Canonical Allele Identifier: CA349555326
Community Standard Title: NM_001267550.2(TTN):c.85173G>A (p.Trp28391Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178560959C>T , CM000664.2:g.178560959C>T GRCh38
NC_000002.11:g.179425686C>T , CM000664.1:g.179425686C>T GRCh37
NC_000002.10:g.179133932C>T NCBI36
NG_011618.3:g.274844G>A , LRG_391:g.274844G>A
NG_051363.1:g.43133C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.85173G>A (TTN) MANE Select NP_001254479.2:p.Trp28391Ter
ENST00000589042.5:c.85173G>A (TTN) MANE Select ENSP00000467141.1:p.Trp28391Ter
NM_001256850.1:c.80250G>A (TTN) NP_001243779.1:p.Trp26750Ter
NM_003319.4:c.57978G>A (TTN) NP_003310.4:p.Trp19326Ter
NM_133378.4:c.77469G>A (TTN) NP_596869.4:p.Trp25823Ter
NM_133432.3:c.58353G>A (TTN) NP_597676.3:p.Trp19451Ter
NM_133437.4:c.58554G>A (TTN) NP_597681.4:p.Trp19518Ter
NR_038271.1:n.447-10341C>T (TTN-AS1)
NR_038272.1:n.2043+18598C>T (TTN-AS1)
ENST00000342175.10:c.58554G>A (TTN) ENSP00000340554.6:p.Trp19518Ter
ENST00000342175.11:c.58554G>A (TTN) ENSP00000340554.6:p.Trp19518Ter
ENST00000342992.10:c.77469G>A (TTN) ENSP00000343764.6:p.Trp25823Ter
ENST00000342992.11:c.77469G>A (TTN) ENSP00000343764.6:p.Trp25823Ter
ENST00000359218.10:c.58353G>A (TTN) ENSP00000352154.5:p.Trp19451Ter
ENST00000359218.9:c.58353G>A (TTN) ENSP00000352154.5:p.Trp19451Ter
ENST00000460472.6:c.57978G>A (TTN) ENSP00000434586.1:p.Trp19326Ter
ENST00000591111.5:c.80250G>A (TTN) ENSP00000465570.1:p.Trp26750Ter
ENST00000615779.4:c.80250G>A (TTN) ENSP00000483597.1:p.Trp26750Ter
XM_011511729.1:c.84270G>A (TTN) XP_011510031.1:p.Trp28090Ter
XM_011511730.1:c.58164G>A (TTN) XP_011510032.1:p.Trp19388Ter
XM_011511731.1:c.58023G>A (TTN) XP_011510033.1:p.Trp19341Ter
XM_017004819.1:c.84066G>A (TTN) XP_016860308.1:p.Trp28022Ter
XM_017004820.1:c.79464G>A (TTN) XP_016860309.1:p.Trp26488Ter
XM_017004821.1:c.79461G>A (TTN) XP_016860310.1:p.Trp26487Ter
XM_017004822.1:c.76503G>A (TTN) XP_016860311.1:p.Trp25501Ter
XM_017004823.1:c.58119G>A (TTN) XP_016860312.1:p.Trp19373Ter
XM_024453094.1:c.79614G>A (TTN) XP_024308862.1:p.Trp26538Ter
XM_024453095.1:c.79611G>A (TTN) XP_024308863.1:p.Trp26537Ter
XM_024453096.1:c.79044G>A (TTN) XP_024308864.1:p.Trp26348Ter
XM_024453097.1:c.76386G>A (TTN) XP_024308865.1:p.Trp25462Ter
XM_024453098.1:c.76305G>A (TTN) XP_024308866.1:p.Trp25435Ter
XM_024453099.1:c.58068G>A (TTN) XP_024308867.1:p.Trp19356Ter
XM_024453100.1:c.47922G>A (TTN) XP_024308868.1:p.Trp15974Ter