Canonical Allele Identifier: CA261918
Community Standard Title: NM_001267550.2(TTN):c.102949C>T (p.Gln34317Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533666G>A , CM000664.2:g.178533666G>A GRCh38
NC_000002.11:g.179398393G>A , CM000664.1:g.179398393G>A GRCh37
NC_000002.10:g.179106639G>A NCBI36
NG_011618.3:g.302137C>T , LRG_391:g.302137C>T
NG_051363.1:g.15840G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.102949C>T (TTN) MANE Select NP_001254479.2:p.Gln34317Ter
ENST00000589042.5:c.102949C>T (TTN) MANE Select ENSP00000467141.1:p.Gln34317Ter
NM_001256850.1:c.98026C>T (TTN) NP_001243779.1:p.Gln32676Ter
NM_003319.4:c.75754C>T (TTN) NP_003310.4:p.Gln25252Ter
NM_133378.4:c.95245C>T (TTN) NP_596869.4:p.Gln31749Ter
NM_133432.3:c.76129C>T (TTN) NP_597676.3:p.Gln25377Ter
NM_133437.4:c.76330C>T (TTN) NP_597681.4:p.Gln25444Ter
NR_038271.1:n.446+10030G>A (TTN-AS1)
NR_038272.1:n.220-2066G>A (TTN-AS1)
ENST00000342175.10:c.76330C>T (TTN) ENSP00000340554.6:p.Gln25444Ter
ENST00000342175.11:c.76330C>T (TTN) ENSP00000340554.6:p.Gln25444Ter
ENST00000342992.10:c.95245C>T (TTN) ENSP00000343764.6:p.Gln31749Ter
ENST00000342992.11:c.95245C>T (TTN) ENSP00000343764.6:p.Gln31749Ter
ENST00000359218.10:c.76129C>T (TTN) ENSP00000352154.5:p.Gln25377Ter
ENST00000359218.9:c.76129C>T (TTN) ENSP00000352154.5:p.Gln25377Ter
ENST00000460472.6:c.75754C>T (TTN) ENSP00000434586.1:p.Gln25252Ter
ENST00000591111.5:c.98026C>T (TTN) ENSP00000465570.1:p.Gln32676Ter
ENST00000615779.4:c.98026C>T (TTN) ENSP00000483597.1:p.Gln32676Ter
XM_011511729.1:c.102046C>T (TTN) XP_011510031.1:p.Gln34016Ter
XM_011511730.1:c.75940C>T (TTN) XP_011510032.1:p.Gln25314Ter
XM_011511731.1:c.75799C>T (TTN) XP_011510033.1:p.Gln25267Ter
XM_017004819.1:c.101842C>T (TTN) XP_016860308.1:p.Gln33948Ter
XM_017004820.1:c.97240C>T (TTN) XP_016860309.1:p.Gln32414Ter
XM_017004821.1:c.97237C>T (TTN) XP_016860310.1:p.Gln32413Ter
XM_017004822.1:c.94279C>T (TTN) XP_016860311.1:p.Gln31427Ter
XM_017004823.1:c.75895C>T (TTN) XP_016860312.1:p.Gln25299Ter
XM_024453094.1:c.97390C>T (TTN) XP_024308862.1:p.Gln32464Ter
XM_024453095.1:c.97387C>T (TTN) XP_024308863.1:p.Gln32463Ter
XM_024453096.1:c.96820C>T (TTN) XP_024308864.1:p.Gln32274Ter
XM_024453097.1:c.94162C>T (TTN) XP_024308865.1:p.Gln31388Ter
XM_024453098.1:c.94081C>T (TTN) XP_024308866.1:p.Gln31361Ter
XM_024453099.1:c.75844C>T (TTN) XP_024308867.1:p.Gln25282Ter
XM_024453100.1:c.65698C>T (TTN) XP_024308868.1:p.Gln21900Ter