Canonical Allele Identifier: CA349593163
Community Standard Title: NM_001267550.2(TTN):c.79878G>A (p.Trp26626Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178566254C>T , CM000664.2:g.178566254C>T GRCh38
NC_000002.11:g.179430981C>T , CM000664.1:g.179430981C>T GRCh37
NC_000002.10:g.179139227C>T NCBI36
NG_011618.3:g.269549G>A , LRG_391:g.269549G>A
NG_051363.1:g.48428C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.79878G>A (TTN) MANE Select NP_001254479.2:p.Trp26626Ter
ENST00000589042.5:c.79878G>A (TTN) MANE Select ENSP00000467141.1:p.Trp26626Ter
NM_001256850.1:c.74955G>A (TTN) NP_001243779.1:p.Trp24985Ter
NM_003319.4:c.52683G>A (TTN) NP_003310.4:p.Trp17561Ter
NM_133378.4:c.72174G>A (TTN) NP_596869.4:p.Trp24058Ter
NM_133432.3:c.53058G>A (TTN) NP_597676.3:p.Trp17686Ter
NM_133437.4:c.53259G>A (TTN) NP_597681.4:p.Trp17753Ter
NR_038271.1:n.447-5046C>T (TTN-AS1)
NR_038272.1:n.2044-16318C>T (TTN-AS1)
ENST00000342175.10:c.53259G>A (TTN) ENSP00000340554.6:p.Trp17753Ter
ENST00000342175.11:c.53259G>A (TTN) ENSP00000340554.6:p.Trp17753Ter
ENST00000342992.10:c.72174G>A (TTN) ENSP00000343764.6:p.Trp24058Ter
ENST00000342992.11:c.72174G>A (TTN) ENSP00000343764.6:p.Trp24058Ter
ENST00000359218.10:c.53058G>A (TTN) ENSP00000352154.5:p.Trp17686Ter
ENST00000359218.9:c.53058G>A (TTN) ENSP00000352154.5:p.Trp17686Ter
ENST00000460472.6:c.52683G>A (TTN) ENSP00000434586.1:p.Trp17561Ter
ENST00000591111.5:c.74955G>A (TTN) ENSP00000465570.1:p.Trp24985Ter
ENST00000615779.4:c.74955G>A (TTN) ENSP00000483597.1:p.Trp24985Ter
XM_011511729.1:c.78975G>A (TTN) XP_011510031.1:p.Trp26325Ter
XM_011511730.1:c.52869G>A (TTN) XP_011510032.1:p.Trp17623Ter
XM_011511731.1:c.52728G>A (TTN) XP_011510033.1:p.Trp17576Ter
XM_017004819.1:c.78771G>A (TTN) XP_016860308.1:p.Trp26257Ter
XM_017004820.1:c.74169G>A (TTN) XP_016860309.1:p.Trp24723Ter
XM_017004821.1:c.74166G>A (TTN) XP_016860310.1:p.Trp24722Ter
XM_017004822.1:c.71208G>A (TTN) XP_016860311.1:p.Trp23736Ter
XM_017004823.1:c.52824G>A (TTN) XP_016860312.1:p.Trp17608Ter
XM_024453094.1:c.74319G>A (TTN) XP_024308862.1:p.Trp24773Ter
XM_024453095.1:c.74316G>A (TTN) XP_024308863.1:p.Trp24772Ter
XM_024453096.1:c.73749G>A (TTN) XP_024308864.1:p.Trp24583Ter
XM_024453097.1:c.71091G>A (TTN) XP_024308865.1:p.Trp23697Ter
XM_024453098.1:c.71010G>A (TTN) XP_024308866.1:p.Trp23670Ter
XM_024453099.1:c.52773G>A (TTN) XP_024308867.1:p.Trp17591Ter
XM_024453100.1:c.42627G>A (TTN) XP_024308868.1:p.Trp14209Ter