Canonical Allele Identifier: CA349412882
Community Standard Title: NM_001267550.2(TTN):c.103945C>T (p.Arg34649Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532670G>A , CM000664.2:g.178532670G>A GRCh38
NC_000002.11:g.179397397G>A , CM000664.1:g.179397397G>A GRCh37
NC_000002.10:g.179105643G>A NCBI36
NG_011618.3:g.303133C>T , LRG_391:g.303133C>T
NG_051363.1:g.14844G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.103945C>T (TTN) MANE Select NP_001254479.2:p.Arg34649Ter
ENST00000589042.5:c.103945C>T (TTN) MANE Select ENSP00000467141.1:p.Arg34649Ter
NM_001256850.1:c.99022C>T (TTN) NP_001243779.1:p.Arg33008Ter
NM_003319.4:c.76750C>T (TTN) NP_003310.4:p.Arg25584Ter
NM_133378.4:c.96241C>T (TTN) NP_596869.4:p.Arg32081Ter
NM_133432.3:c.77125C>T (TTN) NP_597676.3:p.Arg25709Ter
NM_133437.4:c.77326C>T (TTN) NP_597681.4:p.Arg25776Ter
NR_038271.1:n.446+9034G>A (TTN-AS1)
NR_038272.1:n.220-3062G>A (TTN-AS1)
ENST00000342175.10:c.77326C>T (TTN) ENSP00000340554.6:p.Arg25776Ter
ENST00000342175.11:c.77326C>T (TTN) ENSP00000340554.6:p.Arg25776Ter
ENST00000342992.10:c.96241C>T (TTN) ENSP00000343764.6:p.Arg32081Ter
ENST00000342992.11:c.96241C>T (TTN) ENSP00000343764.6:p.Arg32081Ter
ENST00000359218.10:c.77125C>T (TTN) ENSP00000352154.5:p.Arg25709Ter
ENST00000359218.9:c.77125C>T (TTN) ENSP00000352154.5:p.Arg25709Ter
ENST00000460472.6:c.76750C>T (TTN) ENSP00000434586.1:p.Arg25584Ter
ENST00000591111.5:c.99022C>T (TTN) ENSP00000465570.1:p.Arg33008Ter
ENST00000615779.4:c.99022C>T (TTN) ENSP00000483597.1:p.Arg33008Ter
XM_011511729.1:c.103042C>T (TTN) XP_011510031.1:p.Arg34348Ter
XM_011511730.1:c.76936C>T (TTN) XP_011510032.1:p.Arg25646Ter
XM_011511731.1:c.76795C>T (TTN) XP_011510033.1:p.Arg25599Ter
XM_017004819.1:c.102838C>T (TTN) XP_016860308.1:p.Arg34280Ter
XM_017004820.1:c.98236C>T (TTN) XP_016860309.1:p.Arg32746Ter
XM_017004821.1:c.98233C>T (TTN) XP_016860310.1:p.Arg32745Ter
XM_017004822.1:c.95275C>T (TTN) XP_016860311.1:p.Arg31759Ter
XM_017004823.1:c.76891C>T (TTN) XP_016860312.1:p.Arg25631Ter
XM_024453094.1:c.98386C>T (TTN) XP_024308862.1:p.Arg32796Ter
XM_024453095.1:c.98383C>T (TTN) XP_024308863.1:p.Arg32795Ter
XM_024453096.1:c.97816C>T (TTN) XP_024308864.1:p.Arg32606Ter
XM_024453097.1:c.95158C>T (TTN) XP_024308865.1:p.Arg31720Ter
XM_024453098.1:c.95077C>T (TTN) XP_024308866.1:p.Arg31693Ter
XM_024453099.1:c.76840C>T (TTN) XP_024308867.1:p.Arg25614Ter
XM_024453100.1:c.66694C>T (TTN) XP_024308868.1:p.Arg22232Ter