Canonical Allele Identifier: CA349621095

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178570464G>T , CM000664.2:g.178570464G>T GRCh38
NC_000002.11:g.179435191G>T , CM000664.1:g.179435191G>T GRCh37
NC_000002.10:g.179143437G>T NCBI36
NG_011618.3:g.265339C>A , LRG_391:g.265339C>A
NG_051363.1:g.52638G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.67964C>A (TTN) ENSP00000343764.6:p.Thr22655Lys
ENST00000342175.11:c.49049C>A (TTN) ENSP00000340554.6:p.Thr16350Lys
ENST00000359218.10:c.48848C>A (TTN) ENSP00000352154.5:p.Thr16283Lys
ENST00000342175.10:c.49049C>A (TTN) ENSP00000340554.6:p.Thr16350Lys
ENST00000342992.10:c.67964C>A (TTN) ENSP00000343764.6:p.Thr22655Lys
ENST00000359218.9:c.48848C>A (TTN) ENSP00000352154.5:p.Thr16283Lys
ENST00000460472.6:c.48473C>A (TTN) ENSP00000434586.1:p.Thr16158Lys
ENST00000589042.5:c.75668C>A (TTN) MANE Select ENSP00000467141.1:p.Thr25223Lys
ENST00000591111.5:c.70745C>A (TTN) ENSP00000465570.1:p.Thr23582Lys
ENST00000615779.4:c.70745C>A (TTN) ENSP00000483597.1:p.Thr23582Lys
NM_001256850.1:c.70745C>A (TTN) NP_001243779.1:p.Thr23582Lys
NM_001267550.2:c.75668C>A (TTN) MANE Select NP_001254479.2:p.Thr25223Lys
NM_003319.4:c.48473C>A (TTN) NP_003310.4:p.Thr16158Lys
NM_133378.4:c.67964C>A (TTN) NP_596869.4:p.Thr22655Lys
NM_133432.3:c.48848C>A (TTN) NP_597676.3:p.Thr16283Lys
NM_133437.4:c.49049C>A (TTN) NP_597681.4:p.Thr16350Lys
NR_038271.1:n.447-836G>T (TTN-AS1)
NR_038272.1:n.2044-12108G>T (TTN-AS1)
XM_011511729.1:c.74765C>A (TTN) XP_011510031.1:p.Thr24922Lys
XM_011511730.1:c.48659C>A (TTN) XP_011510032.1:p.Thr16220Lys
XM_011511731.1:c.48518C>A (TTN) XP_011510033.1:p.Thr16173Lys
XM_017004819.1:c.74561C>A (TTN) XP_016860308.1:p.Thr24854Lys
XM_017004820.1:c.69959C>A (TTN) XP_016860309.1:p.Thr23320Lys
XM_017004821.1:c.69956C>A (TTN) XP_016860310.1:p.Thr23319Lys
XM_017004822.1:c.66998C>A (TTN) XP_016860311.1:p.Thr22333Lys
XM_017004823.1:c.48614C>A (TTN) XP_016860312.1:p.Thr16205Lys
XM_024453094.1:c.70109C>A (TTN) XP_024308862.1:p.Thr23370Lys
XM_024453095.1:c.70106C>A (TTN) XP_024308863.1:p.Thr23369Lys
XM_024453096.1:c.69539C>A (TTN) XP_024308864.1:p.Thr23180Lys
XM_024453097.1:c.66881C>A (TTN) XP_024308865.1:p.Thr22294Lys
XM_024453098.1:c.66800C>A (TTN) XP_024308866.1:p.Thr22267Lys
XM_024453099.1:c.48563C>A (TTN) XP_024308867.1:p.Thr16188Lys
XM_024453100.1:c.38417C>A (TTN) XP_024308868.1:p.Thr12806Lys