Canonical Allele Identifier: CA349605985
Community Standard Title: NM_001267550.2(TTN):c.77605G>T (p.Gly25869Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568527C>A , CM000664.2:g.178568527C>A GRCh38
NC_000002.11:g.179433254C>A , CM000664.1:g.179433254C>A GRCh37
NC_000002.10:g.179141500C>A NCBI36
NG_011618.3:g.267276G>T , LRG_391:g.267276G>T
NG_051363.1:g.50701C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.77605G>T (TTN) MANE Select NP_001254479.2:p.Gly25869Ter
ENST00000589042.5:c.77605G>T (TTN) MANE Select ENSP00000467141.1:p.Gly25869Ter
NM_001256850.1:c.72682G>T (TTN) NP_001243779.1:p.Gly24228Ter
NM_003319.4:c.50410G>T (TTN) NP_003310.4:p.Gly16804Ter
NM_133378.4:c.69901G>T (TTN) NP_596869.4:p.Gly23301Ter
NM_133432.3:c.50785G>T (TTN) NP_597676.3:p.Gly16929Ter
NM_133437.4:c.50986G>T (TTN) NP_597681.4:p.Gly16996Ter
NR_038271.1:n.447-2773C>A (TTN-AS1)
NR_038272.1:n.2044-14045C>A (TTN-AS1)
ENST00000342175.10:c.50986G>T (TTN) ENSP00000340554.6:p.Gly16996Ter
ENST00000342175.11:c.50986G>T (TTN) ENSP00000340554.6:p.Gly16996Ter
ENST00000342992.10:c.69901G>T (TTN) ENSP00000343764.6:p.Gly23301Ter
ENST00000342992.11:c.69901G>T (TTN) ENSP00000343764.6:p.Gly23301Ter
ENST00000359218.10:c.50785G>T (TTN) ENSP00000352154.5:p.Gly16929Ter
ENST00000359218.9:c.50785G>T (TTN) ENSP00000352154.5:p.Gly16929Ter
ENST00000460472.6:c.50410G>T (TTN) ENSP00000434586.1:p.Gly16804Ter
ENST00000591111.5:c.72682G>T (TTN) ENSP00000465570.1:p.Gly24228Ter
ENST00000615779.4:c.72682G>T (TTN) ENSP00000483597.1:p.Gly24228Ter
XM_011511729.1:c.76702G>T (TTN) XP_011510031.1:p.Gly25568Ter
XM_011511730.1:c.50596G>T (TTN) XP_011510032.1:p.Gly16866Ter
XM_011511731.1:c.50455G>T (TTN) XP_011510033.1:p.Gly16819Ter
XM_017004819.1:c.76498G>T (TTN) XP_016860308.1:p.Gly25500Ter
XM_017004820.1:c.71896G>T (TTN) XP_016860309.1:p.Gly23966Ter
XM_017004821.1:c.71893G>T (TTN) XP_016860310.1:p.Gly23965Ter
XM_017004822.1:c.68935G>T (TTN) XP_016860311.1:p.Gly22979Ter
XM_017004823.1:c.50551G>T (TTN) XP_016860312.1:p.Gly16851Ter
XM_024453094.1:c.72046G>T (TTN) XP_024308862.1:p.Gly24016Ter
XM_024453095.1:c.72043G>T (TTN) XP_024308863.1:p.Gly24015Ter
XM_024453096.1:c.71476G>T (TTN) XP_024308864.1:p.Gly23826Ter
XM_024453097.1:c.68818G>T (TTN) XP_024308865.1:p.Gly22940Ter
XM_024453098.1:c.68737G>T (TTN) XP_024308866.1:p.Gly22913Ter
XM_024453099.1:c.50500G>T (TTN) XP_024308867.1:p.Gly16834Ter
XM_024453100.1:c.40354G>T (TTN) XP_024308868.1:p.Gly13452Ter