Transcript #00000664

Transcript name transcript variant X1
Gene name CPT1A (carnitine palmitoyltransferase 1A (liver))
Chromosome 11
Transcript - NCBI ID XM_005273762.1
Transcript - Ensembl ID -
Protein - NCBI ID XP_005273819.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

101 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.192T>G p.(Tyr64*) - - - -
+/+ - 2/19 c.192T>G p.(Tyr64*) - stop_gained - -
./. - - c.196T>C p.(Ser66Pro) - - - -
./. - - c.282G>A p.(Trp94*) - - - -
./. - - c.296_298del p.(Val99del) - - - -
./. - - c.318C>A p.(Tyr106*) - - - -
./. - - c.377+1G>A p.? - - - -
./. - - c.378-1G>A p.? - - - -
./. - - c.394C>T p.(Gln132*) - - - -
+/+ - 4/19 c.394C>T p.(Gln132*) - stop_gained - -
+/+ - 4/19 c.463C>T p.(Arg155Cys) - missense_variant - -
./. - - c.463C>T p.(Arg155Cys) - - - -
./. - - c.574C>T p.(Arg192*) - - - -
+/+ - 5/19 c.574C>T p.(Arg192*) - stop_gained - -
./. - - c.644_645del p.(Val215Glufs*130) - - - -
./. - - c.789+1G>C p.? - - - -
./. - - c.789+1G>T p.? - - - -
./. - - c.790-2A>G p.? - - - -
./. - - c.823C>T p.(Arg275*) - - - -
./. - - c.867+1G>C p.? - - - -
./. - - c.868-2A>G p.? - - - -
./. - - c.868-1G>A p.? - - - -
+/+ - 8/19 c.919G>A p.(Ala307Thr) - missense_variant - -
./. - - c.919G>A p.(Ala307Thr) - - - -
+/+ - 8/19 c.919G>C p.(Ala307Pro) - missense_variant - -
./. - - c.1008C>G p.(Cys336Trp) - - - -
+/+ - 9/19 c.1008C>G p.(Cys336Trp) - missense_variant - -
./. - - c.1015C>T p.(Gln339*) - - - -
+/+ - 9/19 c.1037C>T p.(Thr346Ile) - missense_variant - -
./. - - c.1037C>T p.(Thr346Ile) - - - -
./. - - c.1042C>G p.(Arg348Gly) - - - -
+/+ - 9/19 c.1042C>G p.(Arg348Gly) - missense_variant - -
+/+ - - c.1044del p.(Ile349Serfs*12) - - - -
./. - - c.1044del p.(Ile349Serfs*12) - - - -
./. - - c.1063+1G>A p.? - - - -
./. - - c.1063+2T>C p.? - - - -
./. - - c.1123T>G p.(Phe375Val) - - - -
+/+ - 10/19 c.1123T>G p.(Phe375Val) - missense_variant - -
./. - - c.1165C>T p.(Arg389Trp) - - - -
+/+ - 10/19 c.1165C>T p.(Arg389Trp) - missense_variant - -
./. - - c.1175A>G p.(Glu392Gly) - - - -
+/+ - 10/19 c.1175A>G p.(Glu392Gly) - missense_variant - -
./. - - c.1259+1G>A p.? - - - -
./. - - c.1259+2T>C p.? - - - -
./. - - c.1337C>T p.(Ala446Val) - - - -
+/+ - 11/19 c.1337C>T p.(Ala446Val) - missense_variant - -
./. - - c.1370_1372del p.(Glu457del) - - - -
./. - - c.1394del p.(Asp465Valfs*98) - - - -
+/+ - 11/19 c.1435C>T p.(Arg479*) - stop_gained - -
./. - - c.1435C>T p.(Arg479*) - - - -
./. - - c.1444_1448+4del p.? - - - -
+/+ - 12/19 c.1457A>G p.(Asp486Gly) - missense_variant - -
./. - - c.1457A>G p.(Asp486Gly) - - - -
./. - - c.1460A>C p.(Lys487Thr) - - - -
./. - - c.1463C>T p.(Ser488Leu) - - - -
./. - - c.1482del p.(Phe494Leufs*69) - - - -
./. - - c.1489G>A p.(Gly497Arg) - - - -
+/+ - 12/19 c.1489G>T p.(Gly497Trp) - missense_variant - -
./. - - c.1489G>T p.(Gly497Trp) - - - -
./. - - c.1521G>A p.(Trp507*) - - - -
+/+ - 12/19 c.1521G>A p.(Trp507*) - stop_gained - -
+/+ - 12/19 c.1532C>T p.(Pro511Leu) - missense_variant - -
./. - - c.1532C>T p.(Pro511Leu) - - - -
+/+ - 12/19 c.1547T>C p.(Leu516Pro) - missense_variant - -
./. - - c.1547T>C p.(Leu516Pro) - - - -
./. - - c.1554+1G>A p.? - - - -
./. - - c.1555-1G>A p.? - - - -
./. - - c.1589A>G p.(Tyr530Cys) - - - -
+/+ - 13/19 c.1589A>G p.(Tyr530Cys) - missense_variant - -
+/+ - 13/19 c.1590T>A p.(Tyr530*) - stop_gained - -
./. - - c.1590T>A p.(Tyr530*) - - - -
+/+ - 13/19 c.1590T>G p.(Tyr530*) - stop_gained - -
./. - - c.1590T>G p.(Tyr530*) - - - -
./. - - c.1671+1G>A p.? - - - -
+/+ - - c.1671+1_1671+84del p.? - - - -
./. - - c.1671+533_1671+534del p.(=) - - - -
./. - - c.1672-2A>G p.? - - - -
./. - - c.1696del p.(Leu566*) - - - -
+/+ - - c.1696del p.(Leu566*) - - - -
./. - - c.1807C>T p.(Gln603*) - - - -
./. - - c.1833C>A p.(Tyr611*) - - - -
+/+ - 14/19 c.1833C>A p.(Tyr611*) - stop_gained - -
./. - - c.1971+10_1971+33del p.(=) - - - -
./. - - c.1972-1G>A p.? - - - -
+/+ - - c.1972-1G>A p.? - splice_acceptor_variant - -
./. - - c.1972-1G>C p.? - - - -
./. - - c.2093_2094insAAAA p.(Tyr698*) - - - -
./. - - c.2123_2124+2del p.? - - - -
./. - - c.2124+2T>G p.? - - - -
./. - - c.2124+3_2124+6del p.? - - - -
+?/+? - - c.2124+3_2124+6del p.? - - - -
./. - - c.2167C>T p.(Gln723*) - - - -
./. - - c.2191_2203del p.(Leu731Glnfs*52) - - - -
./. - - c.2191_2203del p.(Leu731Glnfs*52) - - - -
+/+ - 17/19 c.2222G>A p.(Gly741Glu) - missense_variant - -
./. - - c.2222G>A p.(Gly741Glu) - - - -
./. - - c.2225G>A p.(Gly742Glu) - - - -
+/+ - 17/19 c.2225G>A p.(Gly742Glu) - missense_variant - -
./. - - c.2252G>A p.(Gly751Asp) - - - -
+/+ - 18/19 c.2252G>A p.(Gly751Asp) - missense_variant - -
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