Canonical Allele Identifier: CA349473197
Community Standard Title: NM_001267550.2(TTN):c.61369G>T (p.Glu20457Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178590356C>A , CM000664.2:g.178590356C>A GRCh38
NC_000002.11:g.179455083C>A , CM000664.1:g.179455083C>A GRCh37
NC_000002.10:g.179163329C>A NCBI36
NG_011618.3:g.245447G>T , LRG_391:g.245447G>T
NG_051363.1:g.72530C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.61369G>T (TTN) MANE Select NP_001254479.2:p.Glu20457Ter
ENST00000589042.5:c.61369G>T (TTN) MANE Select ENSP00000467141.1:p.Glu20457Ter
NM_001256850.1:c.56446G>T (TTN) NP_001243779.1:p.Glu18816Ter
NM_003319.4:c.34174G>T (TTN) NP_003310.4:p.Glu11392Ter
NM_133378.4:c.53665G>T (TTN) NP_596869.4:p.Glu17889Ter
NM_133432.3:c.34549G>T (TTN) NP_597676.3:p.Glu11517Ter
NM_133437.4:c.34750G>T (TTN) NP_597681.4:p.Glu11584Ter
NR_038271.1:n.597-7240C>A (TTN-AS1)
NR_038272.1:n.3189-783C>A (TTN-AS1)
ENST00000342175.10:c.34750G>T (TTN) ENSP00000340554.6:p.Glu11584Ter
ENST00000342175.11:c.34750G>T (TTN) ENSP00000340554.6:p.Glu11584Ter
ENST00000342992.10:c.53665G>T (TTN) ENSP00000343764.6:p.Glu17889Ter
ENST00000342992.11:c.53665G>T (TTN) ENSP00000343764.6:p.Glu17889Ter
ENST00000359218.10:c.34549G>T (TTN) ENSP00000352154.5:p.Glu11517Ter
ENST00000359218.9:c.34549G>T (TTN) ENSP00000352154.5:p.Glu11517Ter
ENST00000460472.6:c.34174G>T (TTN) ENSP00000434586.1:p.Glu11392Ter
ENST00000591111.5:c.56446G>T (TTN) ENSP00000465570.1:p.Glu18816Ter
ENST00000615779.4:c.56446G>T (TTN) ENSP00000483597.1:p.Glu18816Ter
XM_011511729.1:c.60466G>T (TTN) XP_011510031.1:p.Glu20156Ter
XM_011511730.1:c.34360G>T (TTN) XP_011510032.1:p.Glu11454Ter
XM_011511731.1:c.34219G>T (TTN) XP_011510033.1:p.Glu11407Ter
XM_017004819.1:c.60262G>T (TTN) XP_016860308.1:p.Glu20088Ter
XM_017004820.1:c.55660G>T (TTN) XP_016860309.1:p.Glu18554Ter
XM_017004821.1:c.55657G>T (TTN) XP_016860310.1:p.Glu18553Ter
XM_017004822.1:c.52699G>T (TTN) XP_016860311.1:p.Glu17567Ter
XM_017004823.1:c.34315G>T (TTN) XP_016860312.1:p.Glu11439Ter
XM_024453094.1:c.55810G>T (TTN) XP_024308862.1:p.Glu18604Ter
XM_024453095.1:c.55807G>T (TTN) XP_024308863.1:p.Glu18603Ter
XM_024453096.1:c.55240G>T (TTN) XP_024308864.1:p.Glu18414Ter
XM_024453097.1:c.52582G>T (TTN) XP_024308865.1:p.Glu17528Ter
XM_024453098.1:c.52501G>T (TTN) XP_024308866.1:p.Glu17501Ter
XM_024453099.1:c.34264G>T (TTN) XP_024308867.1:p.Glu11422Ter
XM_024453100.1:c.24118G>T (TTN) XP_024308868.1:p.Glu8040Ter