Transcript #00018076

Transcript name transcript variant 2
Gene name CPT1C (carnitine palmitoyltransferase 1C)
Chromosome 19
Transcript - NCBI ID NM_152359.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_689572.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

52 entries on 1 page. Showing entries 1 - 52.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-14-41G>A r.(=) p.(=)
./. - c.141+91C>T r.(=) p.(=)
./. - c.141+120T>C r.(=) p.(=)
./. - c.141+121T>G r.(=) p.(=)
./. - c.142-8C>T r.(=) p.(=)
./. - c.282-5C>T r.spl? p.?
./. - c.288A>C r.(=) p.(=)
./. - c.305G>A r.(?) p.(Arg102Gln)
./. - c.453+14A>G r.(=) p.(=)
./. - c.453+53_453+54insCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTCTGGGTCTCTGTC r.(=) p.(=)
./. - c.453+78_453+79insCT r.(=) p.(=)
./. - c.453+100T>C r.(=) p.(=)
./. - c.645G>A r.(=) p.(=)
./. - c.693+137C>A r.(=) p.(=)
./. - c.721T>C r.(?) p.(Tyr241His)
./. - c.771+109G>A r.(=) p.(=)
./. - c.772-104del r.(=) p.(=)
./. - c.772-84G>T r.(=) p.(=)
./. - c.772-74G>C r.(=) p.(=)
./. - c.772-19C>T r.(=) p.(=)
./. - c.880-35C>T r.(=) p.(=)
./. - c.964+72C>T r.(=) p.(=)
./. - c.964+155A>G r.(=) p.(=)
./. - c.965-169C>G r.(=) p.(=)
./. - c.965-71T>G r.(=) p.(=)
./. - c.1125C>T r.(=) p.(=)
./. - c.1167G>A r.(=) p.(=)
./. - c.1326C>T r.(=) p.(=)
./. - c.1343+21G>T r.(=) p.(=)
./. - c.1344-163G>A r.(=) p.(=)
./. - c.1366C>G r.(?) p.(Leu456Val)
./. - c.1450-62C>T r.(=) p.(=)
./. - c.1450-61G>A r.(=) p.(=)
./. - c.1494C>T r.(=) p.(=)
./. - c.1524A>G r.(=) p.(=)
./. - c.1566+156C>T r.(=) p.(=)
./. - c.1566+192C>T r.(=) p.(=)
./. - c.1567-44C>T r.(=) p.(=)
./. - c.1732-50G>A r.(=) p.(=)
./. - c.1866+36C>A r.(=) p.(=)
./. - c.1866+64G>A r.(=) p.(=)
./. - c.1867-54_1867-53insAGCGGCTGGATCAGGCAGGCCTGGGACGGGTCGTGGTGGTCCGGCGACAGGGTGTTCA r.(=) p.(=)
./. - c.2019+46G>A r.(=) p.(=)
./. - c.2019+49G>A r.(=) p.(=)
./. - c.2019+120G>A r.(=) p.(=)
./. - c.2020-73A>C r.(=) p.(=)
./. - c.2077C>A r.(?) p.(Leu693Met)
./. - c.2133+12_2133+13insG r.(=) p.(=)
./. - c.2227-10_2227-8del r.(=) p.(=)
./. - c.2289G>C r.(?) p.(Gln763His)
./. - c.2334G>C r.(?) p.(Glu778Asp)
./. - c.*29A>G r.(=) p.(=)
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