Transcript #00014140 (NM_002472.2, MYH8 gene)

Transcript name myosin, heavy chain 8, skeletal muscle, perinatal
Gene name MYH8 (myosin, heavy chain 8, skeletal muscle, perinatal)
Chromosome 17
Transcript - NCBI ID NM_002472.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_002463.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

49 entries on 1 page. Showing entries 1 - 49.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.143_144del r.(?) p.(Ser48LeufsTer19)
?/. - c.273G>C r.(?) p.(Glu91Asp)
-?/. - c.540C>T r.(?) p.(Thr180=)
-/. - c.675C>T r.(?) p.(Ser225=)
-/. - c.714T>C r.(?) p.(Thr238=)
-/. - c.714T>C r.(?) p.(Thr238=)
-/. - c.891G>A r.(?) p.(Lys297=)
-?/. - c.1148-13T>G r.(=) p.(=)
?/. - c.1209C>A r.(?) p.(Cys403Ter)
-?/. - c.1632T>C r.(?) p.(Pro544=)
-/. - c.1701G>A r.(?) p.(Gln567=)
-/. - c.1907C>T r.(?) p.(Ala636Val)
-/. - c.2016C>T r.(?) p.(Phe672=)
+/. - c.2021G>A r.(?) p.(Arg674Gln)
+/. - c.2021G>A r.(?) p.(Arg674Gln)
-/. - c.2171+17G>A r.(=) p.(=)
?/. - c.3025A>G r.(?) p.(Thr1009Ala)
-/. - c.3117G>A r.(?) p.(Gly1039=)
?/. - c.3254+1G>A r.spl? p.?
-?/. - c.3254+1G>A r.spl? p.?
-/. - c.3270C>T r.(?) p.(Ile1090=)
-/. - c.3270C>T r.(?) p.(Ile1090=)
-?/. - c.3388G>T r.(?) p.(Ala1130Ser)
?/. - c.3416G>A r.(?) p.(Arg1139His)
?/. - c.3514G>T r.(?) p.(Ala1172Ser)
?/. - c.3533G>T r.(?) p.(Arg1178Leu)
-?/. - c.3686T>C r.(?) p.(Met1229Thr)
-?/. - c.3686T>C r.(?) p.(Met1229Thr)
-?/. - c.3686T>C r.(?) p.(Met1229Thr)
-/. - c.3757C>T r.(?) p.(Arg1253Cys)
?/. - c.4003G>A r.(?) p.(Ala1335Thr)
?/. - c.4003G>A r.(?) p.(Ala1335Thr)
-?/. - c.4042G>A r.(?) p.(Glu1348Lys)
+?/. - c.4288G>T r.(?) p.(Asp1430Tyr)
?/. - c.4474G>A r.(?) p.(Glu1492Lys)
-/. - c.4499C>T r.(?) p.(Thr1500Met)
?/. - c.4666C>T r.(?) p.(His1556Tyr)
?/. - c.4738G>A r.(?) p.(Ala1580Thr)
?/. - c.4924_4925del r.(?) p.(Ser1642PhefsTer20)
-/. - c.5074T>C r.(?) p.(Trp1692Arg)
-/. - c.5074T>C r.(?) p.(Trp1692Arg)
?/. - c.5143C>T r.(?) p.(Arg1715Cys)
-/. - c.5208C>T r.(?) p.(Asp1736=)
-/. - c.5208C>T r.(?) p.(Asp1736=)
-?/. - c.5350C>G r.(?) p.(Arg1784Gly)
?/. - c.5435A>G r.(?) p.(Lys1812Arg)
-/. - c.5513A>C r.(?) p.(Glu1838Ala)
-?/. - c.5513A>C r.(?) p.(Glu1838Ala)
-?/. - c.5513A>C r.(?) p.(Glu1838Ala)
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