Canonical Allele Identifier: CA349469877
Community Standard Title: NM_001267550.2(TTN):c.94827C>G (p.Tyr31609Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546601G>C , CM000664.2:g.178546601G>C GRCh38
NC_000002.11:g.179411328G>C , CM000664.1:g.179411328G>C GRCh37
NC_000002.10:g.179119574G>C NCBI36
NG_011618.3:g.289202C>G , LRG_391:g.289202C>G
NG_051363.1:g.28775G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.94827C>G (TTN) MANE Select NP_001254479.2:p.Tyr31609Ter
ENST00000589042.5:c.94827C>G (TTN) MANE Select ENSP00000467141.1:p.Tyr31609Ter
NM_001256850.1:c.89904C>G (TTN) NP_001243779.1:p.Tyr29968Ter
NM_003319.4:c.67632C>G (TTN) NP_003310.4:p.Tyr22544Ter
NM_133378.4:c.87123C>G (TTN) NP_596869.4:p.Tyr29041Ter
NM_133432.3:c.68007C>G (TTN) NP_597676.3:p.Tyr22669Ter
NM_133437.4:c.68208C>G (TTN) NP_597681.4:p.Tyr22736Ter
NR_038271.1:n.446+22965G>C (TTN-AS1)
NR_038272.1:n.2043+4240G>C (TTN-AS1)
ENST00000342175.10:c.68208C>G (TTN) ENSP00000340554.6:p.Tyr22736Ter
ENST00000342175.11:c.68208C>G (TTN) ENSP00000340554.6:p.Tyr22736Ter
ENST00000342992.10:c.87123C>G (TTN) ENSP00000343764.6:p.Tyr29041Ter
ENST00000342992.11:c.87123C>G (TTN) ENSP00000343764.6:p.Tyr29041Ter
ENST00000359218.10:c.68007C>G (TTN) ENSP00000352154.5:p.Tyr22669Ter
ENST00000359218.9:c.68007C>G (TTN) ENSP00000352154.5:p.Tyr22669Ter
ENST00000460472.6:c.67632C>G (TTN) ENSP00000434586.1:p.Tyr22544Ter
ENST00000591111.5:c.89904C>G (TTN) ENSP00000465570.1:p.Tyr29968Ter
ENST00000615779.4:c.89904C>G (TTN) ENSP00000483597.1:p.Tyr29968Ter
XM_011511729.1:c.93924C>G (TTN) XP_011510031.1:p.Tyr31308Ter
XM_011511730.1:c.67818C>G (TTN) XP_011510032.1:p.Tyr22606Ter
XM_011511731.1:c.67677C>G (TTN) XP_011510033.1:p.Tyr22559Ter
XM_017004819.1:c.93720C>G (TTN) XP_016860308.1:p.Tyr31240Ter
XM_017004820.1:c.89118C>G (TTN) XP_016860309.1:p.Tyr29706Ter
XM_017004821.1:c.89115C>G (TTN) XP_016860310.1:p.Tyr29705Ter
XM_017004822.1:c.86157C>G (TTN) XP_016860311.1:p.Tyr28719Ter
XM_017004823.1:c.67773C>G (TTN) XP_016860312.1:p.Tyr22591Ter
XM_024453094.1:c.89268C>G (TTN) XP_024308862.1:p.Tyr29756Ter
XM_024453095.1:c.89265C>G (TTN) XP_024308863.1:p.Tyr29755Ter
XM_024453096.1:c.88698C>G (TTN) XP_024308864.1:p.Tyr29566Ter
XM_024453097.1:c.86040C>G (TTN) XP_024308865.1:p.Tyr28680Ter
XM_024453098.1:c.85959C>G (TTN) XP_024308866.1:p.Tyr28653Ter
XM_024453099.1:c.67722C>G (TTN) XP_024308867.1:p.Tyr22574Ter
XM_024453100.1:c.57576C>G (TTN) XP_024308868.1:p.Tyr19192Ter