Canonical Allele Identifier: CA349541136

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178601537T>G , CM000664.2:g.178601537T>G GRCh38
NC_000002.11:g.179466264T>G , CM000664.1:g.179466264T>G GRCh37
NC_000002.10:g.179174509T>G NCBI36
NG_011618.3:g.234266A>C , LRG_391:g.234266A>C
NG_051363.1:g.83711T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.47756A>C (TTN) ENSP00000343764.6:p.Lys15919Thr
ENST00000342175.11:c.28841A>C (TTN) ENSP00000340554.6:p.Lys9614Thr
ENST00000359218.10:c.28640A>C (TTN) ENSP00000352154.5:p.Lys9547Thr
ENST00000342175.10:c.28841A>C (TTN) ENSP00000340554.6:p.Lys9614Thr
ENST00000342992.10:c.47756A>C (TTN) ENSP00000343764.6:p.Lys15919Thr
ENST00000359218.9:c.28640A>C (TTN) ENSP00000352154.5:p.Lys9547Thr
ENST00000460472.6:c.28265A>C (TTN) ENSP00000434586.1:p.Lys9422Thr
ENST00000589042.5:c.55460A>C (TTN) MANE Select ENSP00000467141.1:p.Lys18487Thr
ENST00000591111.5:c.50537A>C (TTN) ENSP00000465570.1:p.Lys16846Thr
ENST00000615779.4:c.50537A>C (TTN) ENSP00000483597.1:p.Lys16846Thr
NM_001256850.1:c.50537A>C (TTN) NP_001243779.1:p.Lys16846Thr
NM_001267550.2:c.55460A>C (TTN) MANE Select NP_001254479.2:p.Lys18487Thr
NM_003319.4:c.28265A>C (TTN) NP_003310.4:p.Lys9422Thr
NM_133378.4:c.47756A>C (TTN) NP_596869.4:p.Lys15919Thr
NM_133432.3:c.28640A>C (TTN) NP_597676.3:p.Lys9547Thr
NM_133437.4:c.28841A>C (TTN) NP_597681.4:p.Lys9614Thr
NR_038271.1:n.682+3856T>G (TTN-AS1)
NR_038272.1:n.3917+870T>G (TTN-AS1)
XM_011511729.1:c.54557A>C (TTN) XP_011510031.1:p.Lys18186Thr
XM_011511730.1:c.28451A>C (TTN) XP_011510032.1:p.Lys9484Thr
XM_011511731.1:c.28310A>C (TTN) XP_011510033.1:p.Lys9437Thr
XM_017004819.1:c.54353A>C (TTN) XP_016860308.1:p.Lys18118Thr
XM_017004820.1:c.49751A>C (TTN) XP_016860309.1:p.Lys16584Thr
XM_017004821.1:c.49748A>C (TTN) XP_016860310.1:p.Lys16583Thr
XM_017004822.1:c.46790A>C (TTN) XP_016860311.1:p.Lys15597Thr
XM_017004823.1:c.28406A>C (TTN) XP_016860312.1:p.Lys9469Thr
XM_024453094.1:c.49901A>C (TTN) XP_024308862.1:p.Lys16634Thr
XM_024453095.1:c.49898A>C (TTN) XP_024308863.1:p.Lys16633Thr
XM_024453096.1:c.49331A>C (TTN) XP_024308864.1:p.Lys16444Thr
XM_024453097.1:c.46673A>C (TTN) XP_024308865.1:p.Lys15558Thr
XM_024453098.1:c.46592A>C (TTN) XP_024308866.1:p.Lys15531Thr
XM_024453099.1:c.28355A>C (TTN) XP_024308867.1:p.Lys9452Thr
XM_024453100.1:c.18209A>C (TTN) XP_024308868.1:p.Lys6070Thr