Canonical Allele Identifier: CA349662931
Community Standard Title: NM_001267550.2(TTN):c.70467C>A (p.Cys23489Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178575665G>T , CM000664.2:g.178575665G>T GRCh38
NC_000002.11:g.179440392G>T , CM000664.1:g.179440392G>T GRCh37
NC_000002.10:g.179148638G>T NCBI36
NG_011618.3:g.260138C>A , LRG_391:g.260138C>A
NG_051363.1:g.57839G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.70467C>A (TTN) MANE Select NP_001254479.2:p.Cys23489Ter
ENST00000589042.5:c.70467C>A (TTN) MANE Select ENSP00000467141.1:p.Cys23489Ter
NM_001256850.1:c.65544C>A (TTN) NP_001243779.1:p.Cys21848Ter
NM_003319.4:c.43272C>A (TTN) NP_003310.4:p.Cys14424Ter
NM_133378.4:c.62763C>A (TTN) NP_596869.4:p.Cys20921Ter
NM_133432.3:c.43647C>A (TTN) NP_597676.3:p.Cys14549Ter
NM_133437.4:c.43848C>A (TTN) NP_597681.4:p.Cys14616Ter
NR_038271.1:n.596+4216G>T (TTN-AS1)
NR_038272.1:n.2044-6907G>T (TTN-AS1)
ENST00000342175.10:c.43848C>A (TTN) ENSP00000340554.6:p.Cys14616Ter
ENST00000342175.11:c.43848C>A (TTN) ENSP00000340554.6:p.Cys14616Ter
ENST00000342992.10:c.62763C>A (TTN) ENSP00000343764.6:p.Cys20921Ter
ENST00000342992.11:c.62763C>A (TTN) ENSP00000343764.6:p.Cys20921Ter
ENST00000359218.10:c.43647C>A (TTN) ENSP00000352154.5:p.Cys14549Ter
ENST00000359218.9:c.43647C>A (TTN) ENSP00000352154.5:p.Cys14549Ter
ENST00000460472.6:c.43272C>A (TTN) ENSP00000434586.1:p.Cys14424Ter
ENST00000591111.5:c.65544C>A (TTN) ENSP00000465570.1:p.Cys21848Ter
ENST00000615779.4:c.65544C>A (TTN) ENSP00000483597.1:p.Cys21848Ter
XM_011511729.1:c.69564C>A (TTN) XP_011510031.1:p.Cys23188Ter
XM_011511730.1:c.43458C>A (TTN) XP_011510032.1:p.Cys14486Ter
XM_011511731.1:c.43317C>A (TTN) XP_011510033.1:p.Cys14439Ter
XM_017004819.1:c.69360C>A (TTN) XP_016860308.1:p.Cys23120Ter
XM_017004820.1:c.64758C>A (TTN) XP_016860309.1:p.Cys21586Ter
XM_017004821.1:c.64755C>A (TTN) XP_016860310.1:p.Cys21585Ter
XM_017004822.1:c.61797C>A (TTN) XP_016860311.1:p.Cys20599Ter
XM_017004823.1:c.43413C>A (TTN) XP_016860312.1:p.Cys14471Ter
XM_024453094.1:c.64908C>A (TTN) XP_024308862.1:p.Cys21636Ter
XM_024453095.1:c.64905C>A (TTN) XP_024308863.1:p.Cys21635Ter
XM_024453096.1:c.64338C>A (TTN) XP_024308864.1:p.Cys21446Ter
XM_024453097.1:c.61680C>A (TTN) XP_024308865.1:p.Cys20560Ter
XM_024453098.1:c.61599C>A (TTN) XP_024308866.1:p.Cys20533Ter
XM_024453099.1:c.43362C>A (TTN) XP_024308867.1:p.Cys14454Ter
XM_024453100.1:c.33216C>A (TTN) XP_024308868.1:p.Cys11072Ter