Canonical Allele Identifier: CA394857280

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.15724286C>A , CM000678.2:g.15724286C>A GRCh38
NC_000016.9:g.15818143C>A , CM000678.1:g.15818143C>A GRCh37
NC_000016.8:g.15725644C>A NCBI36
NG_009299.1:g.137745G>T
NG_021210.1:g.86020C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300036.6:c.4240G>T (MYH11) MANE Select ENSP00000300036.5:p.Ala1414Ser
ENST00000396354.6:c.*35C>A (NDE1) MANE Select ENSP00000379642.1:n.*35C>A
ENST00000452625.7:c.4261G>T (MYH11) MANE Plus Clinical ENSP00000407821.2:p.Ala1421Ser
ENST00000576164.6:n.43G>T (MYH11)
ENST00000576790.7:c.4240G>T (MYH11) ENSP00000458731.1:p.Ala1414Ser
ENST00000577101.6:c.1126C>A (NDE1) ENSP00000461729.2:p.Arg376=
ENST00000652121.1:c.*2423G>T (MYH11) ENSP00000498314.1:n.*2423G>T
ENST00000674538.1:c.891C>A (NDE1) ENSP00000501547.1:p.Ser297Arg
ENST00000674554.1:c.*35C>A (NDE1) ENSP00000502635.1:n.*35C>A
ENST00000674581.1:c.*102C>A (NDE1) ENSP00000502100.1:n.*102C>A
ENST00000674588.1:c.891C>A (NDE1) ENSP00000502802.1:p.Ser297Arg
ENST00000674888.1:c.*35C>A (NDE1) ENSP00000501936.1:n.*35C>A
ENST00000674900.1:c.*444C>A (NDE1) ENSP00000502662.1:n.*444C>A
ENST00000674995.1:c.807C>A (NDE1) ENSP00000502414.1:p.Ser269Arg
ENST00000675171.1:c.*795C>A (NDE1) ENSP00000501812.1:n.*795C>A
ENST00000675926.1:c.*35C>A (NDE1) ENSP00000502354.1:n.*35C>A
ENST00000675951.1:c.*35C>A (NDE1) ENSP00000502160.1:n.*35C>A
ENST00000300036.5:c.4240G>T (MYH11) ENSP00000300036.5:p.Ala1414Ser
ENST00000342673.9:c.*35C>A (NDE1) ENSP00000345892.5:n.*35C>A
ENST00000396324.7:c.4261G>T (MYH11) ENSP00000379616.3:p.Ala1421Ser
ENST00000396354.5:c.*35C>A (NDE1) ENSP00000379642.1:n.*35C>A
ENST00000396355.5:c.*35C>A (NDE1) ENSP00000379643.1:n.*35C>A
ENST00000452625.6:c.4261G>T (MYH11) ENSP00000407821.2:p.Ala1421Ser
ENST00000571275.1:n.528G>T (MYH11)
ENST00000572503.1:n.280C>A (NDE1)
ENST00000576164.5:n.43G>T (MYH11)
ENST00000576790.6:c.4240G>T (MYH11) ENSP00000458731.1:p.Ala1414Ser
ENST00000616439.4:c.4261G>T (MYH11) ENSP00000484924.1:p.Ala1421Ser
NM_001040113.1:c.4261G>T (MYH11) NP_001035202.1:p.Ala1421Ser
NM_001040114.1:c.4261G>T (MYH11) NP_001035203.1:p.Ala1421Ser
NM_001143979.1:c.*35C>A (NDE1) NP_001137451.1:n.*35C>A
NM_002474.2:c.4240G>T (MYH11) NP_002465.1:p.Ala1414Ser
NM_017668.2:c.*35C>A (NDE1) NP_060138.1:n.*35C>A
NM_022844.2:c.4240G>T (MYH11) NP_074035.1:p.Ala1414Ser
XM_011522502.1:c.4240G>T (MYH11) XP_011520804.1:p.Ala1414Ser
XM_011522502.2:c.4240G>T (MYH11) XP_011520804.1:p.Ala1414Ser
XM_017023250.1:c.4261G>T (MYH11) XP_016878739.1:p.Ala1421Ser
NM_002474.3:c.4240G>T (MYH11) MANE Select NP_002465.1:p.Ala1414Ser
NM_017668.3:c.*35C>A (NDE1) MANE Select NP_060138.1:n.*35C>A
NM_001040113.2:c.4261G>T (MYH11) MANE Plus Clinical NP_001035202.1:p.Ala1421Ser
NM_001143979.2:c.*35C>A (NDE1) NP_001137451.1:n.*35C>A
NM_001040114.2:c.4261G>T (MYH11) NP_001035203.1:p.Ala1421Ser
NM_022844.3:c.4240G>T (MYH11) NP_074035.1:p.Ala1414Ser