Transcript #00014030

Transcript name transcript variant 1
Gene name PCSK1 (proprotein convertase subtilisin/kexin type 1)
Chromosome 5
Transcript - NCBI ID NM_000439.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000430.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-21G>A r.(=) p.(=)
?/? c.-20T>C r.(=) p.(=)
?/? c.65T>C r.(?) p.(Leu22Pro)
?/? c.129G>C r.(=) p.(=)
?/? c.180+37C>T r.(=) p.(=)
?/? c.181-34C>T r.(=) p.(=)
?/? c.181-33G>T r.(=) p.(=)
?/? c.226C>T r.(?) p.(Pro76Ser)
?/? c.234G>T r.(?) p.(Arg78Ser)
?/? c.270A>G r.(=) p.(=)
?/? c.285+13C>A r.(=) p.(=)
?/? c.285+38G>A r.(=) p.(=)
?/? c.286-36T>C r.(=) p.(=)
?/? c.286-26T>C r.(=) p.(=)
?/? c.286-22C>G r.(=) p.(=)
?/? c.339A>G r.(=) p.(=)
?/? c.374T>A r.(?) p.(Met125Lys)
?/? c.375G>A r.(?) p.(Met125Ile)
?/? c.396+22A>G r.(=) p.(=)
?/? c.397-47C>T r.(=) p.(=)
?/? c.397-25A>G r.(=) p.(=)
?/? c.397-19C>T r.(=) p.(=)
?/? c.397-10T>C r.(=) p.(=)
?/? c.404C>T r.(?) p.(Thr135Ile)
?/? c.409A>C r.(?) p.(Met137Leu)
?/? c.462A>C r.(?) p.(Lys154Asn)
?/? c.467T>C r.(?) p.(Ile156Thr)
?/? c.470C>T r.(?) p.(Thr157Met)
?/? c.524C>T r.(?) p.(Thr175Met)
?/? c.541T>C r.(?) p.(Tyr181His)
?/? c.543+29C>G r.(=) p.(=)
?/? c.543+31T>A r.(=) p.(=)
?/? c.544-36del r.(=) p.(=)
?/? c.544-26A>C r.(=) p.(=)
?/? c.544del r.(?) p.(Asp182Ilefs*57)
?/? c.593C>T r.(?) p.(Pro198Leu)
?/? c.612C>T r.(=) p.(=)
?/? c.620+16T>C r.(=) p.(=)
?/? c.620+51C>G r.(=) p.(=)
?/? c.621-34G>A r.(=) p.(=)
?/? c.650C>T r.(?) p.(Ala217Val)
?/? c.661A>G r.(?) p.(Asn221Asp)
?/? c.675C>T r.(=) p.(=)
?/? c.701A>T r.(?) p.(Lys234Ile)
?/? c.709+11G>A r.(=) p.(=)
?/? c.710-43C>T r.(=) p.(=)
?/? c.710-22C>T r.(=) p.(=)
?/? c.770A>G r.(?) p.(Asn257Ser)
?/? c.780C>T r.(=) p.(=)
?/? c.781G>A r.(?) p.(Val261Met)
?/? c.782T>C r.(?) p.(Val261Ala)
?/? c.834G>A r.(=) p.(=)
?/? c.836G>C r.(?) p.(Gly279Ala)
?/? c.843C>A r.(=) p.(=)
?/? c.869A>G r.(?) p.(Tyr290Cys)
?/? c.882+10T>G r.(=) p.(=)
?/? c.882+20C>T r.(=) p.(=)
?/? c.882+41C>A r.(=) p.(=)
?/? c.909C>G r.(?) p.(Phe303Leu)
?/? c.910G>A r.(?) p.(Val304Ile)
?/? c.921G>A r.(=) p.(=)
?/? c.927C>T r.(=) p.(=)
?/? c.935G>A r.(?) p.(Arg312His)
?/? c.1029C>T r.(=) p.(=)
?/? c.1071C>T r.(=) p.(=)
?/? c.1095+22C>A r.(=) p.(=)
?/? c.1096-40G>C r.(=) p.(=)
?/? c.1096-10C>T r.(=) p.(=)
?/? c.1097C>T r.(?) p.(Thr366Met)
?/? c.1179T>C r.(=) p.(=)
?/? c.1196+6del r.(=) p.(=)
?/? c.1196+51T>C r.(=) p.(=)
?/? c.1197-22C>G r.(=) p.(=)
?/? c.1197-9C>T r.(=) p.(=)
?/? c.1236C>T r.(=) p.(=)
?/? c.1345C>G r.(?) p.(Leu449Val)
?/? c.1363C>A r.(?) p.(Pro455Thr)
?/? c.1384C>A r.(?) p.(Pro462Thr)
?/? c.1387G>A r.(?) p.(Glu463Lys)
?/? c.1430+5G>C r.spl? p.?
?/? c.1430+19_1430+21del r.(=) p.(=)
?/? c.1430+27C>T r.(=) p.(=)
?/? c.1430+34G>T r.(=) p.(=)
?/? c.1431-45A>T r.(=) p.(=)
?/? c.1431-21C>A r.(=) p.(=)
?/? c.1503C>T r.(=) p.(=)
?/? c.1536A>T r.(=) p.(=)
?/? c.1550G>A r.(?) p.(Arg517Gln)
?/? c.1561C>T r.(?) p.(Leu521Phe)
?/? c.1588+2T>C r.spl? p.?
?/? c.1588+13A>C r.(=) p.(=)
?/? c.1589-5C>T r.spl? p.?
?/? c.1650T>C r.(=) p.(=)
?/? c.1723-9A>G r.(=) p.(=)
?/? c.1723-4T>A r.spl? p.?
?/? c.1733T>C r.(?) p.(Ile578Thr)
?/? c.1746A>G r.(=) p.(=)
?/? c.1752T>A r.(=) p.(=)
?/? c.1776C>T r.(=) p.(=)
?/? c.1814G>A r.(?) p.(Arg605His)
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