Canonical Allele Identifier: CA349568696
Community Standard Title: NM_001267550.2(TTN):c.53041G>T (p.Gly17681Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178607647C>A , CM000664.2:g.178607647C>A GRCh38
NC_000002.11:g.179472374C>A , CM000664.1:g.179472374C>A GRCh37
NC_000002.10:g.179180619C>A NCBI36
NG_011618.3:g.228156G>T , LRG_391:g.228156G>T
NG_051363.1:g.89821C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.53041G>T (TTN) MANE Select NP_001254479.2:p.Gly17681Ter
ENST00000589042.5:c.53041G>T (TTN) MANE Select ENSP00000467141.1:p.Gly17681Ter
NM_001256850.1:c.48118G>T (TTN) NP_001243779.1:p.Gly16040Ter
NM_003319.4:c.25846G>T (TTN) NP_003310.4:p.Gly8616Ter
NM_133378.4:c.45337G>T (TTN) NP_596869.4:p.Gly15113Ter
NM_133432.3:c.26221G>T (TTN) NP_597676.3:p.Gly8741Ter
NM_133437.4:c.26422G>T (TTN) NP_597681.4:p.Gly8808Ter
NR_038271.1:n.683-520C>A (TTN-AS1)
ENST00000342175.10:c.26422G>T (TTN) ENSP00000340554.6:p.Gly8808Ter
ENST00000342175.11:c.26422G>T (TTN) ENSP00000340554.6:p.Gly8808Ter
ENST00000342992.10:c.45337G>T (TTN) ENSP00000343764.6:p.Gly15113Ter
ENST00000342992.11:c.45337G>T (TTN) ENSP00000343764.6:p.Gly15113Ter
ENST00000359218.10:c.26221G>T (TTN) ENSP00000352154.5:p.Gly8741Ter
ENST00000359218.9:c.26221G>T (TTN) ENSP00000352154.5:p.Gly8741Ter
ENST00000460472.6:c.25846G>T (TTN) ENSP00000434586.1:p.Gly8616Ter
ENST00000591111.5:c.48118G>T (TTN) ENSP00000465570.1:p.Gly16040Ter
ENST00000615779.4:c.48118G>T (TTN) ENSP00000483597.1:p.Gly16040Ter
XM_011511729.1:c.52138G>T (TTN) XP_011510031.1:p.Gly17380Ter
XM_011511730.1:c.26032G>T (TTN) XP_011510032.1:p.Gly8678Ter
XM_011511731.1:c.25891G>T (TTN) XP_011510033.1:p.Gly8631Ter
XM_017004819.1:c.51934G>T (TTN) XP_016860308.1:p.Gly17312Ter
XM_017004820.1:c.47332G>T (TTN) XP_016860309.1:p.Gly15778Ter
XM_017004821.1:c.47329G>T (TTN) XP_016860310.1:p.Gly15777Ter
XM_017004822.1:c.44371G>T (TTN) XP_016860311.1:p.Gly14791Ter
XM_017004823.1:c.25987G>T (TTN) XP_016860312.1:p.Gly8663Ter
XM_024453094.1:c.47482G>T (TTN) XP_024308862.1:p.Gly15828Ter
XM_024453095.1:c.47479G>T (TTN) XP_024308863.1:p.Gly15827Ter
XM_024453096.1:c.46912G>T (TTN) XP_024308864.1:p.Gly15638Ter
XM_024453097.1:c.44254G>T (TTN) XP_024308865.1:p.Gly14752Ter
XM_024453098.1:c.44173G>T (TTN) XP_024308866.1:p.Gly14725Ter
XM_024453099.1:c.25936G>T (TTN) XP_024308867.1:p.Gly8646Ter
XM_024453100.1:c.15790G>T (TTN) XP_024308868.1:p.Gly5264Ter