Canonical Allele Identifier: CA349667954
Community Standard Title: NM_001267550.2(TTN):c.69479G>A (p.Trp23160Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178576765C>T , CM000664.2:g.178576765C>T GRCh38
NC_000002.11:g.179441492C>T , CM000664.1:g.179441492C>T GRCh37
NC_000002.10:g.179149738C>T NCBI36
NG_011618.3:g.259038G>A , LRG_391:g.259038G>A
NG_051363.1:g.58939C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.69479G>A (TTN) MANE Select NP_001254479.2:p.Trp23160Ter
ENST00000589042.5:c.69479G>A (TTN) MANE Select ENSP00000467141.1:p.Trp23160Ter
NM_001256850.1:c.64556G>A (TTN) NP_001243779.1:p.Trp21519Ter
NM_003319.4:c.42284G>A (TTN) NP_003310.4:p.Trp14095Ter
NM_133378.4:c.61775G>A (TTN) NP_596869.4:p.Trp20592Ter
NM_133432.3:c.42659G>A (TTN) NP_597676.3:p.Trp14220Ter
NM_133437.4:c.42860G>A (TTN) NP_597681.4:p.Trp14287Ter
NR_038271.1:n.596+5316C>T (TTN-AS1)
NR_038272.1:n.2044-5807C>T (TTN-AS1)
ENST00000342175.10:c.42860G>A (TTN) ENSP00000340554.6:p.Trp14287Ter
ENST00000342175.11:c.42860G>A (TTN) ENSP00000340554.6:p.Trp14287Ter
ENST00000342992.10:c.61775G>A (TTN) ENSP00000343764.6:p.Trp20592Ter
ENST00000342992.11:c.61775G>A (TTN) ENSP00000343764.6:p.Trp20592Ter
ENST00000359218.10:c.42659G>A (TTN) ENSP00000352154.5:p.Trp14220Ter
ENST00000359218.9:c.42659G>A (TTN) ENSP00000352154.5:p.Trp14220Ter
ENST00000460472.6:c.42284G>A (TTN) ENSP00000434586.1:p.Trp14095Ter
ENST00000591111.5:c.64556G>A (TTN) ENSP00000465570.1:p.Trp21519Ter
ENST00000615779.4:c.64556G>A (TTN) ENSP00000483597.1:p.Trp21519Ter
XM_011511729.1:c.68576G>A (TTN) XP_011510031.1:p.Trp22859Ter
XM_011511730.1:c.42470G>A (TTN) XP_011510032.1:p.Trp14157Ter
XM_011511731.1:c.42329G>A (TTN) XP_011510033.1:p.Trp14110Ter
XM_017004819.1:c.68372G>A (TTN) XP_016860308.1:p.Trp22791Ter
XM_017004820.1:c.63770G>A (TTN) XP_016860309.1:p.Trp21257Ter
XM_017004821.1:c.63767G>A (TTN) XP_016860310.1:p.Trp21256Ter
XM_017004822.1:c.60809G>A (TTN) XP_016860311.1:p.Trp20270Ter
XM_017004823.1:c.42425G>A (TTN) XP_016860312.1:p.Trp14142Ter
XM_024453094.1:c.63920G>A (TTN) XP_024308862.1:p.Trp21307Ter
XM_024453095.1:c.63917G>A (TTN) XP_024308863.1:p.Trp21306Ter
XM_024453096.1:c.63350G>A (TTN) XP_024308864.1:p.Trp21117Ter
XM_024453097.1:c.60692G>A (TTN) XP_024308865.1:p.Trp20231Ter
XM_024453098.1:c.60611G>A (TTN) XP_024308866.1:p.Trp20204Ter
XM_024453099.1:c.42374G>A (TTN) XP_024308867.1:p.Trp14125Ter
XM_024453100.1:c.32228G>A (TTN) XP_024308868.1:p.Trp10743Ter