Transcript #00001866 (NM_003742.2, ABCB11 gene)

Transcript name ATP-binding cassette, sub-family B (MDR/TAP), member 11
Gene name ABCB11 (ATP-binding cassette, sub-family B (MDR/TAP), member 11)
Chromosome 2
Transcript - NCBI ID NM_003742.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_003733.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

94 entries on 1 page. Showing entries 1 - 94.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.76+152C>T r.(=) p.(=)
-?/. - c.98+10T>G r.(=) p.(=)
?/. - c.127G>A r.(?) p.(Val43Ile)
-?/. - c.127G>A r.(?) p.(Val43Ile)
+?/. - c.192G>A r.(?) p.(Val64=)
?/. - c.206C>T r.(?) p.(Ala69Val)
-?/. - c.270T>C r.(=) p.(=)
-/. - c.270T>C r.(?) p.(Phe90=)
-?/. - c.270T>C r.(=) p.(=)
-/. - c.270T>C r.(?) p.(Phe90=)
+?/. - c.386G>A r.(?) p.(Cys129Tyr)
+?/. - c.386G>A r.(?) p.(Cys129Tyr)
-/. - c.389+8G>A r.(=) p.(=)
-/. - c.389+8G>A r.(=) p.(=)
-?/. - c.477+8G>T r.(=) p.(=)
-?/. - c.499G>T r.(?) p.(Ala167Ser)
?/. - c.500C>T r.(?) p.(Ala167Val)
?/. - c.612-11C>G r.(=) p.(=)
?/. - c.755T>C r.(?) p.(Ile252Thr)
?/. - c.830C>T r.(?) p.(Ala277Val)
?/. - c.851T>C r.(?) p.(Val284Ala)
-?/. - c.862A>G r.(?) p.(Met288Val)
+/. - c.890A>G r.(?) p.(Glu297Gly)
+/. - c.890A>G r.(?) p.(Glu297Gly)
+/. - c.890A>G r.(?) p.(Glu297Gly)
+/. - c.890A>G r.(?) p.(Glu297Gly)
+?/. - c.890A>G r.(?) p.(Asn510Ser)
-?/. - c.902T>C r.(?) p.(Val301Ala)
+?/. - c.908G>T r.(?) p.(Arg303Met)
?/. - c.908+1G>C r.spl? p.?
-/. - c.909-17G>A r.(=) p.(=)
-/. - c.909-15A>G r.(=) p.(=)
-/. - c.909-15A>G r.(=) p.(=)
+/. - c.909-1G>A r.spl? p.?
-/. - c.957A>G r.(=) p.(=)
-/. - c.957A>G r.(?) p.(Gly319=)
-/. - c.957A>G r.(=) p.(=)
-?/. - c.1084-13_1084-12del r.(=) p.(=)
+?/. - c.1243C>T r.(?) p.(Arg415*)
+/. - c.1308+1G>A r.spl? p.?
-?/. - c.1308+12T>C r.(=) p.(=)
-/. - c.1331T>C r.(?) p.(Val444Ala)
+?/. - c.1373G>A r.(?) p.(Gly458Glu)
+/. - c.1408C>T r.(?) p.(Arg470Ter)
+/. - c.1445A>G r.(?) p.(Asp482Gly)
+?/. - c.1445A>G r.(?) p.(Asp482Gly)
+/. - c.1460G>A r.(?) p.(Arg487His)
+/. - c.1460G>A r.(?) p.(Arg487His)
-/. - c.1639-152G>A r.(=) p.(=)
+?/. - c.1709C>T r.(?) p.(Ala570Val)
?/. - c.1723C>T r.(?) p.(Arg575Ter)
+/. - c.1723C>T r.(?) p.(Arg575Ter)
+/. - c.1753G>A r.(?) p.(Ala585Thr)
-?/. - c.1772A>G r.(?) p.(Asn591Ser)
+?/. - c.1907A>G r.(?) p.(Glu636Gly)
-?/. - c.1977G>A r.(?) p.(Gln659=)
-?/. - c.2029A>G r.(?) p.(Met677Val)
-?/. - c.2029A>G r.(?) p.(Met677Val)
-?/. - c.2063A>G r.(?) p.(Gln688Arg)
-?/. - c.2086C>A r.(?) p.(Arg696=)
-?/. - c.2093G>A r.(?) p.(Arg698His)
-?/. - c.2134T>C r.(?) p.(Leu712=)
-/. - c.2134T>C r.(?) p.(Leu712=)
?/. - c.2135T>C r.(?) p.(Leu712Ser)
-/. - c.2179-17C>A r.(=) p.(=)
-/. - c.2179-17C>A r.(=) p.(=)
?/. - c.2188_2189insACGACA r.(?) p.(Asp729_Ile730insAsnAsp)
+/. - c.2324del r.(?) p.(Leu775Tyrfs*29)
-/. - c.2344-17T>C r.(=) p.(=)
-/. - c.2344-17T>C r.(=) p.(=)
-/. - c.2412A>G r.(?) p.(Ala804=)
-/. - c.2594C>T r.(?) p.(Ala865Val)
-?/. - c.2594C>T r.(?) p.(Ala865Val)
?/. - c.2610+4A>C r.spl? p.?
?/. - c.2612C>T r.(?) p.(Ala871Val)
?/. - c.2665G>A r.(?) p.(Ala889Thr)
-?/. - c.2907G>A r.(?) p.(Lys969=)
+?/. - c.3011G>A r.(?) p.(Gly1004Asp)
-/. - c.3084A>G r.(?) p.(Ala1028=)
-/. - c.3084A>G r.(?) p.(Ala1028=)
+?/. - c.3121T>C r.(?) p.(Tyr1041His)
+/. - c.3133A>T r.(?) p.(Lys1045Ter)
-/. - c.3330G>A r.(?) p.(Ala1110=)
+/. - c.3400C>T r.(?) p.(Gln1134Ter)
+/. - c.3457C>T r.(?) p.(Arg1153Cys)
+/. - c.3457C>T r.(?) p.(Arg1153Cys)
+?/. - c.3458G>A r.(?) p.(Arg1153His)
+/. - c.3491del r.(?) p.(Val1164GlyfsTer7)
-?/. - c.3618+19C>T r.(=) p.(=)
+?/. - c.3628A>C r.(?) p.(Thr1210Pro)
+/. - c.3669G>C r.(?) p.(Glu1223Asp)
+?/. - c.3802C>T r.(?) p.(Arg1268Trp)
+?/. - c.3839T>A r.(?) p.(Ile1280Asn)
+/. - c.3904G>T r.(?) p.(Glu1302*)
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