Canonical Allele Identifier: CA349603428
Community Standard Title: NM_001267550.2(TTN):c.78249T>G (p.Tyr26083Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567883A>C , CM000664.2:g.178567883A>C GRCh38
NC_000002.11:g.179432610A>C , CM000664.1:g.179432610A>C GRCh37
NC_000002.10:g.179140856A>C NCBI36
NG_011618.3:g.267920T>G , LRG_391:g.267920T>G
NG_051363.1:g.50057A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.78249T>G (TTN) MANE Select NP_001254479.2:p.Tyr26083Ter
ENST00000589042.5:c.78249T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr26083Ter
NM_001256850.1:c.73326T>G (TTN) NP_001243779.1:p.Tyr24442Ter
NM_003319.4:c.51054T>G (TTN) NP_003310.4:p.Tyr17018Ter
NM_133378.4:c.70545T>G (TTN) NP_596869.4:p.Tyr23515Ter
NM_133432.3:c.51429T>G (TTN) NP_597676.3:p.Tyr17143Ter
NM_133437.4:c.51630T>G (TTN) NP_597681.4:p.Tyr17210Ter
NR_038271.1:n.447-3417A>C (TTN-AS1)
NR_038272.1:n.2044-14689A>C (TTN-AS1)
ENST00000342175.10:c.51630T>G (TTN) ENSP00000340554.6:p.Tyr17210Ter
ENST00000342175.11:c.51630T>G (TTN) ENSP00000340554.6:p.Tyr17210Ter
ENST00000342992.10:c.70545T>G (TTN) ENSP00000343764.6:p.Tyr23515Ter
ENST00000342992.11:c.70545T>G (TTN) ENSP00000343764.6:p.Tyr23515Ter
ENST00000359218.10:c.51429T>G (TTN) ENSP00000352154.5:p.Tyr17143Ter
ENST00000359218.9:c.51429T>G (TTN) ENSP00000352154.5:p.Tyr17143Ter
ENST00000460472.6:c.51054T>G (TTN) ENSP00000434586.1:p.Tyr17018Ter
ENST00000591111.5:c.73326T>G (TTN) ENSP00000465570.1:p.Tyr24442Ter
ENST00000615779.4:c.73326T>G (TTN) ENSP00000483597.1:p.Tyr24442Ter
XM_011511729.1:c.77346T>G (TTN) XP_011510031.1:p.Tyr25782Ter
XM_011511730.1:c.51240T>G (TTN) XP_011510032.1:p.Tyr17080Ter
XM_011511731.1:c.51099T>G (TTN) XP_011510033.1:p.Tyr17033Ter
XM_017004819.1:c.77142T>G (TTN) XP_016860308.1:p.Tyr25714Ter
XM_017004820.1:c.72540T>G (TTN) XP_016860309.1:p.Tyr24180Ter
XM_017004821.1:c.72537T>G (TTN) XP_016860310.1:p.Tyr24179Ter
XM_017004822.1:c.69579T>G (TTN) XP_016860311.1:p.Tyr23193Ter
XM_017004823.1:c.51195T>G (TTN) XP_016860312.1:p.Tyr17065Ter
XM_024453094.1:c.72690T>G (TTN) XP_024308862.1:p.Tyr24230Ter
XM_024453095.1:c.72687T>G (TTN) XP_024308863.1:p.Tyr24229Ter
XM_024453096.1:c.72120T>G (TTN) XP_024308864.1:p.Tyr24040Ter
XM_024453097.1:c.69462T>G (TTN) XP_024308865.1:p.Tyr23154Ter
XM_024453098.1:c.69381T>G (TTN) XP_024308866.1:p.Tyr23127Ter
XM_024453099.1:c.51144T>G (TTN) XP_024308867.1:p.Tyr17048Ter
XM_024453100.1:c.40998T>G (TTN) XP_024308868.1:p.Tyr13666Ter