Canonical Allele Identifier: CA349421469
Community Standard Title: NM_001267550.2(TTN):c.68137G>T (p.Glu22713Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178578893C>A , CM000664.2:g.178578893C>A GRCh38
NC_000002.11:g.179443620C>A , CM000664.1:g.179443620C>A GRCh37
NC_000002.10:g.179151866C>A NCBI36
NG_011618.3:g.256910G>T , LRG_391:g.256910G>T
NG_051363.1:g.61067C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.68137G>T (TTN) MANE Select NP_001254479.2:p.Glu22713Ter
ENST00000589042.5:c.68137G>T (TTN) MANE Select ENSP00000467141.1:p.Glu22713Ter
NM_001256850.1:c.63214G>T (TTN) NP_001243779.1:p.Glu21072Ter
NM_003319.4:c.40942G>T (TTN) NP_003310.4:p.Glu13648Ter
NM_133378.4:c.60433G>T (TTN) NP_596869.4:p.Glu20145Ter
NM_133432.3:c.41317G>T (TTN) NP_597676.3:p.Glu13773Ter
NM_133437.4:c.41518G>T (TTN) NP_597681.4:p.Glu13840Ter
NR_038271.1:n.596+7444C>A (TTN-AS1)
NR_038272.1:n.2044-3679C>A (TTN-AS1)
ENST00000342175.10:c.41518G>T (TTN) ENSP00000340554.6:p.Glu13840Ter
ENST00000342175.11:c.41518G>T (TTN) ENSP00000340554.6:p.Glu13840Ter
ENST00000342992.10:c.60433G>T (TTN) ENSP00000343764.6:p.Glu20145Ter
ENST00000342992.11:c.60433G>T (TTN) ENSP00000343764.6:p.Glu20145Ter
ENST00000359218.10:c.41317G>T (TTN) ENSP00000352154.5:p.Glu13773Ter
ENST00000359218.9:c.41317G>T (TTN) ENSP00000352154.5:p.Glu13773Ter
ENST00000460472.6:c.40942G>T (TTN) ENSP00000434586.1:p.Glu13648Ter
ENST00000591111.5:c.63214G>T (TTN) ENSP00000465570.1:p.Glu21072Ter
ENST00000615779.4:c.63214G>T (TTN) ENSP00000483597.1:p.Glu21072Ter
XM_011511729.1:c.67234G>T (TTN) XP_011510031.1:p.Glu22412Ter
XM_011511730.1:c.41128G>T (TTN) XP_011510032.1:p.Glu13710Ter
XM_011511731.1:c.40987G>T (TTN) XP_011510033.1:p.Glu13663Ter
XM_017004819.1:c.67030G>T (TTN) XP_016860308.1:p.Glu22344Ter
XM_017004820.1:c.62428G>T (TTN) XP_016860309.1:p.Glu20810Ter
XM_017004821.1:c.62425G>T (TTN) XP_016860310.1:p.Glu20809Ter
XM_017004822.1:c.59467G>T (TTN) XP_016860311.1:p.Glu19823Ter
XM_017004823.1:c.41083G>T (TTN) XP_016860312.1:p.Glu13695Ter
XM_024453094.1:c.62578G>T (TTN) XP_024308862.1:p.Glu20860Ter
XM_024453095.1:c.62575G>T (TTN) XP_024308863.1:p.Glu20859Ter
XM_024453096.1:c.62008G>T (TTN) XP_024308864.1:p.Glu20670Ter
XM_024453097.1:c.59350G>T (TTN) XP_024308865.1:p.Glu19784Ter
XM_024453098.1:c.59269G>T (TTN) XP_024308866.1:p.Glu19757Ter
XM_024453099.1:c.41032G>T (TTN) XP_024308867.1:p.Glu13678Ter
XM_024453100.1:c.30886G>T (TTN) XP_024308868.1:p.Glu10296Ter