Canonical Allele Identifier: CA349513908
Community Standard Title: NM_001267550.2(TTN):c.90085G>T (p.Glu30029Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552815C>A , CM000664.2:g.178552815C>A GRCh38
NC_000002.11:g.179417542C>A , CM000664.1:g.179417542C>A GRCh37
NC_000002.10:g.179125788C>A NCBI36
NG_011618.3:g.282988G>T , LRG_391:g.282988G>T
NG_051363.1:g.34989C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.90085G>T (TTN) MANE Select NP_001254479.2:p.Glu30029Ter
ENST00000589042.5:c.90085G>T (TTN) MANE Select ENSP00000467141.1:p.Glu30029Ter
NM_001256850.1:c.85162G>T (TTN) NP_001243779.1:p.Glu28388Ter
NM_003319.4:c.62890G>T (TTN) NP_003310.4:p.Glu20964Ter
NM_133378.4:c.82381G>T (TTN) NP_596869.4:p.Glu27461Ter
NM_133432.3:c.63265G>T (TTN) NP_597676.3:p.Glu21089Ter
NM_133437.4:c.63466G>T (TTN) NP_597681.4:p.Glu21156Ter
NR_038271.1:n.447-18485C>A (TTN-AS1)
NR_038272.1:n.2043+10454C>A (TTN-AS1)
ENST00000342175.10:c.63466G>T (TTN) ENSP00000340554.6:p.Glu21156Ter
ENST00000342175.11:c.63466G>T (TTN) ENSP00000340554.6:p.Glu21156Ter
ENST00000342992.10:c.82381G>T (TTN) ENSP00000343764.6:p.Glu27461Ter
ENST00000342992.11:c.82381G>T (TTN) ENSP00000343764.6:p.Glu27461Ter
ENST00000359218.10:c.63265G>T (TTN) ENSP00000352154.5:p.Glu21089Ter
ENST00000359218.9:c.63265G>T (TTN) ENSP00000352154.5:p.Glu21089Ter
ENST00000460472.6:c.62890G>T (TTN) ENSP00000434586.1:p.Glu20964Ter
ENST00000591111.5:c.85162G>T (TTN) ENSP00000465570.1:p.Glu28388Ter
ENST00000615779.4:c.85162G>T (TTN) ENSP00000483597.1:p.Glu28388Ter
XM_011511729.1:c.89182G>T (TTN) XP_011510031.1:p.Glu29728Ter
XM_011511730.1:c.63076G>T (TTN) XP_011510032.1:p.Glu21026Ter
XM_011511731.1:c.62935G>T (TTN) XP_011510033.1:p.Glu20979Ter
XM_017004819.1:c.88978G>T (TTN) XP_016860308.1:p.Glu29660Ter
XM_017004820.1:c.84376G>T (TTN) XP_016860309.1:p.Glu28126Ter
XM_017004821.1:c.84373G>T (TTN) XP_016860310.1:p.Glu28125Ter
XM_017004822.1:c.81415G>T (TTN) XP_016860311.1:p.Glu27139Ter
XM_017004823.1:c.63031G>T (TTN) XP_016860312.1:p.Glu21011Ter
XM_024453094.1:c.84526G>T (TTN) XP_024308862.1:p.Glu28176Ter
XM_024453095.1:c.84523G>T (TTN) XP_024308863.1:p.Glu28175Ter
XM_024453096.1:c.83956G>T (TTN) XP_024308864.1:p.Glu27986Ter
XM_024453097.1:c.81298G>T (TTN) XP_024308865.1:p.Glu27100Ter
XM_024453098.1:c.81217G>T (TTN) XP_024308866.1:p.Glu27073Ter
XM_024453099.1:c.62980G>T (TTN) XP_024308867.1:p.Glu20994Ter
XM_024453100.1:c.52834G>T (TTN) XP_024308868.1:p.Glu17612Ter