Canonical Allele Identifier: CA349597207
Community Standard Title: NM_001267550.2(TTN):c.79371T>A (p.Tyr26457Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178566761A>T , CM000664.2:g.178566761A>T GRCh38
NC_000002.11:g.179431488A>T , CM000664.1:g.179431488A>T GRCh37
NC_000002.10:g.179139734A>T NCBI36
NG_011618.3:g.269042T>A , LRG_391:g.269042T>A
NG_051363.1:g.48935A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.79371T>A (TTN) MANE Select NP_001254479.2:p.Tyr26457Ter
ENST00000589042.5:c.79371T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr26457Ter
NM_001256850.1:c.74448T>A (TTN) NP_001243779.1:p.Tyr24816Ter
NM_003319.4:c.52176T>A (TTN) NP_003310.4:p.Tyr17392Ter
NM_133378.4:c.71667T>A (TTN) NP_596869.4:p.Tyr23889Ter
NM_133432.3:c.52551T>A (TTN) NP_597676.3:p.Tyr17517Ter
NM_133437.4:c.52752T>A (TTN) NP_597681.4:p.Tyr17584Ter
NR_038271.1:n.447-4539A>T (TTN-AS1)
NR_038272.1:n.2044-15811A>T (TTN-AS1)
ENST00000342175.10:c.52752T>A (TTN) ENSP00000340554.6:p.Tyr17584Ter
ENST00000342175.11:c.52752T>A (TTN) ENSP00000340554.6:p.Tyr17584Ter
ENST00000342992.10:c.71667T>A (TTN) ENSP00000343764.6:p.Tyr23889Ter
ENST00000342992.11:c.71667T>A (TTN) ENSP00000343764.6:p.Tyr23889Ter
ENST00000359218.10:c.52551T>A (TTN) ENSP00000352154.5:p.Tyr17517Ter
ENST00000359218.9:c.52551T>A (TTN) ENSP00000352154.5:p.Tyr17517Ter
ENST00000460472.6:c.52176T>A (TTN) ENSP00000434586.1:p.Tyr17392Ter
ENST00000591111.5:c.74448T>A (TTN) ENSP00000465570.1:p.Tyr24816Ter
ENST00000615779.4:c.74448T>A (TTN) ENSP00000483597.1:p.Tyr24816Ter
XM_011511729.1:c.78468T>A (TTN) XP_011510031.1:p.Tyr26156Ter
XM_011511730.1:c.52362T>A (TTN) XP_011510032.1:p.Tyr17454Ter
XM_011511731.1:c.52221T>A (TTN) XP_011510033.1:p.Tyr17407Ter
XM_017004819.1:c.78264T>A (TTN) XP_016860308.1:p.Tyr26088Ter
XM_017004820.1:c.73662T>A (TTN) XP_016860309.1:p.Tyr24554Ter
XM_017004821.1:c.73659T>A (TTN) XP_016860310.1:p.Tyr24553Ter
XM_017004822.1:c.70701T>A (TTN) XP_016860311.1:p.Tyr23567Ter
XM_017004823.1:c.52317T>A (TTN) XP_016860312.1:p.Tyr17439Ter
XM_024453094.1:c.73812T>A (TTN) XP_024308862.1:p.Tyr24604Ter
XM_024453095.1:c.73809T>A (TTN) XP_024308863.1:p.Tyr24603Ter
XM_024453096.1:c.73242T>A (TTN) XP_024308864.1:p.Tyr24414Ter
XM_024453097.1:c.70584T>A (TTN) XP_024308865.1:p.Tyr23528Ter
XM_024453098.1:c.70503T>A (TTN) XP_024308866.1:p.Tyr23501Ter
XM_024453099.1:c.52266T>A (TTN) XP_024308867.1:p.Tyr17422Ter
XM_024453100.1:c.42120T>A (TTN) XP_024308868.1:p.Tyr14040Ter