Canonical Allele Identifier: CA349406699
Community Standard Title: NM_001267550.2(TTN):c.106189C>T (p.Gln35397Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530426G>A , CM000664.2:g.178530426G>A GRCh38
NC_000002.11:g.179395153G>A , CM000664.1:g.179395153G>A GRCh37
NC_000002.10:g.179103399G>A NCBI36
NG_011618.3:g.305377C>T , LRG_391:g.305377C>T
NG_051363.1:g.12600G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.106189C>T (TTN) MANE Select NP_001254479.2:p.Gln35397Ter
ENST00000589042.5:c.106189C>T (TTN) MANE Select ENSP00000467141.1:p.Gln35397Ter
NM_001256850.1:c.101266C>T (TTN) NP_001243779.1:p.Gln33756Ter
NM_003319.4:c.78994C>T (TTN) NP_003310.4:p.Gln26332Ter
NM_133378.4:c.98485C>T (TTN) NP_596869.4:p.Gln32829Ter
NM_133432.3:c.79369C>T (TTN) NP_597676.3:p.Gln26457Ter
NM_133437.4:c.79570C>T (TTN) NP_597681.4:p.Gln26524Ter
NR_038271.1:n.446+6790G>A (TTN-AS1)
NR_038272.1:n.220-5306G>A (TTN-AS1)
ENST00000342175.10:c.79570C>T (TTN) ENSP00000340554.6:p.Gln26524Ter
ENST00000342175.11:c.79570C>T (TTN) ENSP00000340554.6:p.Gln26524Ter
ENST00000342992.10:c.98485C>T (TTN) ENSP00000343764.6:p.Gln32829Ter
ENST00000342992.11:c.98485C>T (TTN) ENSP00000343764.6:p.Gln32829Ter
ENST00000359218.10:c.79369C>T (TTN) ENSP00000352154.5:p.Gln26457Ter
ENST00000359218.9:c.79369C>T (TTN) ENSP00000352154.5:p.Gln26457Ter
ENST00000460472.6:c.78994C>T (TTN) ENSP00000434586.1:p.Gln26332Ter
ENST00000591111.5:c.101266C>T (TTN) ENSP00000465570.1:p.Gln33756Ter
ENST00000615779.4:c.101266C>T (TTN) ENSP00000483597.1:p.Gln33756Ter
XM_011511729.1:c.105286C>T (TTN) XP_011510031.1:p.Gln35096Ter
XM_011511730.1:c.79180C>T (TTN) XP_011510032.1:p.Gln26394Ter
XM_011511731.1:c.79039C>T (TTN) XP_011510033.1:p.Gln26347Ter
XM_017004819.1:c.105082C>T (TTN) XP_016860308.1:p.Gln35028Ter
XM_017004820.1:c.100480C>T (TTN) XP_016860309.1:p.Gln33494Ter
XM_017004821.1:c.100477C>T (TTN) XP_016860310.1:p.Gln33493Ter
XM_017004822.1:c.97519C>T (TTN) XP_016860311.1:p.Gln32507Ter
XM_017004823.1:c.79135C>T (TTN) XP_016860312.1:p.Gln26379Ter
XM_024453094.1:c.100630C>T (TTN) XP_024308862.1:p.Gln33544Ter
XM_024453095.1:c.100627C>T (TTN) XP_024308863.1:p.Gln33543Ter
XM_024453096.1:c.100060C>T (TTN) XP_024308864.1:p.Gln33354Ter
XM_024453097.1:c.97402C>T (TTN) XP_024308865.1:p.Gln32468Ter
XM_024453098.1:c.97321C>T (TTN) XP_024308866.1:p.Gln32441Ter
XM_024453099.1:c.79084C>T (TTN) XP_024308867.1:p.Gln26362Ter
XM_024453100.1:c.68938C>T (TTN) XP_024308868.1:p.Gln22980Ter