Canonical Allele Identifier: CA349407182

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530582T>G , CM000664.2:g.178530582T>G GRCh38
NC_000002.11:g.179395309T>G , CM000664.1:g.179395309T>G GRCh37
NC_000002.10:g.179103555T>G NCBI36
NG_011618.3:g.305221A>C , LRG_391:g.305221A>C
NG_051363.1:g.12756T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98329A>C (TTN) ENSP00000343764.6:p.Lys32777Gln
ENST00000342175.11:c.79414A>C (TTN) ENSP00000340554.6:p.Lys26472Gln
ENST00000359218.10:c.79213A>C (TTN) ENSP00000352154.5:p.Lys26405Gln
ENST00000342175.10:c.79414A>C (TTN) ENSP00000340554.6:p.Lys26472Gln
ENST00000342992.10:c.98329A>C (TTN) ENSP00000343764.6:p.Lys32777Gln
ENST00000359218.9:c.79213A>C (TTN) ENSP00000352154.5:p.Lys26405Gln
ENST00000460472.6:c.78838A>C (TTN) ENSP00000434586.1:p.Lys26280Gln
ENST00000589042.5:c.106033A>C (TTN) MANE Select ENSP00000467141.1:p.Lys35345Gln
ENST00000591111.5:c.101110A>C (TTN) ENSP00000465570.1:p.Lys33704Gln
ENST00000615779.4:c.101110A>C (TTN) ENSP00000483597.1:p.Lys33704Gln
NM_001256850.1:c.101110A>C (TTN) NP_001243779.1:p.Lys33704Gln
NM_001267550.2:c.106033A>C (TTN) MANE Select NP_001254479.2:p.Lys35345Gln
NM_003319.4:c.78838A>C (TTN) NP_003310.4:p.Lys26280Gln
NM_133378.4:c.98329A>C (TTN) NP_596869.4:p.Lys32777Gln
NM_133432.3:c.79213A>C (TTN) NP_597676.3:p.Lys26405Gln
NM_133437.4:c.79414A>C (TTN) NP_597681.4:p.Lys26472Gln
NR_038271.1:n.446+6946T>G (TTN-AS1)
NR_038272.1:n.220-5150T>G (TTN-AS1)
XM_011511729.1:c.105130A>C (TTN) XP_011510031.1:p.Lys35044Gln
XM_011511730.1:c.79024A>C (TTN) XP_011510032.1:p.Lys26342Gln
XM_011511731.1:c.78883A>C (TTN) XP_011510033.1:p.Lys26295Gln
XM_017004819.1:c.104926A>C (TTN) XP_016860308.1:p.Lys34976Gln
XM_017004820.1:c.100324A>C (TTN) XP_016860309.1:p.Lys33442Gln
XM_017004821.1:c.100321A>C (TTN) XP_016860310.1:p.Lys33441Gln
XM_017004822.1:c.97363A>C (TTN) XP_016860311.1:p.Lys32455Gln
XM_017004823.1:c.78979A>C (TTN) XP_016860312.1:p.Lys26327Gln
XM_024453094.1:c.100474A>C (TTN) XP_024308862.1:p.Lys33492Gln
XM_024453095.1:c.100471A>C (TTN) XP_024308863.1:p.Lys33491Gln
XM_024453096.1:c.99904A>C (TTN) XP_024308864.1:p.Lys33302Gln
XM_024453097.1:c.97246A>C (TTN) XP_024308865.1:p.Lys32416Gln
XM_024453098.1:c.97165A>C (TTN) XP_024308866.1:p.Lys32389Gln
XM_024453099.1:c.78928A>C (TTN) XP_024308867.1:p.Lys26310Gln
XM_024453100.1:c.68782A>C (TTN) XP_024308868.1:p.Lys22928Gln