Canonical Allele Identifier: CA349417307
Community Standard Title: NM_001267550.2(TTN):c.102541G>T (p.Glu34181Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534074C>A , CM000664.2:g.178534074C>A GRCh38
NC_000002.11:g.179398801C>A , CM000664.1:g.179398801C>A GRCh37
NC_000002.10:g.179107047C>A NCBI36
NG_011618.3:g.301729G>T , LRG_391:g.301729G>T
NG_051363.1:g.16248C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.102541G>T (TTN) MANE Select NP_001254479.2:p.Glu34181Ter
ENST00000589042.5:c.102541G>T (TTN) MANE Select ENSP00000467141.1:p.Glu34181Ter
NM_001256850.1:c.97618G>T (TTN) NP_001243779.1:p.Glu32540Ter
NM_003319.4:c.75346G>T (TTN) NP_003310.4:p.Glu25116Ter
NM_133378.4:c.94837G>T (TTN) NP_596869.4:p.Glu31613Ter
NM_133432.3:c.75721G>T (TTN) NP_597676.3:p.Glu25241Ter
NM_133437.4:c.75922G>T (TTN) NP_597681.4:p.Glu25308Ter
NR_038271.1:n.446+10438C>A (TTN-AS1)
NR_038272.1:n.220-1658C>A (TTN-AS1)
ENST00000342175.10:c.75922G>T (TTN) ENSP00000340554.6:p.Glu25308Ter
ENST00000342175.11:c.75922G>T (TTN) ENSP00000340554.6:p.Glu25308Ter
ENST00000342992.10:c.94837G>T (TTN) ENSP00000343764.6:p.Glu31613Ter
ENST00000342992.11:c.94837G>T (TTN) ENSP00000343764.6:p.Glu31613Ter
ENST00000359218.10:c.75721G>T (TTN) ENSP00000352154.5:p.Glu25241Ter
ENST00000359218.9:c.75721G>T (TTN) ENSP00000352154.5:p.Glu25241Ter
ENST00000460472.6:c.75346G>T (TTN) ENSP00000434586.1:p.Glu25116Ter
ENST00000591111.5:c.97618G>T (TTN) ENSP00000465570.1:p.Glu32540Ter
ENST00000615779.4:c.97618G>T (TTN) ENSP00000483597.1:p.Glu32540Ter
XM_011511729.1:c.101638G>T (TTN) XP_011510031.1:p.Glu33880Ter
XM_011511730.1:c.75532G>T (TTN) XP_011510032.1:p.Glu25178Ter
XM_011511731.1:c.75391G>T (TTN) XP_011510033.1:p.Glu25131Ter
XM_017004819.1:c.101434G>T (TTN) XP_016860308.1:p.Glu33812Ter
XM_017004820.1:c.96832G>T (TTN) XP_016860309.1:p.Glu32278Ter
XM_017004821.1:c.96829G>T (TTN) XP_016860310.1:p.Glu32277Ter
XM_017004822.1:c.93871G>T (TTN) XP_016860311.1:p.Glu31291Ter
XM_017004823.1:c.75487G>T (TTN) XP_016860312.1:p.Glu25163Ter
XM_024453094.1:c.96982G>T (TTN) XP_024308862.1:p.Glu32328Ter
XM_024453095.1:c.96979G>T (TTN) XP_024308863.1:p.Glu32327Ter
XM_024453096.1:c.96412G>T (TTN) XP_024308864.1:p.Glu32138Ter
XM_024453097.1:c.93754G>T (TTN) XP_024308865.1:p.Glu31252Ter
XM_024453098.1:c.93673G>T (TTN) XP_024308866.1:p.Glu31225Ter
XM_024453099.1:c.75436G>T (TTN) XP_024308867.1:p.Glu25146Ter
XM_024453100.1:c.65290G>T (TTN) XP_024308868.1:p.Glu21764Ter