Canonical Allele Identifier: CA349553271
Community Standard Title: NM_001267550.2(TTN):c.85494G>A (p.Trp28498Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178560638C>T , CM000664.2:g.178560638C>T GRCh38
NC_000002.11:g.179425365C>T , CM000664.1:g.179425365C>T GRCh37
NC_000002.10:g.179133611C>T NCBI36
NG_011618.3:g.275165G>A , LRG_391:g.275165G>A
NG_051363.1:g.42812C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.85494G>A (TTN) MANE Select NP_001254479.2:p.Trp28498Ter
ENST00000589042.5:c.85494G>A (TTN) MANE Select ENSP00000467141.1:p.Trp28498Ter
NM_001256850.1:c.80571G>A (TTN) NP_001243779.1:p.Trp26857Ter
NM_003319.4:c.58299G>A (TTN) NP_003310.4:p.Trp19433Ter
NM_133378.4:c.77790G>A (TTN) NP_596869.4:p.Trp25930Ter
NM_133432.3:c.58674G>A (TTN) NP_597676.3:p.Trp19558Ter
NM_133437.4:c.58875G>A (TTN) NP_597681.4:p.Trp19625Ter
NR_038271.1:n.447-10662C>T (TTN-AS1)
NR_038272.1:n.2043+18277C>T (TTN-AS1)
ENST00000342175.10:c.58875G>A (TTN) ENSP00000340554.6:p.Trp19625Ter
ENST00000342175.11:c.58875G>A (TTN) ENSP00000340554.6:p.Trp19625Ter
ENST00000342992.10:c.77790G>A (TTN) ENSP00000343764.6:p.Trp25930Ter
ENST00000342992.11:c.77790G>A (TTN) ENSP00000343764.6:p.Trp25930Ter
ENST00000359218.10:c.58674G>A (TTN) ENSP00000352154.5:p.Trp19558Ter
ENST00000359218.9:c.58674G>A (TTN) ENSP00000352154.5:p.Trp19558Ter
ENST00000460472.6:c.58299G>A (TTN) ENSP00000434586.1:p.Trp19433Ter
ENST00000591111.5:c.80571G>A (TTN) ENSP00000465570.1:p.Trp26857Ter
ENST00000615779.4:c.80571G>A (TTN) ENSP00000483597.1:p.Trp26857Ter
XM_011511729.1:c.84591G>A (TTN) XP_011510031.1:p.Trp28197Ter
XM_011511730.1:c.58485G>A (TTN) XP_011510032.1:p.Trp19495Ter
XM_011511731.1:c.58344G>A (TTN) XP_011510033.1:p.Trp19448Ter
XM_017004819.1:c.84387G>A (TTN) XP_016860308.1:p.Trp28129Ter
XM_017004820.1:c.79785G>A (TTN) XP_016860309.1:p.Trp26595Ter
XM_017004821.1:c.79782G>A (TTN) XP_016860310.1:p.Trp26594Ter
XM_017004822.1:c.76824G>A (TTN) XP_016860311.1:p.Trp25608Ter
XM_017004823.1:c.58440G>A (TTN) XP_016860312.1:p.Trp19480Ter
XM_024453094.1:c.79935G>A (TTN) XP_024308862.1:p.Trp26645Ter
XM_024453095.1:c.79932G>A (TTN) XP_024308863.1:p.Trp26644Ter
XM_024453096.1:c.79365G>A (TTN) XP_024308864.1:p.Trp26455Ter
XM_024453097.1:c.76707G>A (TTN) XP_024308865.1:p.Trp25569Ter
XM_024453098.1:c.76626G>A (TTN) XP_024308866.1:p.Trp25542Ter
XM_024453099.1:c.58389G>A (TTN) XP_024308867.1:p.Trp19463Ter
XM_024453100.1:c.48243G>A (TTN) XP_024308868.1:p.Trp16081Ter