Canonical Allele Identifier: CA349543506
Community Standard Title: NM_001267550.2(TTN):c.55235G>A (p.Trp18412Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178602036C>T , CM000664.2:g.178602036C>T GRCh38
NC_000002.11:g.179466763C>T , CM000664.1:g.179466763C>T GRCh37
NC_000002.10:g.179175008C>T NCBI36
NG_011618.3:g.233767G>A , LRG_391:g.233767G>A
NG_051363.1:g.84210C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.55235G>A (TTN) MANE Select NP_001254479.2:p.Trp18412Ter
ENST00000589042.5:c.55235G>A (TTN) MANE Select ENSP00000467141.1:p.Trp18412Ter
NM_001256850.1:c.50312G>A (TTN) NP_001243779.1:p.Trp16771Ter
NM_003319.4:c.28040G>A (TTN) NP_003310.4:p.Trp9347Ter
NM_133378.4:c.47531G>A (TTN) NP_596869.4:p.Trp15844Ter
NM_133432.3:c.28415G>A (TTN) NP_597676.3:p.Trp9472Ter
NM_133437.4:c.28616G>A (TTN) NP_597681.4:p.Trp9539Ter
NR_038271.1:n.682+4355C>T (TTN-AS1)
NR_038272.1:n.3917+1369C>T (TTN-AS1)
ENST00000342175.10:c.28616G>A (TTN) ENSP00000340554.6:p.Trp9539Ter
ENST00000342175.11:c.28616G>A (TTN) ENSP00000340554.6:p.Trp9539Ter
ENST00000342992.10:c.47531G>A (TTN) ENSP00000343764.6:p.Trp15844Ter
ENST00000342992.11:c.47531G>A (TTN) ENSP00000343764.6:p.Trp15844Ter
ENST00000359218.10:c.28415G>A (TTN) ENSP00000352154.5:p.Trp9472Ter
ENST00000359218.9:c.28415G>A (TTN) ENSP00000352154.5:p.Trp9472Ter
ENST00000460472.6:c.28040G>A (TTN) ENSP00000434586.1:p.Trp9347Ter
ENST00000591111.5:c.50312G>A (TTN) ENSP00000465570.1:p.Trp16771Ter
ENST00000615779.4:c.50312G>A (TTN) ENSP00000483597.1:p.Trp16771Ter
XM_011511729.1:c.54332G>A (TTN) XP_011510031.1:p.Trp18111Ter
XM_011511730.1:c.28226G>A (TTN) XP_011510032.1:p.Trp9409Ter
XM_011511731.1:c.28085G>A (TTN) XP_011510033.1:p.Trp9362Ter
XM_017004819.1:c.54128G>A (TTN) XP_016860308.1:p.Trp18043Ter
XM_017004820.1:c.49526G>A (TTN) XP_016860309.1:p.Trp16509Ter
XM_017004821.1:c.49523G>A (TTN) XP_016860310.1:p.Trp16508Ter
XM_017004822.1:c.46565G>A (TTN) XP_016860311.1:p.Trp15522Ter
XM_017004823.1:c.28181G>A (TTN) XP_016860312.1:p.Trp9394Ter
XM_024453094.1:c.49676G>A (TTN) XP_024308862.1:p.Trp16559Ter
XM_024453095.1:c.49673G>A (TTN) XP_024308863.1:p.Trp16558Ter
XM_024453096.1:c.49106G>A (TTN) XP_024308864.1:p.Trp16369Ter
XM_024453097.1:c.46448G>A (TTN) XP_024308865.1:p.Trp15483Ter
XM_024453098.1:c.46367G>A (TTN) XP_024308866.1:p.Trp15456Ter
XM_024453099.1:c.28130G>A (TTN) XP_024308867.1:p.Trp9377Ter
XM_024453100.1:c.17984G>A (TTN) XP_024308868.1:p.Trp5995Ter