Canonical Allele Identifier: CA349562126
Community Standard Title: NM_001267550.2(TTN):c.53648G>A (p.Trp17883Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178605647C>T , CM000664.2:g.178605647C>T GRCh38
NC_000002.11:g.179470374C>T , CM000664.1:g.179470374C>T GRCh37
NC_000002.10:g.179178619C>T NCBI36
NG_011618.3:g.230156G>A , LRG_391:g.230156G>A
NG_051363.1:g.87821C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.53648G>A (TTN) MANE Select NP_001254479.2:p.Trp17883Ter
ENST00000589042.5:c.53648G>A (TTN) MANE Select ENSP00000467141.1:p.Trp17883Ter
NM_001256850.1:c.48725G>A (TTN) NP_001243779.1:p.Trp16242Ter
NM_003319.4:c.26453G>A (TTN) NP_003310.4:p.Trp8818Ter
NM_133378.4:c.45944G>A (TTN) NP_596869.4:p.Trp15315Ter
NM_133432.3:c.26828G>A (TTN) NP_597676.3:p.Trp8943Ter
NM_133437.4:c.27029G>A (TTN) NP_597681.4:p.Trp9010Ter
NR_038271.1:n.683-2520C>T (TTN-AS1)
ENST00000342175.10:c.27029G>A (TTN) ENSP00000340554.6:p.Trp9010Ter
ENST00000342175.11:c.27029G>A (TTN) ENSP00000340554.6:p.Trp9010Ter
ENST00000342992.10:c.45944G>A (TTN) ENSP00000343764.6:p.Trp15315Ter
ENST00000342992.11:c.45944G>A (TTN) ENSP00000343764.6:p.Trp15315Ter
ENST00000359218.10:c.26828G>A (TTN) ENSP00000352154.5:p.Trp8943Ter
ENST00000359218.9:c.26828G>A (TTN) ENSP00000352154.5:p.Trp8943Ter
ENST00000460472.6:c.26453G>A (TTN) ENSP00000434586.1:p.Trp8818Ter
ENST00000591111.5:c.48725G>A (TTN) ENSP00000465570.1:p.Trp16242Ter
ENST00000615779.4:c.48725G>A (TTN) ENSP00000483597.1:p.Trp16242Ter
XM_011511729.1:c.52745G>A (TTN) XP_011510031.1:p.Trp17582Ter
XM_011511730.1:c.26639G>A (TTN) XP_011510032.1:p.Trp8880Ter
XM_011511731.1:c.26498G>A (TTN) XP_011510033.1:p.Trp8833Ter
XM_017004819.1:c.52541G>A (TTN) XP_016860308.1:p.Trp17514Ter
XM_017004820.1:c.47939G>A (TTN) XP_016860309.1:p.Trp15980Ter
XM_017004821.1:c.47936G>A (TTN) XP_016860310.1:p.Trp15979Ter
XM_017004822.1:c.44978G>A (TTN) XP_016860311.1:p.Trp14993Ter
XM_017004823.1:c.26594G>A (TTN) XP_016860312.1:p.Trp8865Ter
XM_024453094.1:c.48089G>A (TTN) XP_024308862.1:p.Trp16030Ter
XM_024453095.1:c.48086G>A (TTN) XP_024308863.1:p.Trp16029Ter
XM_024453096.1:c.47519G>A (TTN) XP_024308864.1:p.Trp15840Ter
XM_024453097.1:c.44861G>A (TTN) XP_024308865.1:p.Trp14954Ter
XM_024453098.1:c.44780G>A (TTN) XP_024308866.1:p.Trp14927Ter
XM_024453099.1:c.26543G>A (TTN) XP_024308867.1:p.Trp8848Ter
XM_024453100.1:c.16397G>A (TTN) XP_024308868.1:p.Trp5466Ter