Canonical Allele Identifier: CA349668843
Community Standard Title: NM_001267550.2(TTN):c.69379C>T (p.Gln23127Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178576956G>A , CM000664.2:g.178576956G>A GRCh38
NC_000002.11:g.179441683G>A , CM000664.1:g.179441683G>A GRCh37
NC_000002.10:g.179149929G>A NCBI36
NG_011618.3:g.258847C>T , LRG_391:g.258847C>T
NG_051363.1:g.59130G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.69379C>T (TTN) MANE Select NP_001254479.2:p.Gln23127Ter
ENST00000589042.5:c.69379C>T (TTN) MANE Select ENSP00000467141.1:p.Gln23127Ter
NM_001256850.1:c.64456C>T (TTN) NP_001243779.1:p.Gln21486Ter
NM_003319.4:c.42184C>T (TTN) NP_003310.4:p.Gln14062Ter
NM_133378.4:c.61675C>T (TTN) NP_596869.4:p.Gln20559Ter
NM_133432.3:c.42559C>T (TTN) NP_597676.3:p.Gln14187Ter
NM_133437.4:c.42760C>T (TTN) NP_597681.4:p.Gln14254Ter
NR_038271.1:n.596+5507G>A (TTN-AS1)
NR_038272.1:n.2044-5616G>A (TTN-AS1)
ENST00000342175.10:c.42760C>T (TTN) ENSP00000340554.6:p.Gln14254Ter
ENST00000342175.11:c.42760C>T (TTN) ENSP00000340554.6:p.Gln14254Ter
ENST00000342992.10:c.61675C>T (TTN) ENSP00000343764.6:p.Gln20559Ter
ENST00000342992.11:c.61675C>T (TTN) ENSP00000343764.6:p.Gln20559Ter
ENST00000359218.10:c.42559C>T (TTN) ENSP00000352154.5:p.Gln14187Ter
ENST00000359218.9:c.42559C>T (TTN) ENSP00000352154.5:p.Gln14187Ter
ENST00000460472.6:c.42184C>T (TTN) ENSP00000434586.1:p.Gln14062Ter
ENST00000591111.5:c.64456C>T (TTN) ENSP00000465570.1:p.Gln21486Ter
ENST00000615779.4:c.64456C>T (TTN) ENSP00000483597.1:p.Gln21486Ter
XM_011511729.1:c.68476C>T (TTN) XP_011510031.1:p.Gln22826Ter
XM_011511730.1:c.42370C>T (TTN) XP_011510032.1:p.Gln14124Ter
XM_011511731.1:c.42229C>T (TTN) XP_011510033.1:p.Gln14077Ter
XM_017004819.1:c.68272C>T (TTN) XP_016860308.1:p.Gln22758Ter
XM_017004820.1:c.63670C>T (TTN) XP_016860309.1:p.Gln21224Ter
XM_017004821.1:c.63667C>T (TTN) XP_016860310.1:p.Gln21223Ter
XM_017004822.1:c.60709C>T (TTN) XP_016860311.1:p.Gln20237Ter
XM_017004823.1:c.42325C>T (TTN) XP_016860312.1:p.Gln14109Ter
XM_024453094.1:c.63820C>T (TTN) XP_024308862.1:p.Gln21274Ter
XM_024453095.1:c.63817C>T (TTN) XP_024308863.1:p.Gln21273Ter
XM_024453096.1:c.63250C>T (TTN) XP_024308864.1:p.Gln21084Ter
XM_024453097.1:c.60592C>T (TTN) XP_024308865.1:p.Gln20198Ter
XM_024453098.1:c.60511C>T (TTN) XP_024308866.1:p.Gln20171Ter
XM_024453099.1:c.42274C>T (TTN) XP_024308867.1:p.Gln14092Ter
XM_024453100.1:c.32128C>T (TTN) XP_024308868.1:p.Gln10710Ter