Canonical Allele Identifier: CA349461556
Community Standard Title: NM_001267550.2(TTN):c.95446G>T (p.Glu31816Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178545664C>A , CM000664.2:g.178545664C>A GRCh38
NC_000002.11:g.179410391C>A , CM000664.1:g.179410391C>A GRCh37
NC_000002.10:g.179118637C>A NCBI36
NG_011618.3:g.290139G>T , LRG_391:g.290139G>T
NG_051363.1:g.27838C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.95446G>T (TTN) MANE Select NP_001254479.2:p.Glu31816Ter
ENST00000589042.5:c.95446G>T (TTN) MANE Select ENSP00000467141.1:p.Glu31816Ter
NM_001256850.1:c.90523G>T (TTN) NP_001243779.1:p.Glu30175Ter
NM_003319.4:c.68251G>T (TTN) NP_003310.4:p.Glu22751Ter
NM_133378.4:c.87742G>T (TTN) NP_596869.4:p.Glu29248Ter
NM_133432.3:c.68626G>T (TTN) NP_597676.3:p.Glu22876Ter
NM_133437.4:c.68827G>T (TTN) NP_597681.4:p.Glu22943Ter
NR_038271.1:n.446+22028C>A (TTN-AS1)
NR_038272.1:n.2043+3303C>A (TTN-AS1)
ENST00000342175.10:c.68827G>T (TTN) ENSP00000340554.6:p.Glu22943Ter
ENST00000342175.11:c.68827G>T (TTN) ENSP00000340554.6:p.Glu22943Ter
ENST00000342992.10:c.87742G>T (TTN) ENSP00000343764.6:p.Glu29248Ter
ENST00000342992.11:c.87742G>T (TTN) ENSP00000343764.6:p.Glu29248Ter
ENST00000359218.10:c.68626G>T (TTN) ENSP00000352154.5:p.Glu22876Ter
ENST00000359218.9:c.68626G>T (TTN) ENSP00000352154.5:p.Glu22876Ter
ENST00000460472.6:c.68251G>T (TTN) ENSP00000434586.1:p.Glu22751Ter
ENST00000591111.5:c.90523G>T (TTN) ENSP00000465570.1:p.Glu30175Ter
ENST00000615779.4:c.90523G>T (TTN) ENSP00000483597.1:p.Glu30175Ter
XM_011511729.1:c.94543G>T (TTN) XP_011510031.1:p.Glu31515Ter
XM_011511730.1:c.68437G>T (TTN) XP_011510032.1:p.Glu22813Ter
XM_011511731.1:c.68296G>T (TTN) XP_011510033.1:p.Glu22766Ter
XM_017004819.1:c.94339G>T (TTN) XP_016860308.1:p.Glu31447Ter
XM_017004820.1:c.89737G>T (TTN) XP_016860309.1:p.Glu29913Ter
XM_017004821.1:c.89734G>T (TTN) XP_016860310.1:p.Glu29912Ter
XM_017004822.1:c.86776G>T (TTN) XP_016860311.1:p.Glu28926Ter
XM_017004823.1:c.68392G>T (TTN) XP_016860312.1:p.Glu22798Ter
XM_024453094.1:c.89887G>T (TTN) XP_024308862.1:p.Glu29963Ter
XM_024453095.1:c.89884G>T (TTN) XP_024308863.1:p.Glu29962Ter
XM_024453096.1:c.89317G>T (TTN) XP_024308864.1:p.Glu29773Ter
XM_024453097.1:c.86659G>T (TTN) XP_024308865.1:p.Glu28887Ter
XM_024453098.1:c.86578G>T (TTN) XP_024308866.1:p.Glu28860Ter
XM_024453099.1:c.68341G>T (TTN) XP_024308867.1:p.Glu22781Ter
XM_024453100.1:c.58195G>T (TTN) XP_024308868.1:p.Glu19399Ter