Canonical Allele Identifier: CA349417825
Community Standard Title: NM_001267550.2(TTN):c.102352C>T (p.Arg34118Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534263G>A , CM000664.2:g.178534263G>A GRCh38
NC_000002.11:g.179398990G>A , CM000664.1:g.179398990G>A GRCh37
NC_000002.10:g.179107236G>A NCBI36
NG_011618.3:g.301540C>T , LRG_391:g.301540C>T
NG_051363.1:g.16437G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.102352C>T (TTN) MANE Select NP_001254479.2:p.Arg34118Ter
ENST00000589042.5:c.102352C>T (TTN) MANE Select ENSP00000467141.1:p.Arg34118Ter
NM_001256850.1:c.97429C>T (TTN) NP_001243779.1:p.Arg32477Ter
NM_003319.4:c.75157C>T (TTN) NP_003310.4:p.Arg25053Ter
NM_133378.4:c.94648C>T (TTN) NP_596869.4:p.Arg31550Ter
NM_133432.3:c.75532C>T (TTN) NP_597676.3:p.Arg25178Ter
NM_133437.4:c.75733C>T (TTN) NP_597681.4:p.Arg25245Ter
NR_038271.1:n.446+10627G>A (TTN-AS1)
NR_038272.1:n.220-1469G>A (TTN-AS1)
ENST00000342175.10:c.75733C>T (TTN) ENSP00000340554.6:p.Arg25245Ter
ENST00000342175.11:c.75733C>T (TTN) ENSP00000340554.6:p.Arg25245Ter
ENST00000342992.10:c.94648C>T (TTN) ENSP00000343764.6:p.Arg31550Ter
ENST00000342992.11:c.94648C>T (TTN) ENSP00000343764.6:p.Arg31550Ter
ENST00000359218.10:c.75532C>T (TTN) ENSP00000352154.5:p.Arg25178Ter
ENST00000359218.9:c.75532C>T (TTN) ENSP00000352154.5:p.Arg25178Ter
ENST00000460472.6:c.75157C>T (TTN) ENSP00000434586.1:p.Arg25053Ter
ENST00000591111.5:c.97429C>T (TTN) ENSP00000465570.1:p.Arg32477Ter
ENST00000615779.4:c.97429C>T (TTN) ENSP00000483597.1:p.Arg32477Ter
XM_011511729.1:c.101449C>T (TTN) XP_011510031.1:p.Arg33817Ter
XM_011511730.1:c.75343C>T (TTN) XP_011510032.1:p.Arg25115Ter
XM_011511731.1:c.75202C>T (TTN) XP_011510033.1:p.Arg25068Ter
XM_017004819.1:c.101245C>T (TTN) XP_016860308.1:p.Arg33749Ter
XM_017004820.1:c.96643C>T (TTN) XP_016860309.1:p.Arg32215Ter
XM_017004821.1:c.96640C>T (TTN) XP_016860310.1:p.Arg32214Ter
XM_017004822.1:c.93682C>T (TTN) XP_016860311.1:p.Arg31228Ter
XM_017004823.1:c.75298C>T (TTN) XP_016860312.1:p.Arg25100Ter
XM_024453094.1:c.96793C>T (TTN) XP_024308862.1:p.Arg32265Ter
XM_024453095.1:c.96790C>T (TTN) XP_024308863.1:p.Arg32264Ter
XM_024453096.1:c.96223C>T (TTN) XP_024308864.1:p.Arg32075Ter
XM_024453097.1:c.93565C>T (TTN) XP_024308865.1:p.Arg31189Ter
XM_024453098.1:c.93484C>T (TTN) XP_024308866.1:p.Arg31162Ter
XM_024453099.1:c.75247C>T (TTN) XP_024308867.1:p.Arg25083Ter
XM_024453100.1:c.65101C>T (TTN) XP_024308868.1:p.Arg21701Ter