Canonical Allele Identifier: CA349671438
Community Standard Title: NM_001267550.2(TTN):c.68664G>A (p.Trp22888Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178577762C>T , CM000664.2:g.178577762C>T GRCh38
NC_000002.11:g.179442489C>T , CM000664.1:g.179442489C>T GRCh37
NC_000002.10:g.179150735C>T NCBI36
NG_011618.3:g.258041G>A , LRG_391:g.258041G>A
NG_051363.1:g.59936C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.68664G>A (TTN) MANE Select NP_001254479.2:p.Trp22888Ter
ENST00000589042.5:c.68664G>A (TTN) MANE Select ENSP00000467141.1:p.Trp22888Ter
NM_001256850.1:c.63741G>A (TTN) NP_001243779.1:p.Trp21247Ter
NM_003319.4:c.41469G>A (TTN) NP_003310.4:p.Trp13823Ter
NM_133378.4:c.60960G>A (TTN) NP_596869.4:p.Trp20320Ter
NM_133432.3:c.41844G>A (TTN) NP_597676.3:p.Trp13948Ter
NM_133437.4:c.42045G>A (TTN) NP_597681.4:p.Trp14015Ter
NR_038271.1:n.596+6313C>T (TTN-AS1)
NR_038272.1:n.2044-4810C>T (TTN-AS1)
ENST00000342175.10:c.42045G>A (TTN) ENSP00000340554.6:p.Trp14015Ter
ENST00000342175.11:c.42045G>A (TTN) ENSP00000340554.6:p.Trp14015Ter
ENST00000342992.10:c.60960G>A (TTN) ENSP00000343764.6:p.Trp20320Ter
ENST00000342992.11:c.60960G>A (TTN) ENSP00000343764.6:p.Trp20320Ter
ENST00000359218.10:c.41844G>A (TTN) ENSP00000352154.5:p.Trp13948Ter
ENST00000359218.9:c.41844G>A (TTN) ENSP00000352154.5:p.Trp13948Ter
ENST00000460472.6:c.41469G>A (TTN) ENSP00000434586.1:p.Trp13823Ter
ENST00000591111.5:c.63741G>A (TTN) ENSP00000465570.1:p.Trp21247Ter
ENST00000615779.4:c.63741G>A (TTN) ENSP00000483597.1:p.Trp21247Ter
XM_011511729.1:c.67761G>A (TTN) XP_011510031.1:p.Trp22587Ter
XM_011511730.1:c.41655G>A (TTN) XP_011510032.1:p.Trp13885Ter
XM_011511731.1:c.41514G>A (TTN) XP_011510033.1:p.Trp13838Ter
XM_017004819.1:c.67557G>A (TTN) XP_016860308.1:p.Trp22519Ter
XM_017004820.1:c.62955G>A (TTN) XP_016860309.1:p.Trp20985Ter
XM_017004821.1:c.62952G>A (TTN) XP_016860310.1:p.Trp20984Ter
XM_017004822.1:c.59994G>A (TTN) XP_016860311.1:p.Trp19998Ter
XM_017004823.1:c.41610G>A (TTN) XP_016860312.1:p.Trp13870Ter
XM_024453094.1:c.63105G>A (TTN) XP_024308862.1:p.Trp21035Ter
XM_024453095.1:c.63102G>A (TTN) XP_024308863.1:p.Trp21034Ter
XM_024453096.1:c.62535G>A (TTN) XP_024308864.1:p.Trp20845Ter
XM_024453097.1:c.59877G>A (TTN) XP_024308865.1:p.Trp19959Ter
XM_024453098.1:c.59796G>A (TTN) XP_024308866.1:p.Trp19932Ter
XM_024453099.1:c.41559G>A (TTN) XP_024308867.1:p.Trp13853Ter
XM_024453100.1:c.31413G>A (TTN) XP_024308868.1:p.Trp10471Ter