Canonical Allele Identifier: CA084166

Gene: MYH11 NDE1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.[15718337C>T;15721421C>A] , CM000678.2:g.[15718337C>T;15721421C>A]	GRCh38
NC_000016.9:g.[15812194C>T;15815278C>A] , CM000678.1:g.[15812194C>T;15815278C>A]	GRCh37
NC_000016.8:g.[15719695C>T;15722779C>A]	NCBI36
NG_009299.1:g.[140610G>T;143694G>A]
NG_021210.1:g.[80071C>T;83155C>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300036.6:c.[4578+1G>T;5273G>A] (MYH11) MANE Select	ENSP00000300036.5:p.Arg1758Gln
ENST00000396354.6:c.[948-5854C>T;948-2770C>A] (NDE1) MANE Select	ENSP00000379642.1:n.[948-5854C>T;948-2770C>A]
ENST00000452625.7:c.[4599+1G>T;5294G>A] (MYH11) MANE Plus Clinical	ENSP00000407821.2:p.Arg1765Gln
ENST00000572756.6:c.[796-5854C>T;796-2770C>A] (NDE1)	ENSP00000460436.2:n.[796-5854C>T;796-2770C>A]
ENST00000576164.6:n.[382G>T;2227G>A] (MYH11)
ENST00000576790.7:c.[4578+1G>T;5273G>A] (MYH11)	ENSP00000458731.1:p.Arg1758Gln
ENST00000577101.6:c.[1031-5854C>T;1031-2770C>A] (NDE1)	ENSP00000461729.2:n.[1031-5854C>T;1031-2770C>A]
ENST00000652121.1:c.[*2761+1G>T;*3456G>A] (MYH11)	ENSP00000498314.1:n.[*2761+1G>T;*3456G>A]
ENST00000674538.1:c.[796-5854C>T;796-2770C>A] (NDE1)	ENSP00000501547.1:n.[796-5854C>T;796-2770C>A]
ENST00000674554.1:c.[948-5854C>T;948-2770C>A] (NDE1)	ENSP00000502635.1:n.[948-5854C>T;948-2770C>A]
ENST00000674581.1:c.[*7-5854C>T;*7-2770C>A] (NDE1)	ENSP00000502100.1:n.[*7-5854C>T;*7-2770C>A]
ENST00000674588.1:c.[796-5854C>T;796-2770C>A] (NDE1)	ENSP00000502802.1:n.[796-5854C>T;796-2770C>A]
ENST00000674888.1:c.[948-5854C>T;948-2770C>A] (NDE1)	ENSP00000501936.1:n.[948-5854C>T;948-2770C>A]
ENST00000674900.1:c.[*349-5854C>T;*349-2770C>A] (NDE1)	ENSP00000502662.1:n.[*349-5854C>T;*349-2770C>A]
ENST00000674995.1:c.[796-5938C>T;796-2854C>A] (NDE1)	ENSP00000502414.1:n.[796-5938C>T;796-2854C>A]
ENST00000675171.1:c.[*700-5854C>T;*700-2770C>A] (NDE1)	ENSP00000501812.1:n.[*700-5854C>T;*700-2770C>A]
ENST00000675926.1:c.[948-5854C>T;948-2770C>A] (NDE1)	ENSP00000502354.1:n.[948-5854C>T;948-2770C>A]
ENST00000675951.1:c.[948-5854C>T;948-2770C>A] (NDE1)	ENSP00000502160.1:n.[948-5854C>T;948-2770C>A]
ENST00000300036.5:c.[4578+1G>T;5273G>A] (MYH11)	ENSP00000300036.5:p.Arg1758Gln
ENST00000342673.9:c.[948-5854C>T;948-2770C>A] (NDE1)	ENSP00000345892.5:n.[948-5854C>T;948-2770C>A]
ENST00000396324.7:c.[4599+1G>T;5294G>A] (MYH11)	ENSP00000379616.3:p.Arg1765Gln
ENST00000396354.5:c.[948-5854C>T;948-2770C>A] (NDE1)	ENSP00000379642.1:n.[948-5854C>T;948-2770C>A]
ENST00000396355.5:c.[948-5854C>T;948-2770C>A] (NDE1)	ENSP00000379643.1:n.[948-5854C>T;948-2770C>A]
ENST00000452625.6:c.[4599+1G>T;5294G>A] (MYH11)	ENSP00000407821.2:p.Arg1765Gln
ENST00000571275.1:n.[866+1G>T;1561G>A] (MYH11)
ENST00000572967.1:c.[453-5854C>T;453-2770C>A] (NDE1)	ENSP00000459918.1:n.[453-5854C>T;453-2770C>A]
ENST00000573694.5:c.[380-5854C>T;380-2770C>A] (NDE1)
ENST00000576164.5:n.[382G>T;2227G>A] (MYH11)
ENST00000576790.6:c.[4578+1G>T;5273G>A] (MYH11)	ENSP00000458731.1:p.Arg1758Gln
ENST00000616439.4:c.[4599+1G>T;5294G>A] (MYH11)	ENSP00000484924.1:p.Arg1765Gln
NM_001040113.1:c.[4599+1G>T;5294G>A] (MYH11)	NP_001035202.1:p.Arg1765Gln
NM_001040114.1:c.[4599+1G>T;5294G>A] (MYH11)	NP_001035203.1:p.Arg1765Gln
NM_001143979.1:c.[948-5854C>T;948-2770C>A] (NDE1)	NP_001137451.1:n.[948-5854C>T;948-2770C>A]
NM_002474.2:c.[4578+1G>T;5273G>A] (MYH11)	NP_002465.1:p.Arg1758Gln
NM_017668.2:c.[948-5854C>T;948-2770C>A] (NDE1)	NP_060138.1:n.[948-5854C>T;948-2770C>A]
NM_022844.2:c.[4578+1G>T;5273G>A] (MYH11)	NP_074035.1:p.Arg1758Gln
XM_011522502.1:c.[4578+1G>T;5273G>A] (MYH11)	XP_011520804.1:p.Arg1758Gln
XM_011522502.2:c.[4578+1G>T;5273G>A] (MYH11)	XP_011520804.1:p.Arg1758Gln
XM_017023250.1:c.[4599+1G>T;5294G>A] (MYH11)	XP_016878739.1:p.Arg1765Gln
NM_002474.3:c.[4578+1G>T;5273G>A] (MYH11) MANE Select	NP_002465.1:p.Arg1758Gln
NM_017668.3:c.[948-5854C>T;948-2770C>A] (NDE1) MANE Select	NP_060138.1:n.[948-5854C>T;948-2770C>A]
NM_001040113.2:c.[4599+1G>T;5294G>A] (MYH11) MANE Plus Clinical	NP_001035202.1:p.Arg1765Gln
NM_001143979.2:c.[948-5854C>T;948-2770C>A] (NDE1)	NP_001137451.1:n.[948-5854C>T;948-2770C>A]
NM_001040114.2:c.[4599+1G>T;5294G>A] (MYH11)	NP_001035203.1:p.Arg1765Gln
NM_022844.3:c.[4578+1G>T;5273G>A] (MYH11)	NP_074035.1:p.Arg1758Gln