Canonical Allele Identifier: CA60987368
Community Standard Title: NM_001267550.2(TTN):c.49171C>T (p.Arg16391Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614226G>A , CM000664.2:g.178614226G>A GRCh38
NC_000002.11:g.179478953G>A , CM000664.1:g.179478953G>A GRCh37
NC_000002.10:g.179187198G>A NCBI36
NG_011618.3:g.221577C>T , LRG_391:g.221577C>T
NG_051363.1:g.96400G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.49171C>T (TTN) MANE Select NP_001254479.2:p.Arg16391Ter
ENST00000589042.5:c.49171C>T (TTN) MANE Select ENSP00000467141.1:p.Arg16391Ter
NM_001256850.1:c.44248C>T (TTN) NP_001243779.1:p.Arg14750Ter
NM_003319.4:c.21976C>T (TTN) NP_003310.4:p.Arg7326Ter
NM_133378.4:c.41467C>T (TTN) NP_596869.4:p.Arg13823Ter
NM_133432.3:c.22351C>T (TTN) NP_597676.3:p.Arg7451Ter
NM_133437.4:c.22552C>T (TTN) NP_597681.4:p.Arg7518Ter
NR_038271.1:n.974G>A (TTN-AS1)
ENST00000342175.10:c.22552C>T (TTN) ENSP00000340554.6:p.Arg7518Ter
ENST00000342175.11:c.22552C>T (TTN) ENSP00000340554.6:p.Arg7518Ter
ENST00000342992.10:c.41467C>T (TTN) ENSP00000343764.6:p.Arg13823Ter
ENST00000342992.11:c.41467C>T (TTN) ENSP00000343764.6:p.Arg13823Ter
ENST00000359218.10:c.22351C>T (TTN) ENSP00000352154.5:p.Arg7451Ter
ENST00000359218.9:c.22351C>T (TTN) ENSP00000352154.5:p.Arg7451Ter
ENST00000460472.6:c.21976C>T (TTN) ENSP00000434586.1:p.Arg7326Ter
ENST00000591111.5:c.44248C>T (TTN) ENSP00000465570.1:p.Arg14750Ter
ENST00000615779.4:c.44248C>T (TTN) ENSP00000483597.1:p.Arg14750Ter
XM_011511729.1:c.48268C>T (TTN) XP_011510031.1:p.Arg16090Ter
XM_011511730.1:c.22162C>T (TTN) XP_011510032.1:p.Arg7388Ter
XM_011511731.1:c.22021C>T (TTN) XP_011510033.1:p.Arg7341Ter
XM_017004819.1:c.48064C>T (TTN) XP_016860308.1:p.Arg16022Ter
XM_017004820.1:c.43462C>T (TTN) XP_016860309.1:p.Arg14488Ter
XM_017004821.1:c.43459C>T (TTN) XP_016860310.1:p.Arg14487Ter
XM_017004822.1:c.40501C>T (TTN) XP_016860311.1:p.Arg13501Ter
XM_017004823.1:c.22117C>T (TTN) XP_016860312.1:p.Arg7373Ter
XM_024453094.1:c.43612C>T (TTN) XP_024308862.1:p.Arg14538Ter
XM_024453095.1:c.43609C>T (TTN) XP_024308863.1:p.Arg14537Ter
XM_024453096.1:c.43042C>T (TTN) XP_024308864.1:p.Arg14348Ter
XM_024453097.1:c.40384C>T (TTN) XP_024308865.1:p.Arg13462Ter
XM_024453098.1:c.40303C>T (TTN) XP_024308866.1:p.Arg13435Ter
XM_024453099.1:c.22066C>T (TTN) XP_024308867.1:p.Arg7356Ter
XM_024453100.1:c.11920C>T (TTN) XP_024308868.1:p.Arg3974Ter