Canonical Allele Identifier: CA349573367
Community Standard Title: NM_001267550.2(TTN):c.82470G>A (p.Trp27490Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178563662C>T , CM000664.2:g.178563662C>T GRCh38
NC_000002.11:g.179428389C>T , CM000664.1:g.179428389C>T GRCh37
NC_000002.10:g.179136635C>T NCBI36
NG_011618.3:g.272141G>A , LRG_391:g.272141G>A
NG_051363.1:g.45836C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.82470G>A (TTN) MANE Select NP_001254479.2:p.Trp27490Ter
ENST00000589042.5:c.82470G>A (TTN) MANE Select ENSP00000467141.1:p.Trp27490Ter
NM_001256850.1:c.77547G>A (TTN) NP_001243779.1:p.Trp25849Ter
NM_003319.4:c.55275G>A (TTN) NP_003310.4:p.Trp18425Ter
NM_133378.4:c.74766G>A (TTN) NP_596869.4:p.Trp24922Ter
NM_133432.3:c.55650G>A (TTN) NP_597676.3:p.Trp18550Ter
NM_133437.4:c.55851G>A (TTN) NP_597681.4:p.Trp18617Ter
NR_038271.1:n.447-7638C>T (TTN-AS1)
NR_038272.1:n.2044-18910C>T (TTN-AS1)
ENST00000342175.10:c.55851G>A (TTN) ENSP00000340554.6:p.Trp18617Ter
ENST00000342175.11:c.55851G>A (TTN) ENSP00000340554.6:p.Trp18617Ter
ENST00000342992.10:c.74766G>A (TTN) ENSP00000343764.6:p.Trp24922Ter
ENST00000342992.11:c.74766G>A (TTN) ENSP00000343764.6:p.Trp24922Ter
ENST00000359218.10:c.55650G>A (TTN) ENSP00000352154.5:p.Trp18550Ter
ENST00000359218.9:c.55650G>A (TTN) ENSP00000352154.5:p.Trp18550Ter
ENST00000460472.6:c.55275G>A (TTN) ENSP00000434586.1:p.Trp18425Ter
ENST00000591111.5:c.77547G>A (TTN) ENSP00000465570.1:p.Trp25849Ter
ENST00000615779.4:c.77547G>A (TTN) ENSP00000483597.1:p.Trp25849Ter
XM_011511729.1:c.81567G>A (TTN) XP_011510031.1:p.Trp27189Ter
XM_011511730.1:c.55461G>A (TTN) XP_011510032.1:p.Trp18487Ter
XM_011511731.1:c.55320G>A (TTN) XP_011510033.1:p.Trp18440Ter
XM_017004819.1:c.81363G>A (TTN) XP_016860308.1:p.Trp27121Ter
XM_017004820.1:c.76761G>A (TTN) XP_016860309.1:p.Trp25587Ter
XM_017004821.1:c.76758G>A (TTN) XP_016860310.1:p.Trp25586Ter
XM_017004822.1:c.73800G>A (TTN) XP_016860311.1:p.Trp24600Ter
XM_017004823.1:c.55416G>A (TTN) XP_016860312.1:p.Trp18472Ter
XM_024453094.1:c.76911G>A (TTN) XP_024308862.1:p.Trp25637Ter
XM_024453095.1:c.76908G>A (TTN) XP_024308863.1:p.Trp25636Ter
XM_024453096.1:c.76341G>A (TTN) XP_024308864.1:p.Trp25447Ter
XM_024453097.1:c.73683G>A (TTN) XP_024308865.1:p.Trp24561Ter
XM_024453098.1:c.73602G>A (TTN) XP_024308866.1:p.Trp24534Ter
XM_024453099.1:c.55365G>A (TTN) XP_024308867.1:p.Trp18455Ter
XM_024453100.1:c.45219G>A (TTN) XP_024308868.1:p.Trp15073Ter