Canonical Allele Identifier: CA349603223
Community Standard Title: NM_001267550.2(TTN):c.78342T>G (p.Tyr26114Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567790A>C , CM000664.2:g.178567790A>C GRCh38
NC_000002.11:g.179432517A>C , CM000664.1:g.179432517A>C GRCh37
NC_000002.10:g.179140763A>C NCBI36
NG_011618.3:g.268013T>G , LRG_391:g.268013T>G
NG_051363.1:g.49964A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.78342T>G (TTN) MANE Select NP_001254479.2:p.Tyr26114Ter
ENST00000589042.5:c.78342T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr26114Ter
NM_001256850.1:c.73419T>G (TTN) NP_001243779.1:p.Tyr24473Ter
NM_003319.4:c.51147T>G (TTN) NP_003310.4:p.Tyr17049Ter
NM_133378.4:c.70638T>G (TTN) NP_596869.4:p.Tyr23546Ter
NM_133432.3:c.51522T>G (TTN) NP_597676.3:p.Tyr17174Ter
NM_133437.4:c.51723T>G (TTN) NP_597681.4:p.Tyr17241Ter
NR_038271.1:n.447-3510A>C (TTN-AS1)
NR_038272.1:n.2044-14782A>C (TTN-AS1)
ENST00000342175.10:c.51723T>G (TTN) ENSP00000340554.6:p.Tyr17241Ter
ENST00000342175.11:c.51723T>G (TTN) ENSP00000340554.6:p.Tyr17241Ter
ENST00000342992.10:c.70638T>G (TTN) ENSP00000343764.6:p.Tyr23546Ter
ENST00000342992.11:c.70638T>G (TTN) ENSP00000343764.6:p.Tyr23546Ter
ENST00000359218.10:c.51522T>G (TTN) ENSP00000352154.5:p.Tyr17174Ter
ENST00000359218.9:c.51522T>G (TTN) ENSP00000352154.5:p.Tyr17174Ter
ENST00000460472.6:c.51147T>G (TTN) ENSP00000434586.1:p.Tyr17049Ter
ENST00000591111.5:c.73419T>G (TTN) ENSP00000465570.1:p.Tyr24473Ter
ENST00000615779.4:c.73419T>G (TTN) ENSP00000483597.1:p.Tyr24473Ter
XM_011511729.1:c.77439T>G (TTN) XP_011510031.1:p.Tyr25813Ter
XM_011511730.1:c.51333T>G (TTN) XP_011510032.1:p.Tyr17111Ter
XM_011511731.1:c.51192T>G (TTN) XP_011510033.1:p.Tyr17064Ter
XM_017004819.1:c.77235T>G (TTN) XP_016860308.1:p.Tyr25745Ter
XM_017004820.1:c.72633T>G (TTN) XP_016860309.1:p.Tyr24211Ter
XM_017004821.1:c.72630T>G (TTN) XP_016860310.1:p.Tyr24210Ter
XM_017004822.1:c.69672T>G (TTN) XP_016860311.1:p.Tyr23224Ter
XM_017004823.1:c.51288T>G (TTN) XP_016860312.1:p.Tyr17096Ter
XM_024453094.1:c.72783T>G (TTN) XP_024308862.1:p.Tyr24261Ter
XM_024453095.1:c.72780T>G (TTN) XP_024308863.1:p.Tyr24260Ter
XM_024453096.1:c.72213T>G (TTN) XP_024308864.1:p.Tyr24071Ter
XM_024453097.1:c.69555T>G (TTN) XP_024308865.1:p.Tyr23185Ter
XM_024453098.1:c.69474T>G (TTN) XP_024308866.1:p.Tyr23158Ter
XM_024453099.1:c.51237T>G (TTN) XP_024308867.1:p.Tyr17079Ter
XM_024453100.1:c.41091T>G (TTN) XP_024308868.1:p.Tyr13697Ter