Transcript #00000072

Transcript name ATP-binding cassette, sub-family D (ALD), member 1
Gene name ABCD1 (ATP-binding cassette, sub-family D (ALD), member 1)
Chromosome X
Transcript - NCBI ID NM_000033.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000024.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

87 entries on 1 page. Showing entries 1 - 87.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.38A>C r.(?) p.(Asn13Thr)
?/? c.100C>T r.(?) p.(Pro34Ser)
?/? c.108G>A r.(=) p.(=)
?/? c.258C>T r.(=) p.(=)
?/? c.319C>A r.(?) p.(Leu107Met)
?/? c.321G>A r.(=) p.(=)
?/? c.392G>T r.(?) p.(Gly131Val)
?/? c.420C>A r.(=) p.(=)
?/? c.471A>G r.(=) p.(=)
?/? c.472C>G r.(?) p.(Leu158Val)
?/? c.483G>T r.(=) p.(=)
?/? c.601G>A r.(?) p.(Val201Met)
?/? c.633C>A r.(=) p.(=)
?/? c.696G>T r.(=) p.(=)
?/? c.707G>A r.(?) p.(Arg236His)
?/? c.742G>A r.(?) p.(Gly248Ser)
?/? c.757C>G r.(?) p.(Leu253Val)
?/? c.895C>T r.(?) p.(His299Tyr)
?/? c.901-47C>T r.(=) p.(=)
?/? c.901-22C>T r.(=) p.(=)
?/? c.901-16C>T r.(=) p.(=)
?/? c.901-10C>T r.(=) p.(=)
?/? c.945G>A r.(=) p.(=)
?/? c.971G>A r.(?) p.(Arg324His)
?/? c.1047C>A r.(=) p.(=)
?/? c.1081+21A>T r.(=) p.(=)
?/? c.1081+52C>T r.(=) p.(=)
?/? c.1082-31del r.(=) p.(=)
?/? c.1082-19C>G r.(=) p.(=)
?/? c.1114_1116del r.(?) p.(Lys373del)
?/? c.1117A>G r.(?) p.(Lys373Glu)
?/? c.1165C>T r.(?) p.(Arg389Cys)
?/? c.1197T>C r.(=) p.(=)
?/? c.1212G>A r.(=) p.(=)
?/? c.1215G>A r.(=) p.(=)
?/? c.1224+28C>T r.(=) p.(=)
?/? c.1225-9C>T r.(=) p.(=)
?/? c.1255G>A r.(?) p.(Val419Met)
?/? c.1336G>C r.(?) p.(Gly446Arg)
?/? c.1354C>T r.(?) p.(Arg452Trp)
?/? c.1366C>T r.(?) p.(Arg456Cys)
?/? c.1391G>A r.(?) p.(Arg464Gln)
?/? c.1393+18C>G r.(=) p.(=)
?/? c.1393+31C>T r.(=) p.(=)
?/? c.1393+32G>A r.(=) p.(=)
?/? c.1428C>G r.(?) p.(Cys476Trp)
?/? c.1488+29C>T r.(=) p.(=)
?/? c.1489-34C>T r.(=) p.(=)
?/? c.1489-24C>G r.(=) p.(=)
?/? c.1489-23G>A r.(=) p.(=)
?/? c.1489-17G>C r.(=) p.(=)
?/? c.1489-14T>C r.(=) p.(=)
?/? c.1489-9del r.(=) p.(=)
?/? c.1521C>T r.(=) p.(=)
?/? c.1536C>G r.(=) p.(=)
?/? c.1542C>T r.(=) p.(=)
?/? c.1548G>A r.(=) p.(=)
?/? c.1551C>T r.(=) p.(=)
?/? c.1581C>T r.(=) p.(=)
?/? c.1582G>A r.(?) p.(Gly528Ser)
?/? c.1634+12C>T r.(=) p.(=)
?/? c.1634+24C>T r.(=) p.(=)
?/? c.1634+45C>T r.(=) p.(=)
?/? c.1634+46G>A r.(=) p.(=)
?/? c.1669G>A r.(?) p.(Val557Met)
?/? c.1780+4G>A r.spl? p.?
?/? c.1780+27C>G r.(=) p.(=)
?/? c.1794G>T r.(?) p.(Met598Ile)
?/? c.1810G>A r.(?) p.(Val604Ile)
?/? c.1818G>A r.(=) p.(=)
?/? c.1825G>A r.(?) p.(Glu609Lys)
?/? c.1840G>A r.(?) p.(Gly614Ser)
?/? c.1857_1859del r.(?) p.(Tyr620del)
?/? c.1865+8C>T r.(=) p.(=)
?/? c.1902C>T r.(=) p.(=)
?/? c.1911C>T r.(=) p.(=)
?/? c.1938G>A r.(=) p.(=)
?/? c.1991+17C>T r.(=) p.(=)
?/? c.1991+42_1991+43insG r.(=) p.(=)
?/? c.1992-32C>T r.(=) p.(=)
?/? c.1992-29_1992-28insC r.(=) p.(=)
?/? c.2019C>T r.(=) p.(=)
?/? c.2109G>T r.(=) p.(=)
?/? c.2112G>A r.(=) p.(=)
?/? c.2181G>A r.(=) p.(=)
?/? c.2190G>A r.(=) p.(=)
?/? c.*8G>C r.(=) p.(=)
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