Canonical Allele Identifier: CA349516469
Community Standard Title: NM_001267550.2(TTN):c.57603C>A (p.Cys19201Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178595751G>T , CM000664.2:g.178595751G>T GRCh38
NC_000002.11:g.179460478G>T , CM000664.1:g.179460478G>T GRCh37
NC_000002.10:g.179168724G>T NCBI36
NG_011618.3:g.240052C>A , LRG_391:g.240052C>A
NG_051363.1:g.77925G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.57603C>A (TTN) MANE Select NP_001254479.2:p.Cys19201Ter
ENST00000589042.5:c.57603C>A (TTN) MANE Select ENSP00000467141.1:p.Cys19201Ter
NM_001256850.1:c.52680C>A (TTN) NP_001243779.1:p.Cys17560Ter
NM_003319.4:c.30408C>A (TTN) NP_003310.4:p.Cys10136Ter
NM_133378.4:c.49899C>A (TTN) NP_596869.4:p.Cys16633Ter
NM_133432.3:c.30783C>A (TTN) NP_597676.3:p.Cys10261Ter
NM_133437.4:c.30984C>A (TTN) NP_597681.4:p.Cys10328Ter
NR_038271.1:n.597-1845G>T (TTN-AS1)
NR_038272.1:n.3365-1845G>T (TTN-AS1)
ENST00000342175.10:c.30984C>A (TTN) ENSP00000340554.6:p.Cys10328Ter
ENST00000342175.11:c.30984C>A (TTN) ENSP00000340554.6:p.Cys10328Ter
ENST00000342992.10:c.49899C>A (TTN) ENSP00000343764.6:p.Cys16633Ter
ENST00000342992.11:c.49899C>A (TTN) ENSP00000343764.6:p.Cys16633Ter
ENST00000359218.10:c.30783C>A (TTN) ENSP00000352154.5:p.Cys10261Ter
ENST00000359218.9:c.30783C>A (TTN) ENSP00000352154.5:p.Cys10261Ter
ENST00000460472.6:c.30408C>A (TTN) ENSP00000434586.1:p.Cys10136Ter
ENST00000591111.5:c.52680C>A (TTN) ENSP00000465570.1:p.Cys17560Ter
ENST00000615779.4:c.52680C>A (TTN) ENSP00000483597.1:p.Cys17560Ter
XM_011511729.1:c.56700C>A (TTN) XP_011510031.1:p.Cys18900Ter
XM_011511730.1:c.30594C>A (TTN) XP_011510032.1:p.Cys10198Ter
XM_011511731.1:c.30453C>A (TTN) XP_011510033.1:p.Cys10151Ter
XM_017004819.1:c.56496C>A (TTN) XP_016860308.1:p.Cys18832Ter
XM_017004820.1:c.51894C>A (TTN) XP_016860309.1:p.Cys17298Ter
XM_017004821.1:c.51891C>A (TTN) XP_016860310.1:p.Cys17297Ter
XM_017004822.1:c.48933C>A (TTN) XP_016860311.1:p.Cys16311Ter
XM_017004823.1:c.30549C>A (TTN) XP_016860312.1:p.Cys10183Ter
XM_024453094.1:c.52044C>A (TTN) XP_024308862.1:p.Cys17348Ter
XM_024453095.1:c.52041C>A (TTN) XP_024308863.1:p.Cys17347Ter
XM_024453096.1:c.51474C>A (TTN) XP_024308864.1:p.Cys17158Ter
XM_024453097.1:c.48816C>A (TTN) XP_024308865.1:p.Cys16272Ter
XM_024453098.1:c.48735C>A (TTN) XP_024308866.1:p.Cys16245Ter
XM_024453099.1:c.30498C>A (TTN) XP_024308867.1:p.Cys10166Ter
XM_024453100.1:c.20352C>A (TTN) XP_024308868.1:p.Cys6784Ter