Canonical Allele Identifier: CA349493768
Community Standard Title: NM_001267550.2(TTN):c.92298G>A (p.Trp30766Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549328C>T , CM000664.2:g.178549328C>T GRCh38
NC_000002.11:g.179414055C>T , CM000664.1:g.179414055C>T GRCh37
NC_000002.10:g.179122301C>T NCBI36
NG_011618.3:g.286475G>A , LRG_391:g.286475G>A
NG_051363.1:g.31502C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.92298G>A (TTN) MANE Select NP_001254479.2:p.Trp30766Ter
ENST00000589042.5:c.92298G>A (TTN) MANE Select ENSP00000467141.1:p.Trp30766Ter
NM_001256850.1:c.87375G>A (TTN) NP_001243779.1:p.Trp29125Ter
NM_003319.4:c.65103G>A (TTN) NP_003310.4:p.Trp21701Ter
NM_133378.4:c.84594G>A (TTN) NP_596869.4:p.Trp28198Ter
NM_133432.3:c.65478G>A (TTN) NP_597676.3:p.Trp21826Ter
NM_133437.4:c.65679G>A (TTN) NP_597681.4:p.Trp21893Ter
NR_038271.1:n.447-21972C>T (TTN-AS1)
NR_038272.1:n.2043+6967C>T (TTN-AS1)
ENST00000342175.10:c.65679G>A (TTN) ENSP00000340554.6:p.Trp21893Ter
ENST00000342175.11:c.65679G>A (TTN) ENSP00000340554.6:p.Trp21893Ter
ENST00000342992.10:c.84594G>A (TTN) ENSP00000343764.6:p.Trp28198Ter
ENST00000342992.11:c.84594G>A (TTN) ENSP00000343764.6:p.Trp28198Ter
ENST00000359218.10:c.65478G>A (TTN) ENSP00000352154.5:p.Trp21826Ter
ENST00000359218.9:c.65478G>A (TTN) ENSP00000352154.5:p.Trp21826Ter
ENST00000460472.6:c.65103G>A (TTN) ENSP00000434586.1:p.Trp21701Ter
ENST00000591111.5:c.87375G>A (TTN) ENSP00000465570.1:p.Trp29125Ter
ENST00000615779.4:c.87375G>A (TTN) ENSP00000483597.1:p.Trp29125Ter
XM_011511729.1:c.91395G>A (TTN) XP_011510031.1:p.Trp30465Ter
XM_011511730.1:c.65289G>A (TTN) XP_011510032.1:p.Trp21763Ter
XM_011511731.1:c.65148G>A (TTN) XP_011510033.1:p.Trp21716Ter
XM_017004819.1:c.91191G>A (TTN) XP_016860308.1:p.Trp30397Ter
XM_017004820.1:c.86589G>A (TTN) XP_016860309.1:p.Trp28863Ter
XM_017004821.1:c.86586G>A (TTN) XP_016860310.1:p.Trp28862Ter
XM_017004822.1:c.83628G>A (TTN) XP_016860311.1:p.Trp27876Ter
XM_017004823.1:c.65244G>A (TTN) XP_016860312.1:p.Trp21748Ter
XM_024453094.1:c.86739G>A (TTN) XP_024308862.1:p.Trp28913Ter
XM_024453095.1:c.86736G>A (TTN) XP_024308863.1:p.Trp28912Ter
XM_024453096.1:c.86169G>A (TTN) XP_024308864.1:p.Trp28723Ter
XM_024453097.1:c.83511G>A (TTN) XP_024308865.1:p.Trp27837Ter
XM_024453098.1:c.83430G>A (TTN) XP_024308866.1:p.Trp27810Ter
XM_024453099.1:c.65193G>A (TTN) XP_024308867.1:p.Trp21731Ter
XM_024453100.1:c.55047G>A (TTN) XP_024308868.1:p.Trp18349Ter