Canonical Allele Identifier: CA309290
Community Standard Title: NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178590170G>A , CM000664.2:g.178590170G>A GRCh38
NC_000002.11:g.179454897G>A , CM000664.1:g.179454897G>A GRCh37
NC_000002.10:g.179163143G>A NCBI36
NG_011618.3:g.245633C>T , LRG_391:g.245633C>T
NG_051363.1:g.72344G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.61555C>T (TTN) MANE Select NP_001254479.2:p.Arg20519Ter
ENST00000589042.5:c.61555C>T (TTN) MANE Select ENSP00000467141.1:p.Arg20519Ter
NM_001256850.1:c.56632C>T (TTN) NP_001243779.1:p.Arg18878Ter
NM_003319.4:c.34360C>T (TTN) NP_003310.4:p.Arg11454Ter
NM_133378.4:c.53851C>T (TTN) NP_596869.4:p.Arg17951Ter
NM_133432.3:c.34735C>T (TTN) NP_597676.3:p.Arg11579Ter
NM_133437.4:c.34936C>T (TTN) NP_597681.4:p.Arg11646Ter
NR_038271.1:n.597-7426G>A (TTN-AS1)
NR_038272.1:n.3189-969G>A (TTN-AS1)
ENST00000342175.10:c.34936C>T (TTN) ENSP00000340554.6:p.Arg11646Ter
ENST00000342175.11:c.34936C>T (TTN) ENSP00000340554.6:p.Arg11646Ter
ENST00000342992.10:c.53851C>T (TTN) ENSP00000343764.6:p.Arg17951Ter
ENST00000342992.11:c.53851C>T (TTN) ENSP00000343764.6:p.Arg17951Ter
ENST00000359218.10:c.34735C>T (TTN) ENSP00000352154.5:p.Arg11579Ter
ENST00000359218.9:c.34735C>T (TTN) ENSP00000352154.5:p.Arg11579Ter
ENST00000460472.6:c.34360C>T (TTN) ENSP00000434586.1:p.Arg11454Ter
ENST00000591111.5:c.56632C>T (TTN) ENSP00000465570.1:p.Arg18878Ter
ENST00000615779.4:c.56632C>T (TTN) ENSP00000483597.1:p.Arg18878Ter
XM_011511729.1:c.60652C>T (TTN) XP_011510031.1:p.Arg20218Ter
XM_011511730.1:c.34546C>T (TTN) XP_011510032.1:p.Arg11516Ter
XM_011511731.1:c.34405C>T (TTN) XP_011510033.1:p.Arg11469Ter
XM_017004819.1:c.60448C>T (TTN) XP_016860308.1:p.Arg20150Ter
XM_017004820.1:c.55846C>T (TTN) XP_016860309.1:p.Arg18616Ter
XM_017004821.1:c.55843C>T (TTN) XP_016860310.1:p.Arg18615Ter
XM_017004822.1:c.52885C>T (TTN) XP_016860311.1:p.Arg17629Ter
XM_017004823.1:c.34501C>T (TTN) XP_016860312.1:p.Arg11501Ter
XM_024453094.1:c.55996C>T (TTN) XP_024308862.1:p.Arg18666Ter
XM_024453095.1:c.55993C>T (TTN) XP_024308863.1:p.Arg18665Ter
XM_024453096.1:c.55426C>T (TTN) XP_024308864.1:p.Arg18476Ter
XM_024453097.1:c.52768C>T (TTN) XP_024308865.1:p.Arg17590Ter
XM_024453098.1:c.52687C>T (TTN) XP_024308866.1:p.Arg17563Ter
XM_024453099.1:c.34450C>T (TTN) XP_024308867.1:p.Arg11484Ter
XM_024453100.1:c.24304C>T (TTN) XP_024308868.1:p.Arg8102Ter