Transcript #00014138

Transcript name myosin, heavy chain 7, cardiac muscle, beta
Gene name MYH7 (myosin, heavy chain 7, cardiac muscle, beta)
Chromosome 14
Transcript - NCBI ID NM_000257.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000248.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

1715 entries on 18 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-36C>T r.(?) p.(=)
-?/. - c.-8-104T>C r.(=) p.(=)
-/. - c.-8-25G>T r.(=) p.(=)
-/. - c.-8-25G>T r.(=) p.(=)
-/. 3 c.8A>C r.(?) p.(Asp3Ala)
?/. - c.11C>T r.(?) p.(Ser4Leu)
+/. 3 c.11C>T r.(?) p.(Ser4Leu)
-/. - c.12G>A r.(?) p.(Ser4=)
+/. 3 c.29_31del r.(?) p.(Gly10del)
+/. 3 c.37G>A r.(?) p.(Ala13Thr)
?/. - c.49C>T r.(?) p.(Arg17Cys)
?/. - c.50G>A r.(?) p.(Arg17His)
?/. 2 c.50G>A r.(?) p.(Arg17His)
?/. - c.58G>A r.(?) p.(Glu20Lys)
?/. - c.67C>T r.(?) p.(Arg23Trp)
?/. - c.67C>T r.(?) p.(Arg23Trp)
-?/. - c.77C>T r.(?) p.(Ala26Val)
?/. - c.77C>T r.(?) p.(Ala26Val)
+/. 3 c.77C>T r.(?) p.(Ala26Val)
?/. - c.77C>T r.(?) p.(Ala26Val)
?/. - c.77C>T r.(?) p.(Ala26Val)
+?/. 3 c.77C>T r.(?) p.(Ala26Val)
+/. 3 c.77C>T r.(?) p.(Ala26Val)
+?/. - c.77C>T r.(?) p.(Ala26Val)
?/. - c.97C>G r.(?) p.(Leu33Val)
?/. - c.115G>A r.(?) p.(Val39Met)
+/. 3 c.115G>A r.(?) p.(Val39Met)
?/. - c.115G>A r.(?) p.(Val39Met)
?/. - c.121G>A r.(?) p.(Asp41Asn)
?/. - c.121G>A r.(?) p.(Asp41Asn)
-?/. - c.153C>T r.(?) p.(Ile51=)
-?/. - c.153C>T r.(?) p.(Ile51=)
-/. 3 c.160C>T r.(?) p.(Arg54*)
?/. - c.161G>A r.(?) p.(Arg54Gln)
+?/. 2 c.161G>T r.(?) p.(Arg54Leu)
+?/. - c.173A>G r.(?) p.(Lys58Arg)
+/. 3 c.175G>A r.(?) p.(Val59Ile)
?/. - c.185A>G r.(?) p.(Glu62Gly)
-/. - c.189C>T r.(?) p.(Thr63=)
-/. - c.189C>T r.(?) p.(Thr63=)
-/. - c.189C>T r.(?) p.(Thr63=)
-/. - c.189C>T r.(?) p.(Thr63=)
-/. - c.189C>T r.(?) p.(Thr63=)
-?/. - c.201+8T>A r.(=) p.(=)
-?/. - c.201+8T>A r.(=) p.(=)
-?/. - c.201+8T>A r.(=) p.(=)
-/. - c.201+121T>C r.(=) p.(=)
-?/. - c.202-26G>A r.(=) p.(=)
-?/. - c.202-8_202-7insG r.(=) p.(=)
+/. 4 c.241C>T r.(?) p.(Pro81Ser)
-?/. - c.252C>T r.(?) p.(Phe84=)
-?/. - c.261C>T r.(?) p.(Ile87=)
?/. - c.266A>G r.(?) p.(Asp89Gly)
?/. - c.287T>A r.(?) p.(Leu96Gln)
+/. - c.287T>A r.(?) p.(Leu96Gln)
?/. - c.295C>G r.(?) p.(Pro99Ala)
-?/. - c.297C>T r.(?) p.(Pro99=)
-/. - c.297C>T r.(?) p.(Pro99=)
-?/. - c.297C>T r.(?) p.(Pro99=)
?/. - c.298G>A r.(?) p.(Ala100Thr)
?/. 3 c.298G>A r.(?) p.(Ala100Thr)
-/. 4 c.321T>G r.(?) p.(Asp107Glu)
-/. - c.327C>T r.(?) p.(Tyr109=)
?/. - c.327_328dup r.(?) p.(Gly110AlafsTer5)
?/. - c.328G>A r.(?) p.(Gly110Ser)
?/. - c.328G>A r.(?) p.(Gly110Ser)
?/. - c.328G>A r.(?) p.(Gly110Ser)
?/. - c.331_332del r.(?) p.(Ser111LeufsTer26)
+/. 4 c.343T>C r.(?) p.(Tyr115His)
?/. - c.345C>T r.(?) p.(Tyr115=)
-?/. - c.345C>T r.(?) p.(Tyr115=)
-?/. - c.345C>T r.(?) p.(Tyr115=)
-/. - c.345+24G>A r.(=) p.(=)
-?/. - c.345+24G>A r.(=) p.(=)
-/. - c.346-17T>C r.(=) p.(=)
-?/. - c.354G>A r.(?) p.(Ser118=)
-/. - c.354G>A r.(?) p.(Ser118=)
+/. 5 c.371C>T r.(?) p.(Thr124Ile)
+/. 5 c.371C>T r.(?) p.(Thr124Ile)
+?/. - c.415G>T r.(?) p.(Val139Leu)
+/. 5 c.424T>C r.(?) p.(Tyr142His)
+/. 5 c.427C>G r.(?) p.(Arg143Gly)
+/. 5 c.427C>T r.(?) p.(Arg143Trp)
+/. 5 c.428G>A r.(?) p.(Arg143Gln)
+/. 5 c.428G>A r.(?) p.(Arg143Gln)
+?/. - c.430G>A r.(?) p.(Gly144Ser)
+?/. - c.430G>A r.(?) p.(Gly144Ser)
+/. 5 c.438G>T r.(?) p.(Lys146Asn)
+/. 5 c.443G>T r.(?) p.(Ser148Ile)
-?/. - c.444C>A r.(?) p.(Ser148Arg)
-?/. - c.444C>T r.(?) p.(Ser148=)
+?/. - c.445G>A r.(?) p.(Glu149Lys)
?/. - c.449C>G r.(?) p.(Ala150Gly)
+?/. - c.452C>T r.(?) p.(Pro151Leu)
-/. - c.480C>T r.(?) p.(Asn160=)
-/. - c.480C>T r.(?) p.(Asn160=)
-/. - c.480C>T r.(?) p.(Asn160=)
-/. - c.480C>T r.(?) p.(Asn160=)
-?/. - c.480C>T r.(?) p.(Asn160=)
?/. - c.481G>C r.(?) p.(Ala161Pro)
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