Canonical Allele Identifier: CA349402355
Community Standard Title: NM_001267550.2(TTN):c.106978C>T (p.Gln35660Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178528773G>A , CM000664.2:g.178528773G>A GRCh38
NC_000002.11:g.179393500G>A , CM000664.1:g.179393500G>A GRCh37
NC_000002.10:g.179101746G>A NCBI36
NG_011618.3:g.307030C>T , LRG_391:g.307030C>T
NG_051363.1:g.10947G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.106978C>T (TTN) MANE Select NP_001254479.2:p.Gln35660Ter
ENST00000589042.5:c.106978C>T (TTN) MANE Select ENSP00000467141.1:p.Gln35660Ter
NM_001256850.1:c.102055C>T (TTN) NP_001243779.1:p.Gln34019Ter
NM_003319.4:c.79783C>T (TTN) NP_003310.4:p.Gln26595Ter
NM_133378.4:c.99274C>T (TTN) NP_596869.4:p.Gln33092Ter
NM_133432.3:c.80158C>T (TTN) NP_597676.3:p.Gln26720Ter
NM_133437.4:c.80359C>T (TTN) NP_597681.4:p.Gln26787Ter
NR_038271.1:n.446+5137G>A (TTN-AS1)
NR_038272.1:n.219+5137G>A (TTN-AS1)
ENST00000342175.10:c.80359C>T (TTN) ENSP00000340554.6:p.Gln26787Ter
ENST00000342175.11:c.80359C>T (TTN) ENSP00000340554.6:p.Gln26787Ter
ENST00000342992.10:c.99274C>T (TTN) ENSP00000343764.6:p.Gln33092Ter
ENST00000342992.11:c.99274C>T (TTN) ENSP00000343764.6:p.Gln33092Ter
ENST00000359218.10:c.80158C>T (TTN) ENSP00000352154.5:p.Gln26720Ter
ENST00000359218.9:c.80158C>T (TTN) ENSP00000352154.5:p.Gln26720Ter
ENST00000460472.6:c.79783C>T (TTN) ENSP00000434586.1:p.Gln26595Ter
ENST00000591111.5:c.102055C>T (TTN) ENSP00000465570.1:p.Gln34019Ter
ENST00000615779.4:c.102055C>T (TTN) ENSP00000483597.1:p.Gln34019Ter
XM_011511729.1:c.106075C>T (TTN) XP_011510031.1:p.Gln35359Ter
XM_011511730.1:c.79969C>T (TTN) XP_011510032.1:p.Gln26657Ter
XM_011511731.1:c.79828C>T (TTN) XP_011510033.1:p.Gln26610Ter
XM_017004819.1:c.105871C>T (TTN) XP_016860308.1:p.Gln35291Ter
XM_017004820.1:c.101269C>T (TTN) XP_016860309.1:p.Gln33757Ter
XM_017004821.1:c.101266C>T (TTN) XP_016860310.1:p.Gln33756Ter
XM_017004822.1:c.98308C>T (TTN) XP_016860311.1:p.Gln32770Ter
XM_017004823.1:c.79924C>T (TTN) XP_016860312.1:p.Gln26642Ter
XM_024453094.1:c.101419C>T (TTN) XP_024308862.1:p.Gln33807Ter
XM_024453095.1:c.101416C>T (TTN) XP_024308863.1:p.Gln33806Ter
XM_024453096.1:c.100849C>T (TTN) XP_024308864.1:p.Gln33617Ter
XM_024453097.1:c.98191C>T (TTN) XP_024308865.1:p.Gln32731Ter
XM_024453098.1:c.98110C>T (TTN) XP_024308866.1:p.Gln32704Ter
XM_024453099.1:c.79873C>T (TTN) XP_024308867.1:p.Gln26625Ter
XM_024453100.1:c.69727C>T (TTN) XP_024308868.1:p.Gln23243Ter