Canonical Allele Identifier: CA2964849467
Community Standard Title: NM_001256012.3(MYH10):c.5046+53C>T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8487380G>A , CM000679.2:g.8487380G>A GRCh38
NC_000017.10:g.8390698G>A , CM000679.1:g.8390698G>A GRCh37
NC_000017.9:g.8331423G>A NCBI36
NG_042305.1:g.148382C>T
NG_042305.2:g.148382C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001256012.3:c.5046+53C>T (MYH10) MANE Select NP_001242941.1:n.5046+53C>T
ENST00000360416.8:c.5046+53C>T (MYH10) MANE Select ENSP00000353590.4:n.5046+53C>T
NM_001256012.1:c.5046+53C>T (MYH10) NP_001242941.1:n.5046+53C>T
NM_001256095.1:c.4980+53C>T (MYH10) NP_001243024.1:n.4980+53C>T
NM_001256095.2:c.4980+53C>T (MYH10) NP_001243024.1:n.4980+53C>T
NM_001375266.1:c.4983+53C>T (MYH10) NP_001362195.1:n.4983+53C>T
NM_005964.3:c.4953+53C>T (MYH10) NP_005955.3:n.4953+53C>T
NM_005964.4:c.4953+53C>T (MYH10) NP_005955.3:n.4953+53C>T
NM_005964.5:c.4953+53C>T (MYH10) NP_005955.3:n.4953+53C>T
ENST00000269243.8:c.4953+53C>T (MYH10) ENSP00000269243.4:n.4953+53C>T
ENST00000360416.7:c.5046+53C>T (MYH10) ENSP00000353590.3:n.5046+53C>T
ENST00000379980.8:c.4980+53C>T (MYH10) ENSP00000369315.5:n.4980+53C>T
ENST00000581679.1:c.418-2867G>A (NDEL1)
ENST00000684843.1:c.4983+53C>T (MYH10) ENSP00000509695.1:n.4983+53C>T
ENST00000685418.1:c.*4250+53C>T (MYH10) ENSP00000510761.1:n.*4250+53C>T
ENST00000685631.1:n.834+53C>T (MYH10)
ENST00000686521.1:n.5289+53C>T (MYH10)
ENST00000686654.1:c.5046+53C>T (MYH10) ENSP00000508862.1:n.5046+53C>T
ENST00000687178.1:c.4980+53C>T (MYH10) ENSP00000509748.1:n.4980+53C>T
ENST00000688497.1:c.*4328+53C>T (MYH10) ENSP00000509831.1:n.*4328+53C>T
ENST00000688902.1:c.5046+53C>T (MYH10) ENSP00000509091.1:n.5046+53C>T
ENST00000691566.1:n.5289+53C>T (MYH10)
ENST00000692077.1:n.5342C>T (MYH10)
ENST00000692526.1:c.4983+53C>T (MYH10) ENSP00000510471.1:n.4983+53C>T
ENST00000693441.1:c.5046+53C>T (MYH10) ENSP00000509241.1:n.5046+53C>T
XM_005256651.2:c.5046+53C>T (MYH10) XP_005256708.1:n.5046+53C>T
XM_011523875.1:c.5136+53C>T (MYH10) XP_011522177.1:n.5136+53C>T
XM_011523875.2:c.5136+53C>T (MYH10) XP_011522177.1:n.5136+53C>T
XM_011523876.1:c.5133+53C>T (MYH10) XP_011522178.1:n.5133+53C>T
XM_011523877.1:c.5106+53C>T (MYH10) XP_011522179.1:n.5106+53C>T
XM_011523878.1:c.5073+53C>T (MYH10) XP_011522180.1:n.5073+53C>T
XM_011523878.2:c.5073+53C>T (MYH10) XP_011522180.1:n.5073+53C>T
XM_011523879.1:c.5070+53C>T (MYH10) XP_011522181.1:n.5070+53C>T
XM_011523879.2:c.5070+53C>T (MYH10) XP_011522181.1:n.5070+53C>T
XM_011523880.1:c.5043+53C>T (MYH10) XP_011522182.1:n.5043+53C>T
XM_011523880.2:c.5043+53C>T (MYH10) XP_011522182.1:n.5043+53C>T
XM_017024677.2:c.4983+53C>T (MYH10) XP_016880166.1:n.4983+53C>T
XM_017024678.1:c.4983+53C>T (MYH10) XP_016880167.1:n.4983+53C>T
XM_017024679.1:c.4983+53C>T (MYH10) XP_016880168.1:n.4983+53C>T
XM_017024680.1:c.4980+53C>T (MYH10) XP_016880169.1:n.4980+53C>T
XM_017024681.1:c.4953+53C>T (MYH10) XP_016880170.1:n.4953+53C>T
XM_017024682.1:c.4953+53C>T (MYH10) XP_016880171.1:n.4953+53C>T