Canonical Allele Identifier: CA349406487

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530380G>T , CM000664.2:g.178530380G>T GRCh38
NC_000002.11:g.179395107G>T , CM000664.1:g.179395107G>T GRCh37
NC_000002.10:g.179103353G>T NCBI36
NG_011618.3:g.305423C>A , LRG_391:g.305423C>A
NG_051363.1:g.12554G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98531C>A (TTN) ENSP00000343764.6:p.Ala32844Asp
ENST00000342175.11:c.79616C>A (TTN) ENSP00000340554.6:p.Ala26539Asp
ENST00000359218.10:c.79415C>A (TTN) ENSP00000352154.5:p.Ala26472Asp
ENST00000342175.10:c.79616C>A (TTN) ENSP00000340554.6:p.Ala26539Asp
ENST00000342992.10:c.98531C>A (TTN) ENSP00000343764.6:p.Ala32844Asp
ENST00000359218.9:c.79415C>A (TTN) ENSP00000352154.5:p.Ala26472Asp
ENST00000460472.6:c.79040C>A (TTN) ENSP00000434586.1:p.Ala26347Asp
ENST00000589042.5:c.106235C>A (TTN) MANE Select ENSP00000467141.1:p.Ala35412Asp
ENST00000591111.5:c.101312C>A (TTN) ENSP00000465570.1:p.Ala33771Asp
ENST00000615779.4:c.101312C>A (TTN) ENSP00000483597.1:p.Ala33771Asp
NM_001256850.1:c.101312C>A (TTN) NP_001243779.1:p.Ala33771Asp
NM_001267550.2:c.106235C>A (TTN) MANE Select NP_001254479.2:p.Ala35412Asp
NM_003319.4:c.79040C>A (TTN) NP_003310.4:p.Ala26347Asp
NM_133378.4:c.98531C>A (TTN) NP_596869.4:p.Ala32844Asp
NM_133432.3:c.79415C>A (TTN) NP_597676.3:p.Ala26472Asp
NM_133437.4:c.79616C>A (TTN) NP_597681.4:p.Ala26539Asp
NR_038271.1:n.446+6744G>T (TTN-AS1)
NR_038272.1:n.220-5352G>T (TTN-AS1)
XM_011511729.1:c.105332C>A (TTN) XP_011510031.1:p.Ala35111Asp
XM_011511730.1:c.79226C>A (TTN) XP_011510032.1:p.Ala26409Asp
XM_011511731.1:c.79085C>A (TTN) XP_011510033.1:p.Ala26362Asp
XM_017004819.1:c.105128C>A (TTN) XP_016860308.1:p.Ala35043Asp
XM_017004820.1:c.100526C>A (TTN) XP_016860309.1:p.Ala33509Asp
XM_017004821.1:c.100523C>A (TTN) XP_016860310.1:p.Ala33508Asp
XM_017004822.1:c.97565C>A (TTN) XP_016860311.1:p.Ala32522Asp
XM_017004823.1:c.79181C>A (TTN) XP_016860312.1:p.Ala26394Asp
XM_024453094.1:c.100676C>A (TTN) XP_024308862.1:p.Ala33559Asp
XM_024453095.1:c.100673C>A (TTN) XP_024308863.1:p.Ala33558Asp
XM_024453096.1:c.100106C>A (TTN) XP_024308864.1:p.Ala33369Asp
XM_024453097.1:c.97448C>A (TTN) XP_024308865.1:p.Ala32483Asp
XM_024453098.1:c.97367C>A (TTN) XP_024308866.1:p.Ala32456Asp
XM_024453099.1:c.79130C>A (TTN) XP_024308867.1:p.Ala26377Asp
XM_024453100.1:c.68984C>A (TTN) XP_024308868.1:p.Ala22995Asp