Canonical Allele Identifier: CA349474056
Community Standard Title: NM_001267550.2(TTN):c.61290T>A (p.Cys20430Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178590435A>T , CM000664.2:g.178590435A>T GRCh38
NC_000002.11:g.179455162A>T , CM000664.1:g.179455162A>T GRCh37
NC_000002.10:g.179163408A>T NCBI36
NG_011618.3:g.245368T>A , LRG_391:g.245368T>A
NG_051363.1:g.72609A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.61290T>A (TTN) MANE Select NP_001254479.2:p.Cys20430Ter
ENST00000589042.5:c.61290T>A (TTN) MANE Select ENSP00000467141.1:p.Cys20430Ter
NM_001256850.1:c.56367T>A (TTN) NP_001243779.1:p.Cys18789Ter
NM_003319.4:c.34095T>A (TTN) NP_003310.4:p.Cys11365Ter
NM_133378.4:c.53586T>A (TTN) NP_596869.4:p.Cys17862Ter
NM_133432.3:c.34470T>A (TTN) NP_597676.3:p.Cys11490Ter
NM_133437.4:c.34671T>A (TTN) NP_597681.4:p.Cys11557Ter
NR_038271.1:n.597-7161A>T (TTN-AS1)
NR_038272.1:n.3189-704A>T (TTN-AS1)
ENST00000342175.10:c.34671T>A (TTN) ENSP00000340554.6:p.Cys11557Ter
ENST00000342175.11:c.34671T>A (TTN) ENSP00000340554.6:p.Cys11557Ter
ENST00000342992.10:c.53586T>A (TTN) ENSP00000343764.6:p.Cys17862Ter
ENST00000342992.11:c.53586T>A (TTN) ENSP00000343764.6:p.Cys17862Ter
ENST00000359218.10:c.34470T>A (TTN) ENSP00000352154.5:p.Cys11490Ter
ENST00000359218.9:c.34470T>A (TTN) ENSP00000352154.5:p.Cys11490Ter
ENST00000460472.6:c.34095T>A (TTN) ENSP00000434586.1:p.Cys11365Ter
ENST00000591111.5:c.56367T>A (TTN) ENSP00000465570.1:p.Cys18789Ter
ENST00000615779.4:c.56367T>A (TTN) ENSP00000483597.1:p.Cys18789Ter
XM_011511729.1:c.60387T>A (TTN) XP_011510031.1:p.Cys20129Ter
XM_011511730.1:c.34281T>A (TTN) XP_011510032.1:p.Cys11427Ter
XM_011511731.1:c.34140T>A (TTN) XP_011510033.1:p.Cys11380Ter
XM_017004819.1:c.60183T>A (TTN) XP_016860308.1:p.Cys20061Ter
XM_017004820.1:c.55581T>A (TTN) XP_016860309.1:p.Cys18527Ter
XM_017004821.1:c.55578T>A (TTN) XP_016860310.1:p.Cys18526Ter
XM_017004822.1:c.52620T>A (TTN) XP_016860311.1:p.Cys17540Ter
XM_017004823.1:c.34236T>A (TTN) XP_016860312.1:p.Cys11412Ter
XM_024453094.1:c.55731T>A (TTN) XP_024308862.1:p.Cys18577Ter
XM_024453095.1:c.55728T>A (TTN) XP_024308863.1:p.Cys18576Ter
XM_024453096.1:c.55161T>A (TTN) XP_024308864.1:p.Cys18387Ter
XM_024453097.1:c.52503T>A (TTN) XP_024308865.1:p.Cys17501Ter
XM_024453098.1:c.52422T>A (TTN) XP_024308866.1:p.Cys17474Ter
XM_024453099.1:c.34185T>A (TTN) XP_024308867.1:p.Cys11395Ter
XM_024453100.1:c.24039T>A (TTN) XP_024308868.1:p.Cys8013Ter