Canonical Allele Identifier: CA349575082
Community Standard Title: NM_001267550.2(TTN):c.82172G>A (p.Trp27391Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178563960C>T , CM000664.2:g.178563960C>T GRCh38
NC_000002.11:g.179428687C>T , CM000664.1:g.179428687C>T GRCh37
NC_000002.10:g.179136933C>T NCBI36
NG_011618.3:g.271843G>A , LRG_391:g.271843G>A
NG_051363.1:g.46134C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.82172G>A (TTN) MANE Select NP_001254479.2:p.Trp27391Ter
ENST00000589042.5:c.82172G>A (TTN) MANE Select ENSP00000467141.1:p.Trp27391Ter
NM_001256850.1:c.77249G>A (TTN) NP_001243779.1:p.Trp25750Ter
NM_003319.4:c.54977G>A (TTN) NP_003310.4:p.Trp18326Ter
NM_133378.4:c.74468G>A (TTN) NP_596869.4:p.Trp24823Ter
NM_133432.3:c.55352G>A (TTN) NP_597676.3:p.Trp18451Ter
NM_133437.4:c.55553G>A (TTN) NP_597681.4:p.Trp18518Ter
NR_038271.1:n.447-7340C>T (TTN-AS1)
NR_038272.1:n.2044-18612C>T (TTN-AS1)
ENST00000342175.10:c.55553G>A (TTN) ENSP00000340554.6:p.Trp18518Ter
ENST00000342175.11:c.55553G>A (TTN) ENSP00000340554.6:p.Trp18518Ter
ENST00000342992.10:c.74468G>A (TTN) ENSP00000343764.6:p.Trp24823Ter
ENST00000342992.11:c.74468G>A (TTN) ENSP00000343764.6:p.Trp24823Ter
ENST00000359218.10:c.55352G>A (TTN) ENSP00000352154.5:p.Trp18451Ter
ENST00000359218.9:c.55352G>A (TTN) ENSP00000352154.5:p.Trp18451Ter
ENST00000460472.6:c.54977G>A (TTN) ENSP00000434586.1:p.Trp18326Ter
ENST00000591111.5:c.77249G>A (TTN) ENSP00000465570.1:p.Trp25750Ter
ENST00000615779.4:c.77249G>A (TTN) ENSP00000483597.1:p.Trp25750Ter
XM_011511729.1:c.81269G>A (TTN) XP_011510031.1:p.Trp27090Ter
XM_011511730.1:c.55163G>A (TTN) XP_011510032.1:p.Trp18388Ter
XM_011511731.1:c.55022G>A (TTN) XP_011510033.1:p.Trp18341Ter
XM_017004819.1:c.81065G>A (TTN) XP_016860308.1:p.Trp27022Ter
XM_017004820.1:c.76463G>A (TTN) XP_016860309.1:p.Trp25488Ter
XM_017004821.1:c.76460G>A (TTN) XP_016860310.1:p.Trp25487Ter
XM_017004822.1:c.73502G>A (TTN) XP_016860311.1:p.Trp24501Ter
XM_017004823.1:c.55118G>A (TTN) XP_016860312.1:p.Trp18373Ter
XM_024453094.1:c.76613G>A (TTN) XP_024308862.1:p.Trp25538Ter
XM_024453095.1:c.76610G>A (TTN) XP_024308863.1:p.Trp25537Ter
XM_024453096.1:c.76043G>A (TTN) XP_024308864.1:p.Trp25348Ter
XM_024453097.1:c.73385G>A (TTN) XP_024308865.1:p.Trp24462Ter
XM_024453098.1:c.73304G>A (TTN) XP_024308866.1:p.Trp24435Ter
XM_024453099.1:c.55067G>A (TTN) XP_024308867.1:p.Trp18356Ter
XM_024453100.1:c.44921G>A (TTN) XP_024308868.1:p.Trp14974Ter