Canonical Allele Identifier: CA1998509
Community Standard Title: NM_001267550.2(TTN):c.32837A>T (p.Glu10946Val)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178683261T>A , CM000664.2:g.178683261T>A GRCh38
NC_000002.11:g.179547988T>A , CM000664.1:g.179547988T>A GRCh37
NC_000002.10:g.179256233T>A NCBI36
NG_011618.3:g.152542A>T , LRG_391:g.152542A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.32837A>T MANE Select NP_001254479.2:p.Glu10946Val
ENST00000589042.5:c.32837A>T MANE Select ENSP00000467141.1:p.Glu10946Val
NM_001256850.1:c.31886A>T NP_001243779.1:p.Glu10629Val
NM_003319.4:c.13283-40944A>T NP_003310.4:n.13283-40944A>T
NM_133378.4:c.29105A>T NP_596869.4:p.Glu9702Val
NM_133432.3:c.13658-40944A>T NP_597676.3:n.13658-40944A>T
NM_133437.4:c.13859-40944A>T NP_597681.4:n.13859-40944A>T
ENST00000342175.10:c.13859-40944A>T ENSP00000340554.6:n.13859-40944A>T
ENST00000342175.11:c.13859-40944A>T ENSP00000340554.6:n.13859-40944A>T
ENST00000342992.10:c.29105A>T ENSP00000343764.6:p.Glu9702Val
ENST00000342992.11:c.29105A>T ENSP00000343764.6:p.Glu9702Val
ENST00000359218.10:c.13658-40944A>T ENSP00000352154.5:n.13658-40944A>T
ENST00000359218.9:c.13658-40944A>T ENSP00000352154.5:n.13658-40944A>T
ENST00000414766.5:c.1730-358A>T ENSP00000401501.1:n.1730-358A>T
ENST00000460472.6:c.13283-40944A>T ENSP00000434586.1:n.13283-40944A>T
ENST00000591111.5:c.31886A>T ENSP00000465570.1:p.Glu10629Val
ENST00000615779.4:c.31886A>T ENSP00000483597.1:p.Glu10629Val
XM_011511729.1:c.31934A>T XP_011510031.1:p.Glu10645Val
XM_011511730.1:c.13469-40944A>T XP_011510032.1:n.13469-40944A>T
XM_011511731.1:c.13328-40944A>T XP_011510033.1:n.13328-40944A>T
XM_017004819.1:c.31889A>T XP_016860308.1:p.Glu10630Val
XM_017004820.1:c.29108A>T XP_016860309.1:p.Glu9703Val
XM_017004821.1:c.29105A>T XP_016860310.1:p.Glu9702Val
XM_017004822.1:c.31148-358A>T XP_016860311.1:n.31148-358A>T
XM_017004823.1:c.13424-40944A>T XP_016860312.1:n.13424-40944A>T
XM_024453094.1:c.31889A>T XP_024308862.1:p.Glu10630Val
XM_024453095.1:c.31889A>T XP_024308863.1:p.Glu10630Val
XM_024453096.1:c.31889A>T XP_024308864.1:p.Glu10630Val
XM_024453097.1:c.30929A>T XP_024308865.1:p.Glu10310Val
XM_024453098.1:c.30899-358A>T XP_024308866.1:n.30899-358A>T
XM_024453099.1:c.13424-40944A>T XP_024308867.1:n.13424-40944A>T