Canonical Allele Identifier: CA349519194
Community Standard Title: NM_001267550.2(TTN):c.89335G>T (p.Glu29779Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178553670C>A , CM000664.2:g.178553670C>A GRCh38
NC_000002.11:g.179418397C>A , CM000664.1:g.179418397C>A GRCh37
NC_000002.10:g.179126643C>A NCBI36
NG_011618.3:g.282133G>T , LRG_391:g.282133G>T
NG_051363.1:g.35844C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.89335G>T (TTN) MANE Select NP_001254479.2:p.Glu29779Ter
ENST00000589042.5:c.89335G>T (TTN) MANE Select ENSP00000467141.1:p.Glu29779Ter
NM_001256850.1:c.84412G>T (TTN) NP_001243779.1:p.Glu28138Ter
NM_003319.4:c.62140G>T (TTN) NP_003310.4:p.Glu20714Ter
NM_133378.4:c.81631G>T (TTN) NP_596869.4:p.Glu27211Ter
NM_133432.3:c.62515G>T (TTN) NP_597676.3:p.Glu20839Ter
NM_133437.4:c.62716G>T (TTN) NP_597681.4:p.Glu20906Ter
NR_038271.1:n.447-17630C>A (TTN-AS1)
NR_038272.1:n.2043+11309C>A (TTN-AS1)
ENST00000342175.10:c.62716G>T (TTN) ENSP00000340554.6:p.Glu20906Ter
ENST00000342175.11:c.62716G>T (TTN) ENSP00000340554.6:p.Glu20906Ter
ENST00000342992.10:c.81631G>T (TTN) ENSP00000343764.6:p.Glu27211Ter
ENST00000342992.11:c.81631G>T (TTN) ENSP00000343764.6:p.Glu27211Ter
ENST00000359218.10:c.62515G>T (TTN) ENSP00000352154.5:p.Glu20839Ter
ENST00000359218.9:c.62515G>T (TTN) ENSP00000352154.5:p.Glu20839Ter
ENST00000460472.6:c.62140G>T (TTN) ENSP00000434586.1:p.Glu20714Ter
ENST00000591111.5:c.84412G>T (TTN) ENSP00000465570.1:p.Glu28138Ter
ENST00000615779.4:c.84412G>T (TTN) ENSP00000483597.1:p.Glu28138Ter
XM_011511729.1:c.88432G>T (TTN) XP_011510031.1:p.Glu29478Ter
XM_011511730.1:c.62326G>T (TTN) XP_011510032.1:p.Glu20776Ter
XM_011511731.1:c.62185G>T (TTN) XP_011510033.1:p.Glu20729Ter
XM_017004819.1:c.88228G>T (TTN) XP_016860308.1:p.Glu29410Ter
XM_017004820.1:c.83626G>T (TTN) XP_016860309.1:p.Glu27876Ter
XM_017004821.1:c.83623G>T (TTN) XP_016860310.1:p.Glu27875Ter
XM_017004822.1:c.80665G>T (TTN) XP_016860311.1:p.Glu26889Ter
XM_017004823.1:c.62281G>T (TTN) XP_016860312.1:p.Glu20761Ter
XM_024453094.1:c.83776G>T (TTN) XP_024308862.1:p.Glu27926Ter
XM_024453095.1:c.83773G>T (TTN) XP_024308863.1:p.Glu27925Ter
XM_024453096.1:c.83206G>T (TTN) XP_024308864.1:p.Glu27736Ter
XM_024453097.1:c.80548G>T (TTN) XP_024308865.1:p.Glu26850Ter
XM_024453098.1:c.80467G>T (TTN) XP_024308866.1:p.Glu26823Ter
XM_024453099.1:c.62230G>T (TTN) XP_024308867.1:p.Glu20744Ter
XM_024453100.1:c.52084G>T (TTN) XP_024308868.1:p.Glu17362Ter