Canonical Allele Identifier: CA349578797
Community Standard Title: NM_001267550.2(TTN):c.51958C>T (p.Gln17320Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178609352G>A , CM000664.2:g.178609352G>A GRCh38
NC_000002.11:g.179474079G>A , CM000664.1:g.179474079G>A GRCh37
NC_000002.10:g.179182324G>A NCBI36
NG_011618.3:g.226451C>T , LRG_391:g.226451C>T
NG_051363.1:g.91526G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.51958C>T (TTN) MANE Select NP_001254479.2:p.Gln17320Ter
ENST00000589042.5:c.51958C>T (TTN) MANE Select ENSP00000467141.1:p.Gln17320Ter
NM_001256850.1:c.47035C>T (TTN) NP_001243779.1:p.Gln15679Ter
NM_003319.4:c.24763C>T (TTN) NP_003310.4:p.Gln8255Ter
NM_133378.4:c.44254C>T (TTN) NP_596869.4:p.Gln14752Ter
NM_133432.3:c.25138C>T (TTN) NP_597676.3:p.Gln8380Ter
NM_133437.4:c.25339C>T (TTN) NP_597681.4:p.Gln8447Ter
NR_038271.1:n.782+1086G>A (TTN-AS1)
ENST00000342175.10:c.25339C>T (TTN) ENSP00000340554.6:p.Gln8447Ter
ENST00000342175.11:c.25339C>T (TTN) ENSP00000340554.6:p.Gln8447Ter
ENST00000342992.10:c.44254C>T (TTN) ENSP00000343764.6:p.Gln14752Ter
ENST00000342992.11:c.44254C>T (TTN) ENSP00000343764.6:p.Gln14752Ter
ENST00000359218.10:c.25138C>T (TTN) ENSP00000352154.5:p.Gln8380Ter
ENST00000359218.9:c.25138C>T (TTN) ENSP00000352154.5:p.Gln8380Ter
ENST00000460472.6:c.24763C>T (TTN) ENSP00000434586.1:p.Gln8255Ter
ENST00000591111.5:c.47035C>T (TTN) ENSP00000465570.1:p.Gln15679Ter
ENST00000615779.4:c.47035C>T (TTN) ENSP00000483597.1:p.Gln15679Ter
XM_011511729.1:c.51055C>T (TTN) XP_011510031.1:p.Gln17019Ter
XM_011511730.1:c.24949C>T (TTN) XP_011510032.1:p.Gln8317Ter
XM_011511731.1:c.24808C>T (TTN) XP_011510033.1:p.Gln8270Ter
XM_017004819.1:c.50851C>T (TTN) XP_016860308.1:p.Gln16951Ter
XM_017004820.1:c.46249C>T (TTN) XP_016860309.1:p.Gln15417Ter
XM_017004821.1:c.46246C>T (TTN) XP_016860310.1:p.Gln15416Ter
XM_017004822.1:c.43288C>T (TTN) XP_016860311.1:p.Gln14430Ter
XM_017004823.1:c.24904C>T (TTN) XP_016860312.1:p.Gln8302Ter
XM_024453094.1:c.46399C>T (TTN) XP_024308862.1:p.Gln15467Ter
XM_024453095.1:c.46396C>T (TTN) XP_024308863.1:p.Gln15466Ter
XM_024453096.1:c.45829C>T (TTN) XP_024308864.1:p.Gln15277Ter
XM_024453097.1:c.43171C>T (TTN) XP_024308865.1:p.Gln14391Ter
XM_024453098.1:c.43090C>T (TTN) XP_024308866.1:p.Gln14364Ter
XM_024453099.1:c.24853C>T (TTN) XP_024308867.1:p.Gln8285Ter
XM_024453100.1:c.14707C>T (TTN) XP_024308868.1:p.Gln4903Ter