Transcript #00001668

Transcript name transcript variant 1
Gene name BRCA1 (breast cancer 1, early onset)
Chromosome 17
Transcript - NCBI ID NM_007294.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_009225.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-19-24A>G r.(=) p.(=)
?/? c.19C>T r.(?) p.(Arg7Cys)
?/? c.20G>A r.(?) p.(Arg7His)
?/? c.21C>T r.(=) p.(=)
?/? c.67G>C r.(?) p.(Glu23Gln)
?/? c.80+51A>G r.(=) p.(=)
?/? c.81-14C>T r.(=) p.(=)
?/? c.81-13C>G r.(=) p.(=)
?/? c.81-12C>G r.(=) p.(=)
?/? c.81-6T>C r.(=) p.(=)
?/? c.135-42G>C r.(=) p.(=)
?/? c.135-27T>A r.(=) p.(=)
?/? c.179A>G r.(?) p.(Gln60Arg)
?/? c.199G>T r.(?) p.(Asp67Tyr)
?/? c.212+17T>C r.(=) p.(=)
?/? c.212+21G>A r.(=) p.(=)
?/? c.212+23T>A r.(=) p.(=)
?/? c.212+36A>T r.(=) p.(=)
?/? c.288C>T r.(=) p.(=)
?/? c.292G>T r.(?) p.(Gly98Cys)
?/? c.301+7G>A r.(=) p.(=)
?/? c.301+8T>C r.(=) p.(=)
?/? c.314A>G r.(?) p.(Tyr105Cys)
?/? c.380G>A r.(?) p.(Ser127Asn)
?/? c.441+17T>C r.(=) p.(=)
?/? c.441+18C>T r.(=) p.(=)
?/? c.442-34C>T r.(=) p.(=)
?/? c.528G>A r.(=) p.(=)
?/? c.536A>G r.(?) p.(Tyr179Cys)
?/? c.547+49T>C r.(=) p.(=)
?/? c.548-58del r.(=) p.(=)
?/? c.548-9del r.(=) p.(=)
?/? c.557C>A r.(?) p.(Ser186Tyr)
?/? c.571G>A r.(?) p.(Val191Ile)
?/? c.591C>T r.(=) p.(=)
?/? c.593+3G>A r.spl? p.?
?/? c.593+9A>G r.(=) p.(=)
?/? c.594-34T>C r.(=) p.(=)
?/? c.594-2A>C r.spl? p.?
?/? c.641A>G r.(?) p.(Asp214Gly)
?/? c.661G>T r.(?) p.(Ala221Ser)
?/? c.670+16G>A r.(=) p.(=)
?/? c.670+26C>G r.(=) p.(=)
?/? c.736T>G r.(?) p.(Leu246Val)
?/? c.765G>A r.(=) p.(=)
?/? c.807G>A r.(=) p.(=)
?/? c.879T>G r.(=) p.(=)
?/? c.890T>A r.(?) p.(Met297Lys)
?/? c.946A>G r.(?) p.(Ser316Gly)
?/? c.981A>G r.(=) p.(=)
?/? c.1001C>T r.(?) p.(Pro334Leu)
?/? c.1065G>A r.(=) p.(=)
?/? c.1067A>G r.(?) p.(Gln356Arg)
?/? c.1072C>T r.(=) p.(=)
?/? c.1117A>G r.(?) p.(Ile373Val)
?/? c.1137T>G r.(?) p.(Ile379Met)
?/? c.1209T>C r.(=) p.(=)
?/? c.1225G>C r.(?) p.(Val409Leu)
?/? c.1227A>G r.(=) p.(=)
?/? c.1233T>G r.(?) p.(Asp411Glu)
?/? c.1242C>T r.(=) p.(=)
?/? c.1258G>T r.(?) p.(Asp420Tyr)
?/? c.1361G>A r.(?) p.(Ser454Asn)
?/? c.1381T>C r.(?) p.(Phe461Leu)
?/? c.1384G>A r.(?) p.(Gly462Arg)
?/? c.1418A>G r.(?) p.(Asn473Ser)
?/? c.1427A>G r.(?) p.(His476Arg)
?/? c.1456T>C r.(?) p.(Phe486Leu)
?/? c.1459G>T r.(?) p.(Val487Phe)
?/? c.1486C>T r.(?) p.(Arg496Cys)
?/? c.1487G>A r.(?) p.(Arg496His)
?/? c.1508A>G r.(?) p.(Lys503Arg)
?/? c.1510C>T r.(?) p.(Arg504Cys)
?/? c.1511G>A r.(?) p.(Arg504His)
?/? c.1561G>A r.(?) p.(Ala521Thr)
?/? c.1573G>A r.(?) p.(Val525Ile)
?/? c.1600C>G r.(?) p.(Gln534Glu)
?/? c.1616C>T r.(?) p.(Thr539Met)
?/? c.1617G>A r.(=) p.(=)
?/? c.1648A>C r.(?) p.(Asn550His)
?/? c.1747A>G r.(?) p.(Lys583Glu)
?/? c.1789G>A r.(?) p.(Glu597Lys)
?/? c.1802A>G r.(?) p.(His601Arg)
?/? c.1846_1848del r.(?) p.(Ser616del)
?/? c.1865C>T r.(?) p.(Ala622Val)
?/? c.1878A>G r.(=) p.(=)
?/? c.1881C>G r.(=) p.(=)
?/? c.1905T>C r.(=) p.(=)
?/? c.1971A>G r.(=) p.(=)
?/? c.1974G>C r.(?) p.(Met658Ile)
?/? c.2043T>G r.(?) p.(Ser681Arg)
?/? c.2077G>A r.(?) p.(Asp693Asn)
?/? c.2082C>T r.(=) p.(=)
?/? c.2083G>T r.(?) p.(Asp695Tyr)
?/? c.2109A>G r.(=) p.(=)
?/? c.2155A>G r.(?) p.(Lys719Glu)
?/? c.2167A>G r.(?) p.(Asn723Asp)
?/? c.2232T>C r.(=) p.(=)
?/? c.2306T>A r.(?) p.(Ile769Asn)
?/? c.2311T>C r.(=) p.(=)
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