Canonical Allele Identifier: CA349487989
Community Standard Title: NM_001267550.2(TTN):c.59994G>A (p.Trp19998Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591825C>T , CM000664.2:g.178591825C>T GRCh38
NC_000002.11:g.179456552C>T , CM000664.1:g.179456552C>T GRCh37
NC_000002.10:g.179164798C>T NCBI36
NG_011618.3:g.243978G>A , LRG_391:g.243978G>A
NG_051363.1:g.73999C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.59994G>A (TTN) MANE Select NP_001254479.2:p.Trp19998Ter
ENST00000589042.5:c.59994G>A (TTN) MANE Select ENSP00000467141.1:p.Trp19998Ter
NM_001256850.1:c.55071G>A (TTN) NP_001243779.1:p.Trp18357Ter
NM_003319.4:c.32799G>A (TTN) NP_003310.4:p.Trp10933Ter
NM_133378.4:c.52290G>A (TTN) NP_596869.4:p.Trp17430Ter
NM_133432.3:c.33174G>A (TTN) NP_597676.3:p.Trp11058Ter
NM_133437.4:c.33375G>A (TTN) NP_597681.4:p.Trp11125Ter
NR_038271.1:n.597-5771C>T (TTN-AS1)
NR_038272.1:n.3364+511C>T (TTN-AS1)
ENST00000342175.10:c.33375G>A (TTN) ENSP00000340554.6:p.Trp11125Ter
ENST00000342175.11:c.33375G>A (TTN) ENSP00000340554.6:p.Trp11125Ter
ENST00000342992.10:c.52290G>A (TTN) ENSP00000343764.6:p.Trp17430Ter
ENST00000342992.11:c.52290G>A (TTN) ENSP00000343764.6:p.Trp17430Ter
ENST00000359218.10:c.33174G>A (TTN) ENSP00000352154.5:p.Trp11058Ter
ENST00000359218.9:c.33174G>A (TTN) ENSP00000352154.5:p.Trp11058Ter
ENST00000460472.6:c.32799G>A (TTN) ENSP00000434586.1:p.Trp10933Ter
ENST00000591111.5:c.55071G>A (TTN) ENSP00000465570.1:p.Trp18357Ter
ENST00000615779.4:c.55071G>A (TTN) ENSP00000483597.1:p.Trp18357Ter
XM_011511729.1:c.59091G>A (TTN) XP_011510031.1:p.Trp19697Ter
XM_011511730.1:c.32985G>A (TTN) XP_011510032.1:p.Trp10995Ter
XM_011511731.1:c.32844G>A (TTN) XP_011510033.1:p.Trp10948Ter
XM_017004819.1:c.58887G>A (TTN) XP_016860308.1:p.Trp19629Ter
XM_017004820.1:c.54285G>A (TTN) XP_016860309.1:p.Trp18095Ter
XM_017004821.1:c.54282G>A (TTN) XP_016860310.1:p.Trp18094Ter
XM_017004822.1:c.51324G>A (TTN) XP_016860311.1:p.Trp17108Ter
XM_017004823.1:c.32940G>A (TTN) XP_016860312.1:p.Trp10980Ter
XM_024453094.1:c.54435G>A (TTN) XP_024308862.1:p.Trp18145Ter
XM_024453095.1:c.54432G>A (TTN) XP_024308863.1:p.Trp18144Ter
XM_024453096.1:c.53865G>A (TTN) XP_024308864.1:p.Trp17955Ter
XM_024453097.1:c.51207G>A (TTN) XP_024308865.1:p.Trp17069Ter
XM_024453098.1:c.51126G>A (TTN) XP_024308866.1:p.Trp17042Ter
XM_024453099.1:c.32889G>A (TTN) XP_024308867.1:p.Trp10963Ter
XM_024453100.1:c.22743G>A (TTN) XP_024308868.1:p.Trp7581Ter