Canonical Allele Identifier: CA349581739
Community Standard Title: NM_001267550.2(TTN):c.81357G>A (p.Trp27119Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178564775C>T , CM000664.2:g.178564775C>T GRCh38
NC_000002.11:g.179429502C>T , CM000664.1:g.179429502C>T GRCh37
NC_000002.10:g.179137748C>T NCBI36
NG_011618.3:g.271028G>A , LRG_391:g.271028G>A
NG_051363.1:g.46949C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.81357G>A (TTN) MANE Select NP_001254479.2:p.Trp27119Ter
ENST00000589042.5:c.81357G>A (TTN) MANE Select ENSP00000467141.1:p.Trp27119Ter
NM_001256850.1:c.76434G>A (TTN) NP_001243779.1:p.Trp25478Ter
NM_003319.4:c.54162G>A (TTN) NP_003310.4:p.Trp18054Ter
NM_133378.4:c.73653G>A (TTN) NP_596869.4:p.Trp24551Ter
NM_133432.3:c.54537G>A (TTN) NP_597676.3:p.Trp18179Ter
NM_133437.4:c.54738G>A (TTN) NP_597681.4:p.Trp18246Ter
NR_038271.1:n.447-6525C>T (TTN-AS1)
NR_038272.1:n.2044-17797C>T (TTN-AS1)
ENST00000342175.10:c.54738G>A (TTN) ENSP00000340554.6:p.Trp18246Ter
ENST00000342175.11:c.54738G>A (TTN) ENSP00000340554.6:p.Trp18246Ter
ENST00000342992.10:c.73653G>A (TTN) ENSP00000343764.6:p.Trp24551Ter
ENST00000342992.11:c.73653G>A (TTN) ENSP00000343764.6:p.Trp24551Ter
ENST00000359218.10:c.54537G>A (TTN) ENSP00000352154.5:p.Trp18179Ter
ENST00000359218.9:c.54537G>A (TTN) ENSP00000352154.5:p.Trp18179Ter
ENST00000460472.6:c.54162G>A (TTN) ENSP00000434586.1:p.Trp18054Ter
ENST00000591111.5:c.76434G>A (TTN) ENSP00000465570.1:p.Trp25478Ter
ENST00000615779.4:c.76434G>A (TTN) ENSP00000483597.1:p.Trp25478Ter
XM_011511729.1:c.80454G>A (TTN) XP_011510031.1:p.Trp26818Ter
XM_011511730.1:c.54348G>A (TTN) XP_011510032.1:p.Trp18116Ter
XM_011511731.1:c.54207G>A (TTN) XP_011510033.1:p.Trp18069Ter
XM_017004819.1:c.80250G>A (TTN) XP_016860308.1:p.Trp26750Ter
XM_017004820.1:c.75648G>A (TTN) XP_016860309.1:p.Trp25216Ter
XM_017004821.1:c.75645G>A (TTN) XP_016860310.1:p.Trp25215Ter
XM_017004822.1:c.72687G>A (TTN) XP_016860311.1:p.Trp24229Ter
XM_017004823.1:c.54303G>A (TTN) XP_016860312.1:p.Trp18101Ter
XM_024453094.1:c.75798G>A (TTN) XP_024308862.1:p.Trp25266Ter
XM_024453095.1:c.75795G>A (TTN) XP_024308863.1:p.Trp25265Ter
XM_024453096.1:c.75228G>A (TTN) XP_024308864.1:p.Trp25076Ter
XM_024453097.1:c.72570G>A (TTN) XP_024308865.1:p.Trp24190Ter
XM_024453098.1:c.72489G>A (TTN) XP_024308866.1:p.Trp24163Ter
XM_024453099.1:c.54252G>A (TTN) XP_024308867.1:p.Trp18084Ter
XM_024453100.1:c.44106G>A (TTN) XP_024308868.1:p.Trp14702Ter