Transcript #00006789 (NM_001376.4, DYNC1H1 gene)

Transcript name dynein, cytoplasmic 1, heavy chain 1
Gene name DYNC1H1 (dynein, cytoplasmic 1, heavy chain 1)
Chromosome 14
Transcript - NCBI ID NM_001376.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_001367.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

368 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-5A>G r.(?) p.(=)
-/. - c.-5A>G r.(?) p.(=)
-/. - c.46T>C r.(?) p.(Leu16=)
-/. - c.46T>C r.(?) p.(Leu16=)
-?/. - c.78C>T r.(?) p.(Asp26=)
+?/. - c.161_172del r.(?) p.(Ala54_Glu57del)
-?/. - c.257-9G>A r.(=) p.(=)
-?/. - c.264C>T r.(?) p.(Val88=)
-/. - c.306C>T r.(?) p.(Asn102=)
-?/. - c.318C>T r.(?) p.(Asp106=)
-?/. - c.345-10T>G r.(=) p.(=)
-?/. - c.345-10T>G r.(=) p.(=)
-?/. - c.345-10T>G r.(=) p.(=)
-?/. - c.369C>T r.(?) p.(Pro123=)
?/. - c.418C>A r.(?) p.(Leu140Ile)
?/. - c.425A>C r.(?) p.(Glu142Ala)
-?/. - c.519-18T>C r.(=) p.(=)
-?/. - c.561A>G r.(?) p.(Ala187=)
+?/. - c.574G>A r.(?) p.(Gly192Arg)
+/. - c.587T>G r.(?) p.(Leu196Trp)
+?/. - c.592C>A r.(?) p.(Gln198Lys)
-/. - c.624G>A r.(?) p.(Pro208=)
-/. - c.624G>A r.(?) p.(Pro208=)
-/. - c.624G>A r.(?) p.(Pro208=)
?/. - c.668G>A r.(?) p.(Arg223His)
-/. - c.738A>G r.(?) p.(Gln246=)
+/. - c.751C>T r.(?) p.(Arg251Cys)
+/. - c.751C>T r.(?) p.(Arg251Cys)
+/. - c.751C>T r.(?) p.(Arg251Cys)
+/. - c.752G>A r.(?) p.(Arg251His)
+?/. - c.752G>A r.(?) p.(Arg251His)
?/. 5 c.790C>G r.(?) p.(Arg264Gly)
?/. - c.848G>A r.(?) p.(Arg283His)
?/. - c.851C>T r.(?) p.(Ala284Val)
?/. - c.874C>T r.(?) p.(Arg292Trp)
+?/. - c.874C>T r.(?) p.(Arg292Trp)
+?/. - c.874C>T r.(?) p.(Arg292Trp)
+?/. - c.926G>A r.(?) p.(Arg309His)
?/. - c.932A>G r.(?) p.(His311Arg)
-/. - c.962-15dup r.(=) p.(=)
-/. - c.962-15dup r.(=) p.(=)
-?/. - c.962-15dup r.(=) p.(=)
-?/. - c.962-4A>G r.spl? p.?
+?/. - c.1012G>A r.(?) p.(Asp338Asn)
+?/. - c.1103G>A r.(?) p.(Arg368Gln)
+?/. - c.1195A>G r.(?) p.(Arg399Gly)
+?/. - c.1195A>G r.(?) p.(Arg399Gly)
?/. - c.1216T>C r.(?) p.(Tyr406His)
-?/. - c.1292A>G r.(?) p.(Gln431Arg)
?/. - c.1352G>A r.(?) p.(Arg451His)
+?/. - c.1385G>A r.(?) p.(Arg462His)
-?/. - c.1461+17A>G r.(=) p.(=)
?/. 8 c.1505C>T r.(?) p.(Pro502Leu)
?/. - c.1678G>A r.(?) p.(Val560Met)
-?/. - c.1704T>C r.(?) p.(Leu568=)
-?/. - c.1704T>C r.(?) p.(Leu568=)
+/. 8 c.1792C>T r.(?) p.(Arg598Cys)
+/. - c.1792C>T r.(?) p.(Arg598Cys)
+/. - c.1792C>T r.(?) p.(Arg598Cys)
+/. - c.1792C>T r.(?) p.(Arg598Cys)
+/. - c.1792C>T r.(?) p.(Arg598Cys)
+?/. - c.1793G>T r.(?) p.(Arg598Leu)
+?/. - c.1809A>T r.(?) p.(Glu603Asp)
+?/. - c.1814A>G r.(?) p.(Gln605Arg)
+/. - c.1834G>A r.(?) p.(Val612Met)
?/. - c.1843G>A r.(?) p.(Asp615Asn)
?/. - c.1901A>G r.(?) p.(Lys634Arg)
?/. - c.1901del r.(?) p.(Lys634ArgfsTer2)
?/. - c.1963G>A r.(?) p.(Asp655Asn)
?/. - c.1973T>C r.(?) p.(Leu658Pro)
-/. - c.2001T>C r.(?) p.(Asp667=)
?/. - c.2039A>G r.(?) p.(Gln680Arg)
?/. - c.2107G>A r.(?) p.(Ala703Thr)
?/. - c.2107G>A r.(?) p.(Ala703Thr)
-?/. - c.2175T>C r.(?) p.(Val725=)
-?/. - c.2211T>A r.(?) p.(Val737=)
-?/. - c.2211T>A r.(?) p.(Val737=)
+?/. - c.2275C>T r.(?) p.(Arg759Cys)
+?/. - c.2327C>T r.2327c>u p.(Pro776Leu)
+/. - c.2327C>T r.(?) p.(Pro776Leu)
+/. - c.2327C>T r.(?) p.(Pro776Leu)
-?/. - c.2373C>T r.(?) p.(Thr791=)
-/. - c.2511A>G r.(?) p.(Ala837=)
-?/. - c.2511A>G r.(?) p.(Ala837=)
-/. - c.2625G>A r.(?) p.(Ser875=)
-/. - c.2625G>A r.(?) p.(Ser875=)
-/. - c.2719-6C>T r.(=) p.(=)
-?/. - c.2719-6C>T r.(=) p.(=)
-?/. - c.2719-6C>T r.(=) p.(=)
-/. - c.2721T>C r.(?) p.(Ile907=)
?/. - c.2768C>T r.(?) p.(Thr923Met)
?/. - c.2868+5G>A r.spl? p.?
?/. - c.2875G>A r.(?) p.(Val959Ile)
-/. - c.3015+18C>T r.(=) p.(=)
-/. - c.3015+18C>T r.(=) p.(=)
-/. - c.3015+18C>T r.(=) p.(=)
?/. - c.3064G>T r.(?) p.(Ala1022Ser)
-?/. - c.3079C>T r.(?) p.(Pro1027Ser)
?/. - c.3185A>C r.(?) p.(Asp1062Ala)
?/. - c.3187A>G r.(?) p.(Met1063Val)
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