Canonical Allele Identifier: CA349407178

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530581T>C , CM000664.2:g.178530581T>C GRCh38
NC_000002.11:g.179395308T>C , CM000664.1:g.179395308T>C GRCh37
NC_000002.10:g.179103554T>C NCBI36
NG_011618.3:g.305222A>G , LRG_391:g.305222A>G
NG_051363.1:g.12755T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98330A>G (TTN) ENSP00000343764.6:p.Lys32777Arg
ENST00000342175.11:c.79415A>G (TTN) ENSP00000340554.6:p.Lys26472Arg
ENST00000359218.10:c.79214A>G (TTN) ENSP00000352154.5:p.Lys26405Arg
ENST00000342175.10:c.79415A>G (TTN) ENSP00000340554.6:p.Lys26472Arg
ENST00000342992.10:c.98330A>G (TTN) ENSP00000343764.6:p.Lys32777Arg
ENST00000359218.9:c.79214A>G (TTN) ENSP00000352154.5:p.Lys26405Arg
ENST00000460472.6:c.78839A>G (TTN) ENSP00000434586.1:p.Lys26280Arg
ENST00000589042.5:c.106034A>G (TTN) MANE Select ENSP00000467141.1:p.Lys35345Arg
ENST00000591111.5:c.101111A>G (TTN) ENSP00000465570.1:p.Lys33704Arg
ENST00000615779.4:c.101111A>G (TTN) ENSP00000483597.1:p.Lys33704Arg
NM_001256850.1:c.101111A>G (TTN) NP_001243779.1:p.Lys33704Arg
NM_001267550.2:c.106034A>G (TTN) MANE Select NP_001254479.2:p.Lys35345Arg
NM_003319.4:c.78839A>G (TTN) NP_003310.4:p.Lys26280Arg
NM_133378.4:c.98330A>G (TTN) NP_596869.4:p.Lys32777Arg
NM_133432.3:c.79214A>G (TTN) NP_597676.3:p.Lys26405Arg
NM_133437.4:c.79415A>G (TTN) NP_597681.4:p.Lys26472Arg
NR_038271.1:n.446+6945T>C (TTN-AS1)
NR_038272.1:n.220-5151T>C (TTN-AS1)
XM_011511729.1:c.105131A>G (TTN) XP_011510031.1:p.Lys35044Arg
XM_011511730.1:c.79025A>G (TTN) XP_011510032.1:p.Lys26342Arg
XM_011511731.1:c.78884A>G (TTN) XP_011510033.1:p.Lys26295Arg
XM_017004819.1:c.104927A>G (TTN) XP_016860308.1:p.Lys34976Arg
XM_017004820.1:c.100325A>G (TTN) XP_016860309.1:p.Lys33442Arg
XM_017004821.1:c.100322A>G (TTN) XP_016860310.1:p.Lys33441Arg
XM_017004822.1:c.97364A>G (TTN) XP_016860311.1:p.Lys32455Arg
XM_017004823.1:c.78980A>G (TTN) XP_016860312.1:p.Lys26327Arg
XM_024453094.1:c.100475A>G (TTN) XP_024308862.1:p.Lys33492Arg
XM_024453095.1:c.100472A>G (TTN) XP_024308863.1:p.Lys33491Arg
XM_024453096.1:c.99905A>G (TTN) XP_024308864.1:p.Lys33302Arg
XM_024453097.1:c.97247A>G (TTN) XP_024308865.1:p.Lys32416Arg
XM_024453098.1:c.97166A>G (TTN) XP_024308866.1:p.Lys32389Arg
XM_024453099.1:c.78929A>G (TTN) XP_024308867.1:p.Lys26310Arg
XM_024453100.1:c.68783A>G (TTN) XP_024308868.1:p.Lys22928Arg