Canonical Allele Identifier: CA349407179

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98330A>C (TTN) ENSP00000343764.6:p.Lys32777Thr
ENST00000342175.11:c.79415A>C (TTN) ENSP00000340554.6:p.Lys26472Thr
ENST00000359218.10:c.79214A>C (TTN) ENSP00000352154.5:p.Lys26405Thr
ENST00000342175.10:c.79415A>C (TTN) ENSP00000340554.6:p.Lys26472Thr
ENST00000342992.10:c.98330A>C (TTN) ENSP00000343764.6:p.Lys32777Thr
ENST00000359218.9:c.79214A>C (TTN) ENSP00000352154.5:p.Lys26405Thr
ENST00000460472.6:c.78839A>C (TTN) ENSP00000434586.1:p.Lys26280Thr
ENST00000589042.5:c.106034A>C (TTN) MANE Select ENSP00000467141.1:p.Lys35345Thr
ENST00000591111.5:c.101111A>C (TTN) ENSP00000465570.1:p.Lys33704Thr
ENST00000615779.4:c.101111A>C (TTN) ENSP00000483597.1:p.Lys33704Thr
NM_001256850.1:c.101111A>C (TTN) NP_001243779.1:p.Lys33704Thr
NM_001267550.2:c.106034A>C (TTN) MANE Select NP_001254479.2:p.Lys35345Thr
NM_003319.4:c.78839A>C (TTN) NP_003310.4:p.Lys26280Thr
NM_133378.4:c.98330A>C (TTN) NP_596869.4:p.Lys32777Thr
NM_133432.3:c.79214A>C (TTN) NP_597676.3:p.Lys26405Thr
NM_133437.4:c.79415A>C (TTN) NP_597681.4:p.Lys26472Thr
NR_038271.1:n.446+6945T>G (TTN-AS1)
NR_038272.1:n.220-5151T>G (TTN-AS1)
XM_011511729.1:c.105131A>C (TTN) XP_011510031.1:p.Lys35044Thr
XM_011511730.1:c.79025A>C (TTN) XP_011510032.1:p.Lys26342Thr
XM_011511731.1:c.78884A>C (TTN) XP_011510033.1:p.Lys26295Thr
XM_017004819.1:c.104927A>C (TTN) XP_016860308.1:p.Lys34976Thr
XM_017004820.1:c.100325A>C (TTN) XP_016860309.1:p.Lys33442Thr
XM_017004821.1:c.100322A>C (TTN) XP_016860310.1:p.Lys33441Thr
XM_017004822.1:c.97364A>C (TTN) XP_016860311.1:p.Lys32455Thr
XM_017004823.1:c.78980A>C (TTN) XP_016860312.1:p.Lys26327Thr
XM_024453094.1:c.100475A>C (TTN) XP_024308862.1:p.Lys33492Thr
XM_024453095.1:c.100472A>C (TTN) XP_024308863.1:p.Lys33491Thr
XM_024453096.1:c.99905A>C (TTN) XP_024308864.1:p.Lys33302Thr
XM_024453097.1:c.97247A>C (TTN) XP_024308865.1:p.Lys32416Thr
XM_024453098.1:c.97166A>C (TTN) XP_024308866.1:p.Lys32389Thr
XM_024453099.1:c.78929A>C (TTN) XP_024308867.1:p.Lys26310Thr
XM_024453100.1:c.68783A>C (TTN) XP_024308868.1:p.Lys22928Thr