Canonical Allele Identifier: CA394846654

Linked Data

ClinVar Variation Id: 927693
dbSNP Id: rs1443593366

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.15714981C>T , CM000678.2:g.15714981C>T GRCh38
NC_000016.9:g.15808838C>T , CM000678.1:g.15808838C>T GRCh37
NC_000016.8:g.15716339C>T NCBI36
NG_009299.1:g.147050G>A
NG_021210.1:g.76715C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300036.6:c.5714G>A (MYH11) MANE Select ENSP00000300036.5:p.Arg1905Gln
ENST00000396354.6:c.948-9210C>T (NDE1) MANE Select ENSP00000379642.1:n.948-9210C>T
ENST00000452625.7:c.5735G>A (MYH11) MANE Plus Clinical ENSP00000407821.2:p.Arg1912Gln
ENST00000572756.6:c.796-9210C>T (NDE1) ENSP00000460436.2:n.796-9210C>T
ENST00000576164.6:n.3634G>A (MYH11)
ENST00000576790.7:c.5714G>A (MYH11) ENSP00000458731.1:p.Arg1905Gln
ENST00000577101.6:c.1031-9210C>T (NDE1) ENSP00000461729.2:n.1031-9210C>T
ENST00000652121.1:c.*3897G>A (MYH11) ENSP00000498314.1:n.*3897G>A
ENST00000674538.1:c.796-9210C>T (NDE1) ENSP00000501547.1:n.796-9210C>T
ENST00000674554.1:c.948-9210C>T (NDE1) ENSP00000502635.1:n.948-9210C>T
ENST00000674581.1:c.*7-9210C>T (NDE1) ENSP00000502100.1:n.*7-9210C>T
ENST00000674588.1:c.796-9210C>T (NDE1) ENSP00000502802.1:n.796-9210C>T
ENST00000674888.1:c.948-9210C>T (NDE1) ENSP00000501936.1:n.948-9210C>T
ENST00000674900.1:c.*349-9210C>T (NDE1) ENSP00000502662.1:n.*349-9210C>T
ENST00000674995.1:c.796-9294C>T (NDE1) ENSP00000502414.1:n.796-9294C>T
ENST00000675171.1:c.*700-9210C>T (NDE1) ENSP00000501812.1:n.*700-9210C>T
ENST00000675926.1:c.948-9210C>T (NDE1) ENSP00000502354.1:n.948-9210C>T
ENST00000675951.1:c.948-9210C>T (NDE1) ENSP00000502160.1:n.948-9210C>T
ENST00000300036.5:c.5714G>A (MYH11) ENSP00000300036.5:p.Arg1905Gln
ENST00000342673.9:c.948-9210C>T (NDE1) ENSP00000345892.5:n.948-9210C>T
ENST00000396324.7:c.5735G>A (MYH11) ENSP00000379616.3:p.Arg1912Gln
ENST00000396354.5:c.948-9210C>T (NDE1) ENSP00000379642.1:n.948-9210C>T
ENST00000396355.5:c.948-9210C>T (NDE1) ENSP00000379643.1:n.948-9210C>T
ENST00000452625.6:c.5735G>A (MYH11) ENSP00000407821.2:p.Arg1912Gln
ENST00000571275.1:n.2002G>A (MYH11)
ENST00000572967.1:c.453-9210C>T (NDE1) ENSP00000459918.1:n.453-9210C>T
ENST00000573694.5:c.380-9210C>T (NDE1)
ENST00000576164.5:n.3634G>A (MYH11)
ENST00000576790.6:c.5714G>A (MYH11) ENSP00000458731.1:p.Arg1905Gln
ENST00000616439.4:c.5735G>A (MYH11) ENSP00000484924.1:p.Arg1912Gln
NM_001040113.1:c.5735G>A (MYH11) NP_001035202.1:p.Arg1912Gln
NM_001040114.1:c.5735G>A (MYH11) NP_001035203.1:p.Arg1912Gln
NM_001143979.1:c.948-9210C>T (NDE1) NP_001137451.1:n.948-9210C>T
NM_002474.2:c.5714G>A (MYH11) NP_002465.1:p.Arg1905Gln
NM_017668.2:c.948-9210C>T (NDE1) NP_060138.1:n.948-9210C>T
NM_022844.2:c.5714G>A (MYH11) NP_074035.1:p.Arg1905Gln
XM_011522502.1:c.5714G>A (MYH11) XP_011520804.1:p.Arg1905Gln
XM_011522502.2:c.5714G>A (MYH11) XP_011520804.1:p.Arg1905Gln
XM_017023250.1:c.5735G>A (MYH11) XP_016878739.1:p.Arg1912Gln
NM_002474.3:c.5714G>A (MYH11) MANE Select NP_002465.1:p.Arg1905Gln
NM_017668.3:c.948-9210C>T (NDE1) MANE Select NP_060138.1:n.948-9210C>T
NM_001040113.2:c.5735G>A (MYH11) MANE Plus Clinical NP_001035202.1:p.Arg1912Gln
NM_001143979.2:c.948-9210C>T (NDE1) NP_001137451.1:n.948-9210C>T
NM_001040114.2:c.5735G>A (MYH11) NP_001035203.1:p.Arg1912Gln
NM_022844.3:c.5714G>A (MYH11) NP_074035.1:p.Arg1905Gln