Transcript #00000135 (NM_000068.3, CACNA1A gene)

Transcript name transcript variant 1
Gene name CACNA1A (calcium channel, voltage-dependent, P/Q type, alpha 1A subunit)
Chromosome 19
Transcript - NCBI ID NM_000068.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000059.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

5 entries on 1 page. Showing entries 1 - 5.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
./. 6 c.877G>C r.(?) p.(Gly293Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
./. 6 c.904G>A r.(?) p.(Asp302Asn) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
./. 13 c.1748G>A r.(?) p.(Arg583Gln) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
./. 13 c.1748G>A r.(?) p.(Arg583Gln) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
./. 16 c.2002G>A r.(?) p.(Glu668Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
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