Canonical Allele Identifier: CA349426231
Community Standard Title: NM_001267550.2(TTN):c.100342C>T (p.Arg33448Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178536405G>A , CM000664.2:g.178536405G>A GRCh38
NC_000002.11:g.179401132G>A , CM000664.1:g.179401132G>A GRCh37
NC_000002.10:g.179109378G>A NCBI36
NG_011618.3:g.299398C>T , LRG_391:g.299398C>T
NG_051363.1:g.18579G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.100342C>T (TTN) MANE Select NP_001254479.2:p.Arg33448Ter
ENST00000589042.5:c.100342C>T (TTN) MANE Select ENSP00000467141.1:p.Arg33448Ter
NM_001256850.1:c.95419C>T (TTN) NP_001243779.1:p.Arg31807Ter
NM_003319.4:c.73147C>T (TTN) NP_003310.4:p.Arg24383Ter
NM_133378.4:c.92638C>T (TTN) NP_596869.4:p.Arg30880Ter
NM_133432.3:c.73522C>T (TTN) NP_597676.3:p.Arg24508Ter
NM_133437.4:c.73723C>T (TTN) NP_597681.4:p.Arg24575Ter
NR_038271.1:n.446+12769G>A (TTN-AS1)
NR_038272.1:n.316+577G>A (TTN-AS1)
ENST00000342175.10:c.73723C>T (TTN) ENSP00000340554.6:p.Arg24575Ter
ENST00000342175.11:c.73723C>T (TTN) ENSP00000340554.6:p.Arg24575Ter
ENST00000342992.10:c.92638C>T (TTN) ENSP00000343764.6:p.Arg30880Ter
ENST00000342992.11:c.92638C>T (TTN) ENSP00000343764.6:p.Arg30880Ter
ENST00000359218.10:c.73522C>T (TTN) ENSP00000352154.5:p.Arg24508Ter
ENST00000359218.9:c.73522C>T (TTN) ENSP00000352154.5:p.Arg24508Ter
ENST00000460472.6:c.73147C>T (TTN) ENSP00000434586.1:p.Arg24383Ter
ENST00000591111.5:c.95419C>T (TTN) ENSP00000465570.1:p.Arg31807Ter
ENST00000615779.4:c.95419C>T (TTN) ENSP00000483597.1:p.Arg31807Ter
XM_011511729.1:c.99439C>T (TTN) XP_011510031.1:p.Arg33147Ter
XM_011511730.1:c.73333C>T (TTN) XP_011510032.1:p.Arg24445Ter
XM_011511731.1:c.73192C>T (TTN) XP_011510033.1:p.Arg24398Ter
XM_017004819.1:c.99235C>T (TTN) XP_016860308.1:p.Arg33079Ter
XM_017004820.1:c.94633C>T (TTN) XP_016860309.1:p.Arg31545Ter
XM_017004821.1:c.94630C>T (TTN) XP_016860310.1:p.Arg31544Ter
XM_017004822.1:c.91672C>T (TTN) XP_016860311.1:p.Arg30558Ter
XM_017004823.1:c.73288C>T (TTN) XP_016860312.1:p.Arg24430Ter
XM_024453094.1:c.94783C>T (TTN) XP_024308862.1:p.Arg31595Ter
XM_024453095.1:c.94780C>T (TTN) XP_024308863.1:p.Arg31594Ter
XM_024453096.1:c.94213C>T (TTN) XP_024308864.1:p.Arg31405Ter
XM_024453097.1:c.91555C>T (TTN) XP_024308865.1:p.Arg30519Ter
XM_024453098.1:c.91474C>T (TTN) XP_024308866.1:p.Arg30492Ter
XM_024453099.1:c.73237C>T (TTN) XP_024308867.1:p.Arg24413Ter
XM_024453100.1:c.63091C>T (TTN) XP_024308868.1:p.Arg21031Ter