Canonical Allele Identifier: CA349559569
Community Standard Title: NM_001267550.2(TTN):c.84524G>A (p.Trp28175Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178561608C>T , CM000664.2:g.178561608C>T GRCh38
NC_000002.11:g.179426335C>T , CM000664.1:g.179426335C>T GRCh37
NC_000002.10:g.179134581C>T NCBI36
NG_011618.3:g.274195G>A , LRG_391:g.274195G>A
NG_051363.1:g.43782C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.84524G>A (TTN) MANE Select NP_001254479.2:p.Trp28175Ter
ENST00000589042.5:c.84524G>A (TTN) MANE Select ENSP00000467141.1:p.Trp28175Ter
NM_001256850.1:c.79601G>A (TTN) NP_001243779.1:p.Trp26534Ter
NM_003319.4:c.57329G>A (TTN) NP_003310.4:p.Trp19110Ter
NM_133378.4:c.76820G>A (TTN) NP_596869.4:p.Trp25607Ter
NM_133432.3:c.57704G>A (TTN) NP_597676.3:p.Trp19235Ter
NM_133437.4:c.57905G>A (TTN) NP_597681.4:p.Trp19302Ter
NR_038271.1:n.447-9692C>T (TTN-AS1)
NR_038272.1:n.2043+19247C>T (TTN-AS1)
ENST00000342175.10:c.57905G>A (TTN) ENSP00000340554.6:p.Trp19302Ter
ENST00000342175.11:c.57905G>A (TTN) ENSP00000340554.6:p.Trp19302Ter
ENST00000342992.10:c.76820G>A (TTN) ENSP00000343764.6:p.Trp25607Ter
ENST00000342992.11:c.76820G>A (TTN) ENSP00000343764.6:p.Trp25607Ter
ENST00000359218.10:c.57704G>A (TTN) ENSP00000352154.5:p.Trp19235Ter
ENST00000359218.9:c.57704G>A (TTN) ENSP00000352154.5:p.Trp19235Ter
ENST00000460472.6:c.57329G>A (TTN) ENSP00000434586.1:p.Trp19110Ter
ENST00000591111.5:c.79601G>A (TTN) ENSP00000465570.1:p.Trp26534Ter
ENST00000615779.4:c.79601G>A (TTN) ENSP00000483597.1:p.Trp26534Ter
XM_011511729.1:c.83621G>A (TTN) XP_011510031.1:p.Trp27874Ter
XM_011511730.1:c.57515G>A (TTN) XP_011510032.1:p.Trp19172Ter
XM_011511731.1:c.57374G>A (TTN) XP_011510033.1:p.Trp19125Ter
XM_017004819.1:c.83417G>A (TTN) XP_016860308.1:p.Trp27806Ter
XM_017004820.1:c.78815G>A (TTN) XP_016860309.1:p.Trp26272Ter
XM_017004821.1:c.78812G>A (TTN) XP_016860310.1:p.Trp26271Ter
XM_017004822.1:c.75854G>A (TTN) XP_016860311.1:p.Trp25285Ter
XM_017004823.1:c.57470G>A (TTN) XP_016860312.1:p.Trp19157Ter
XM_024453094.1:c.78965G>A (TTN) XP_024308862.1:p.Trp26322Ter
XM_024453095.1:c.78962G>A (TTN) XP_024308863.1:p.Trp26321Ter
XM_024453096.1:c.78395G>A (TTN) XP_024308864.1:p.Trp26132Ter
XM_024453097.1:c.75737G>A (TTN) XP_024308865.1:p.Trp25246Ter
XM_024453098.1:c.75656G>A (TTN) XP_024308866.1:p.Trp25219Ter
XM_024453099.1:c.57419G>A (TTN) XP_024308867.1:p.Trp19140Ter
XM_024453100.1:c.47273G>A (TTN) XP_024308868.1:p.Trp15758Ter