Canonical Allele Identifier: CA349671272
Community Standard Title: NM_001267550.2(TTN):c.68737G>T (p.Glu22913Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178577689C>A , CM000664.2:g.178577689C>A GRCh38
NC_000002.11:g.179442416C>A , CM000664.1:g.179442416C>A GRCh37
NC_000002.10:g.179150662C>A NCBI36
NG_011618.3:g.258114G>T , LRG_391:g.258114G>T
NG_051363.1:g.59863C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.68737G>T (TTN) MANE Select NP_001254479.2:p.Glu22913Ter
ENST00000589042.5:c.68737G>T (TTN) MANE Select ENSP00000467141.1:p.Glu22913Ter
NM_001256850.1:c.63814G>T (TTN) NP_001243779.1:p.Glu21272Ter
NM_003319.4:c.41542G>T (TTN) NP_003310.4:p.Glu13848Ter
NM_133378.4:c.61033G>T (TTN) NP_596869.4:p.Glu20345Ter
NM_133432.3:c.41917G>T (TTN) NP_597676.3:p.Glu13973Ter
NM_133437.4:c.42118G>T (TTN) NP_597681.4:p.Glu14040Ter
NR_038271.1:n.596+6240C>A (TTN-AS1)
NR_038272.1:n.2044-4883C>A (TTN-AS1)
ENST00000342175.10:c.42118G>T (TTN) ENSP00000340554.6:p.Glu14040Ter
ENST00000342175.11:c.42118G>T (TTN) ENSP00000340554.6:p.Glu14040Ter
ENST00000342992.10:c.61033G>T (TTN) ENSP00000343764.6:p.Glu20345Ter
ENST00000342992.11:c.61033G>T (TTN) ENSP00000343764.6:p.Glu20345Ter
ENST00000359218.10:c.41917G>T (TTN) ENSP00000352154.5:p.Glu13973Ter
ENST00000359218.9:c.41917G>T (TTN) ENSP00000352154.5:p.Glu13973Ter
ENST00000460472.6:c.41542G>T (TTN) ENSP00000434586.1:p.Glu13848Ter
ENST00000591111.5:c.63814G>T (TTN) ENSP00000465570.1:p.Glu21272Ter
ENST00000615779.4:c.63814G>T (TTN) ENSP00000483597.1:p.Glu21272Ter
XM_011511729.1:c.67834G>T (TTN) XP_011510031.1:p.Glu22612Ter
XM_011511730.1:c.41728G>T (TTN) XP_011510032.1:p.Glu13910Ter
XM_011511731.1:c.41587G>T (TTN) XP_011510033.1:p.Glu13863Ter
XM_017004819.1:c.67630G>T (TTN) XP_016860308.1:p.Glu22544Ter
XM_017004820.1:c.63028G>T (TTN) XP_016860309.1:p.Glu21010Ter
XM_017004821.1:c.63025G>T (TTN) XP_016860310.1:p.Glu21009Ter
XM_017004822.1:c.60067G>T (TTN) XP_016860311.1:p.Glu20023Ter
XM_017004823.1:c.41683G>T (TTN) XP_016860312.1:p.Glu13895Ter
XM_024453094.1:c.63178G>T (TTN) XP_024308862.1:p.Glu21060Ter
XM_024453095.1:c.63175G>T (TTN) XP_024308863.1:p.Glu21059Ter
XM_024453096.1:c.62608G>T (TTN) XP_024308864.1:p.Glu20870Ter
XM_024453097.1:c.59950G>T (TTN) XP_024308865.1:p.Glu19984Ter
XM_024453098.1:c.59869G>T (TTN) XP_024308866.1:p.Glu19957Ter
XM_024453099.1:c.41632G>T (TTN) XP_024308867.1:p.Glu13878Ter
XM_024453100.1:c.31486G>T (TTN) XP_024308868.1:p.Glu10496Ter