(Thr300=)
-/. - c.920-17G>C r.(=) p.(=)
-/. - c.927A>G r.(?) p.(Val309=)
-?/. - c.954G>A r.(?) p.(Ala318=)
-/. - c.954G>A r.(?) p.(Ala318=)
?/. - c.1003A>C r.(?) p.(Ser335Arg)
?/. - c.1007G>A r.(?) p.(Gly336Asp)
?/. - c.1033A>C r.(?) p.(Thr345Pro)
./. - c.1104T>C r.(=) p.(=)
-/. - c.1104T>C r.(?) p.(Asp368=)
-/. - c.1104T>C r.(?) p.(Asp368=)
?/. - c.1112A>C r.(?) p.(Tyr371Ser)
?/. - c.1112A>C r.(?) p.(Tyr371Ser)
?/. - c.1112A>C r.(?) p.(Tyr371Ser)
+/. 8a c.1207G>C r.1207g>c p.Gly403Arg
+/. 8a c.1207G>C r.(?) p.(Gly403Arg)
+/. 8a c.1207G>C r.(?) p.(Gly403Arg)
-?/. - c.1212A>G r.(?) p.(Val404=)
?/. - c.1220+597C>T r.(=) p.(=)
?/. - c.1220+695G>A r.(=) p.(=)
-/. - c.1220+700C>T r.(=) p.(=)
-?/. - c.1233G>A r.(?) p.(Lys411=)
?/. - c.1291C>A r.(?) p.(Leu431Met)
-?/. - c.1344C>T r.(?) p.(Ile448=)
-/. - c.1344C>T r.(?) p.(Ile448=)
-?/. - c.1344C>T r.(?) p.(Ile448=)
-/. - c.1350G>A r.(?) p.(Pro450=)
-?/. - c.1351G>C r.(?) p.(Glu451Gln)
?/. - c.1385G>A r.(?) p.(Arg462Gln)
-?/. - c.1407C>T r.(?) p.(Ser469=)
-/. - c.1407C>T r.(?) p.(Ser469=)
?/. - c.1457G>A r.(?) p.(Arg486Gln)
-?/. - c.1469G>A r.(?) p.(Gly490Glu)
?/. - c.1478+4A>C r.spl? p.?
?/. - c.1478+295T>C r.(=) p.(=)
-?/. - c.1517G>A r.(?) p.(Arg506His)
-?/. - c.1590C>T r.(?) p.(Ile530=)
-/. - c.1590C>T r.(?) p.(Ile530=)
-?/. - c.1590C>T r.(?) p.(Ile530=)
?/. - c.1637A>G r.(?) p.(Asn546Ser)
?/. - c.1637A>G r.(?) p.(Asn546Ser)
-?/. - c.1704C>T r.(?) p.(Cys568=)
-?/. - c.1711C>T r.(?) p.(Leu571=)
?/. - c.1805C>T r.(?) p.(Thr602Met)
?/. - c.1805C>T r.(?) p.(Thr602Met)
?/. - c.1921G>A r.(?) p.(Ala641Thr)
?/. - c.1939A>T r.(?) p.(Met647Leu)
?/. - c.1939A>T r.(?) p.(Met647Leu)
-?/. - c.1998G>A r.(?) p.(Leu666=)
-/. - c.1998G>A r.(?) p.(Leu666=)
-?/. - c.1998G>A r.(?) p.(Leu666=)
-/. - c.2019C>T r.(?) p.(Gly673=)
-?/. - c.2022C>G r.(?) p.(Gly674=)
?/. - c.2069A>G r.(?) p.(Asn690Ser)
?/. - c.2069A>G r.(?) p.(Asn690Ser)
?/. - c.2069A>G r.(?) p.(Asn690Ser)
-/. - c.2100+14C>G r.(=) p.(=)
-/. - c.2136C>T r.(?) p.(Tyr712=)
?/. - c.2186G>C r.(?) p.(Cys729Ser)
?/. - c.2248A>G r.(?) p.(Ile750Val)
?/. - c.2250C>A r.(?) p.(Ile750=)
?/. - c.2250C>A r.(?) p.(Ile750=)
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