Canonical Allele Identifier: CA349604823
Community Standard Title: NM_001267550.2(TTN):c.77785C>T (p.Gln25929Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568347G>A , CM000664.2:g.178568347G>A GRCh38
NC_000002.11:g.179433074G>A , CM000664.1:g.179433074G>A GRCh37
NC_000002.10:g.179141320G>A NCBI36
NG_011618.3:g.267456C>T , LRG_391:g.267456C>T
NG_051363.1:g.50521G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.77785C>T (TTN) MANE Select NP_001254479.2:p.Gln25929Ter
ENST00000589042.5:c.77785C>T (TTN) MANE Select ENSP00000467141.1:p.Gln25929Ter
NM_001256850.1:c.72862C>T (TTN) NP_001243779.1:p.Gln24288Ter
NM_003319.4:c.50590C>T (TTN) NP_003310.4:p.Gln16864Ter
NM_133378.4:c.70081C>T (TTN) NP_596869.4:p.Gln23361Ter
NM_133432.3:c.50965C>T (TTN) NP_597676.3:p.Gln16989Ter
NM_133437.4:c.51166C>T (TTN) NP_597681.4:p.Gln17056Ter
NR_038271.1:n.447-2953G>A (TTN-AS1)
NR_038272.1:n.2044-14225G>A (TTN-AS1)
ENST00000342175.10:c.51166C>T (TTN) ENSP00000340554.6:p.Gln17056Ter
ENST00000342175.11:c.51166C>T (TTN) ENSP00000340554.6:p.Gln17056Ter
ENST00000342992.10:c.70081C>T (TTN) ENSP00000343764.6:p.Gln23361Ter
ENST00000342992.11:c.70081C>T (TTN) ENSP00000343764.6:p.Gln23361Ter
ENST00000359218.10:c.50965C>T (TTN) ENSP00000352154.5:p.Gln16989Ter
ENST00000359218.9:c.50965C>T (TTN) ENSP00000352154.5:p.Gln16989Ter
ENST00000460472.6:c.50590C>T (TTN) ENSP00000434586.1:p.Gln16864Ter
ENST00000591111.5:c.72862C>T (TTN) ENSP00000465570.1:p.Gln24288Ter
ENST00000615779.4:c.72862C>T (TTN) ENSP00000483597.1:p.Gln24288Ter
XM_011511729.1:c.76882C>T (TTN) XP_011510031.1:p.Gln25628Ter
XM_011511730.1:c.50776C>T (TTN) XP_011510032.1:p.Gln16926Ter
XM_011511731.1:c.50635C>T (TTN) XP_011510033.1:p.Gln16879Ter
XM_017004819.1:c.76678C>T (TTN) XP_016860308.1:p.Gln25560Ter
XM_017004820.1:c.72076C>T (TTN) XP_016860309.1:p.Gln24026Ter
XM_017004821.1:c.72073C>T (TTN) XP_016860310.1:p.Gln24025Ter
XM_017004822.1:c.69115C>T (TTN) XP_016860311.1:p.Gln23039Ter
XM_017004823.1:c.50731C>T (TTN) XP_016860312.1:p.Gln16911Ter
XM_024453094.1:c.72226C>T (TTN) XP_024308862.1:p.Gln24076Ter
XM_024453095.1:c.72223C>T (TTN) XP_024308863.1:p.Gln24075Ter
XM_024453096.1:c.71656C>T (TTN) XP_024308864.1:p.Gln23886Ter
XM_024453097.1:c.68998C>T (TTN) XP_024308865.1:p.Gln23000Ter
XM_024453098.1:c.68917C>T (TTN) XP_024308866.1:p.Gln22973Ter
XM_024453099.1:c.50680C>T (TTN) XP_024308867.1:p.Gln16894Ter
XM_024453100.1:c.40534C>T (TTN) XP_024308868.1:p.Gln13512Ter