Canonical Allele Identifier: CA1986390
Community Standard Title: NM_001267550.2(TTN):c.98341T>C (p.Cys32781Arg)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178539724A>G , CM000664.2:g.178539724A>G GRCh38
NC_000002.11:g.179404451A>G , CM000664.1:g.179404451A>G GRCh37
NC_000002.10:g.179112697A>G NCBI36
NG_011618.3:g.296079T>C , LRG_391:g.296079T>C
NG_051363.1:g.21898A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.98341T>C (TTN) MANE Select NP_001254479.2:p.Cys32781Arg
ENST00000589042.5:c.98341T>C (TTN) MANE Select ENSP00000467141.1:p.Cys32781Arg
NM_001256850.1:c.93418T>C (TTN) NP_001243779.1:p.Cys31140Arg
NM_003319.4:c.71146T>C (TTN) NP_003310.4:p.Cys23716Arg
NM_133378.4:c.90637T>C (TTN) NP_596869.4:p.Cys30213Arg
NM_133432.3:c.71521T>C (TTN) NP_597676.3:p.Cys23841Arg
NM_133437.4:c.71722T>C (TTN) NP_597681.4:p.Cys23908Arg
NR_038271.1:n.446+16088A>G (TTN-AS1)
NR_038272.1:n.1674A>G (TTN-AS1)
ENST00000342175.10:c.71722T>C (TTN) ENSP00000340554.6:p.Cys23908Arg
ENST00000342175.11:c.71722T>C (TTN) ENSP00000340554.6:p.Cys23908Arg
ENST00000342992.10:c.90637T>C (TTN) ENSP00000343764.6:p.Cys30213Arg
ENST00000342992.11:c.90637T>C (TTN) ENSP00000343764.6:p.Cys30213Arg
ENST00000359218.10:c.71521T>C (TTN) ENSP00000352154.5:p.Cys23841Arg
ENST00000359218.9:c.71521T>C (TTN) ENSP00000352154.5:p.Cys23841Arg
ENST00000460472.6:c.71146T>C (TTN) ENSP00000434586.1:p.Cys23716Arg
ENST00000591111.5:c.93418T>C (TTN) ENSP00000465570.1:p.Cys31140Arg
ENST00000615779.4:c.93418T>C (TTN) ENSP00000483597.1:p.Cys31140Arg
XM_011511729.1:c.97438T>C (TTN) XP_011510031.1:p.Cys32480Arg
XM_011511730.1:c.71332T>C (TTN) XP_011510032.1:p.Cys23778Arg
XM_011511731.1:c.71191T>C (TTN) XP_011510033.1:p.Cys23731Arg
XM_017004819.1:c.97234T>C (TTN) XP_016860308.1:p.Cys32412Arg
XM_017004820.1:c.92632T>C (TTN) XP_016860309.1:p.Cys30878Arg
XM_017004821.1:c.92629T>C (TTN) XP_016860310.1:p.Cys30877Arg
XM_017004822.1:c.89671T>C (TTN) XP_016860311.1:p.Cys29891Arg
XM_017004823.1:c.71287T>C (TTN) XP_016860312.1:p.Cys23763Arg
XM_024453094.1:c.92782T>C (TTN) XP_024308862.1:p.Cys30928Arg
XM_024453095.1:c.92779T>C (TTN) XP_024308863.1:p.Cys30927Arg
XM_024453096.1:c.92212T>C (TTN) XP_024308864.1:p.Cys30738Arg
XM_024453097.1:c.89554T>C (TTN) XP_024308865.1:p.Cys29852Arg
XM_024453098.1:c.89473T>C (TTN) XP_024308866.1:p.Cys29825Arg
XM_024453099.1:c.71236T>C (TTN) XP_024308867.1:p.Cys23746Arg
XM_024453100.1:c.61090T>C (TTN) XP_024308868.1:p.Cys20364Arg