Canonical Allele Identifier: CA349585766
Community Standard Title: NM_001267550.2(TTN):c.80850C>A (p.Tyr26950Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178565282G>T , CM000664.2:g.178565282G>T GRCh38
NC_000002.11:g.179430009G>T , CM000664.1:g.179430009G>T GRCh37
NC_000002.10:g.179138255G>T NCBI36
NG_011618.3:g.270521C>A , LRG_391:g.270521C>A
NG_051363.1:g.47456G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.80850C>A (TTN) MANE Select NP_001254479.2:p.Tyr26950Ter
ENST00000589042.5:c.80850C>A (TTN) MANE Select ENSP00000467141.1:p.Tyr26950Ter
NM_001256850.1:c.75927C>A (TTN) NP_001243779.1:p.Tyr25309Ter
NM_003319.4:c.53655C>A (TTN) NP_003310.4:p.Tyr17885Ter
NM_133378.4:c.73146C>A (TTN) NP_596869.4:p.Tyr24382Ter
NM_133432.3:c.54030C>A (TTN) NP_597676.3:p.Tyr18010Ter
NM_133437.4:c.54231C>A (TTN) NP_597681.4:p.Tyr18077Ter
NR_038271.1:n.447-6018G>T (TTN-AS1)
NR_038272.1:n.2044-17290G>T (TTN-AS1)
ENST00000342175.10:c.54231C>A (TTN) ENSP00000340554.6:p.Tyr18077Ter
ENST00000342175.11:c.54231C>A (TTN) ENSP00000340554.6:p.Tyr18077Ter
ENST00000342992.10:c.73146C>A (TTN) ENSP00000343764.6:p.Tyr24382Ter
ENST00000342992.11:c.73146C>A (TTN) ENSP00000343764.6:p.Tyr24382Ter
ENST00000359218.10:c.54030C>A (TTN) ENSP00000352154.5:p.Tyr18010Ter
ENST00000359218.9:c.54030C>A (TTN) ENSP00000352154.5:p.Tyr18010Ter
ENST00000460472.6:c.53655C>A (TTN) ENSP00000434586.1:p.Tyr17885Ter
ENST00000591111.5:c.75927C>A (TTN) ENSP00000465570.1:p.Tyr25309Ter
ENST00000615779.4:c.75927C>A (TTN) ENSP00000483597.1:p.Tyr25309Ter
XM_011511729.1:c.79947C>A (TTN) XP_011510031.1:p.Tyr26649Ter
XM_011511730.1:c.53841C>A (TTN) XP_011510032.1:p.Tyr17947Ter
XM_011511731.1:c.53700C>A (TTN) XP_011510033.1:p.Tyr17900Ter
XM_017004819.1:c.79743C>A (TTN) XP_016860308.1:p.Tyr26581Ter
XM_017004820.1:c.75141C>A (TTN) XP_016860309.1:p.Tyr25047Ter
XM_017004821.1:c.75138C>A (TTN) XP_016860310.1:p.Tyr25046Ter
XM_017004822.1:c.72180C>A (TTN) XP_016860311.1:p.Tyr24060Ter
XM_017004823.1:c.53796C>A (TTN) XP_016860312.1:p.Tyr17932Ter
XM_024453094.1:c.75291C>A (TTN) XP_024308862.1:p.Tyr25097Ter
XM_024453095.1:c.75288C>A (TTN) XP_024308863.1:p.Tyr25096Ter
XM_024453096.1:c.74721C>A (TTN) XP_024308864.1:p.Tyr24907Ter
XM_024453097.1:c.72063C>A (TTN) XP_024308865.1:p.Tyr24021Ter
XM_024453098.1:c.71982C>A (TTN) XP_024308866.1:p.Tyr23994Ter
XM_024453099.1:c.53745C>A (TTN) XP_024308867.1:p.Tyr17915Ter
XM_024453100.1:c.43599C>A (TTN) XP_024308868.1:p.Tyr14533Ter