Canonical Allele Identifier: CA349407181

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98329A>G (TTN) ENSP00000343764.6:p.Lys32777Glu
ENST00000342175.11:c.79414A>G (TTN) ENSP00000340554.6:p.Lys26472Glu
ENST00000359218.10:c.79213A>G (TTN) ENSP00000352154.5:p.Lys26405Glu
ENST00000342175.10:c.79414A>G (TTN) ENSP00000340554.6:p.Lys26472Glu
ENST00000342992.10:c.98329A>G (TTN) ENSP00000343764.6:p.Lys32777Glu
ENST00000359218.9:c.79213A>G (TTN) ENSP00000352154.5:p.Lys26405Glu
ENST00000460472.6:c.78838A>G (TTN) ENSP00000434586.1:p.Lys26280Glu
ENST00000589042.5:c.106033A>G (TTN) MANE Select ENSP00000467141.1:p.Lys35345Glu
ENST00000591111.5:c.101110A>G (TTN) ENSP00000465570.1:p.Lys33704Glu
ENST00000615779.4:c.101110A>G (TTN) ENSP00000483597.1:p.Lys33704Glu
NM_001256850.1:c.101110A>G (TTN) NP_001243779.1:p.Lys33704Glu
NM_001267550.2:c.106033A>G (TTN) MANE Select NP_001254479.2:p.Lys35345Glu
NM_003319.4:c.78838A>G (TTN) NP_003310.4:p.Lys26280Glu
NM_133378.4:c.98329A>G (TTN) NP_596869.4:p.Lys32777Glu
NM_133432.3:c.79213A>G (TTN) NP_597676.3:p.Lys26405Glu
NM_133437.4:c.79414A>G (TTN) NP_597681.4:p.Lys26472Glu
NR_038271.1:n.446+6946T>C (TTN-AS1)
NR_038272.1:n.220-5150T>C (TTN-AS1)
XM_011511729.1:c.105130A>G (TTN) XP_011510031.1:p.Lys35044Glu
XM_011511730.1:c.79024A>G (TTN) XP_011510032.1:p.Lys26342Glu
XM_011511731.1:c.78883A>G (TTN) XP_011510033.1:p.Lys26295Glu
XM_017004819.1:c.104926A>G (TTN) XP_016860308.1:p.Lys34976Glu
XM_017004820.1:c.100324A>G (TTN) XP_016860309.1:p.Lys33442Glu
XM_017004821.1:c.100321A>G (TTN) XP_016860310.1:p.Lys33441Glu
XM_017004822.1:c.97363A>G (TTN) XP_016860311.1:p.Lys32455Glu
XM_017004823.1:c.78979A>G (TTN) XP_016860312.1:p.Lys26327Glu
XM_024453094.1:c.100474A>G (TTN) XP_024308862.1:p.Lys33492Glu
XM_024453095.1:c.100471A>G (TTN) XP_024308863.1:p.Lys33491Glu
XM_024453096.1:c.99904A>G (TTN) XP_024308864.1:p.Lys33302Glu
XM_024453097.1:c.97246A>G (TTN) XP_024308865.1:p.Lys32416Glu
XM_024453098.1:c.97165A>G (TTN) XP_024308866.1:p.Lys32389Glu
XM_024453099.1:c.78928A>G (TTN) XP_024308867.1:p.Lys26310Glu
XM_024453100.1:c.68782A>G (TTN) XP_024308868.1:p.Lys22928Glu