Canonical Allele Identifier: CA349502751

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551663G>T , CM000664.2:g.178551663G>T GRCh38
NC_000002.11:g.179416390G>T , CM000664.1:g.179416390G>T GRCh37
NC_000002.10:g.179124636G>T NCBI36
NG_011618.3:g.284140C>A , LRG_391:g.284140C>A
NG_051363.1:g.33837G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83533C>A (TTN) ENSP00000343764.6:p.Pro27845Thr
ENST00000342175.11:c.64618C>A (TTN) ENSP00000340554.6:p.Pro21540Thr
ENST00000359218.10:c.64417C>A (TTN) ENSP00000352154.5:p.Pro21473Thr
ENST00000342175.10:c.64618C>A (TTN) ENSP00000340554.6:p.Pro21540Thr
ENST00000342992.10:c.83533C>A (TTN) ENSP00000343764.6:p.Pro27845Thr
ENST00000359218.9:c.64417C>A (TTN) ENSP00000352154.5:p.Pro21473Thr
ENST00000460472.6:c.64042C>A (TTN) ENSP00000434586.1:p.Pro21348Thr
ENST00000589042.5:c.91237C>A (TTN) MANE Select ENSP00000467141.1:p.Pro30413Thr
ENST00000591111.5:c.86314C>A (TTN) ENSP00000465570.1:p.Pro28772Thr
ENST00000615779.4:c.86314C>A (TTN) ENSP00000483597.1:p.Pro28772Thr
NM_001256850.1:c.86314C>A (TTN) NP_001243779.1:p.Pro28772Thr
NM_001267550.2:c.91237C>A (TTN) MANE Select NP_001254479.2:p.Pro30413Thr
NM_003319.4:c.64042C>A (TTN) NP_003310.4:p.Pro21348Thr
NM_133378.4:c.83533C>A (TTN) NP_596869.4:p.Pro27845Thr
NM_133432.3:c.64417C>A (TTN) NP_597676.3:p.Pro21473Thr
NM_133437.4:c.64618C>A (TTN) NP_597681.4:p.Pro21540Thr
NR_038271.1:n.447-19637G>T (TTN-AS1)
NR_038272.1:n.2043+9302G>T (TTN-AS1)
XM_011511729.1:c.90334C>A (TTN) XP_011510031.1:p.Pro30112Thr
XM_011511730.1:c.64228C>A (TTN) XP_011510032.1:p.Pro21410Thr
XM_011511731.1:c.64087C>A (TTN) XP_011510033.1:p.Pro21363Thr
XM_017004819.1:c.90130C>A (TTN) XP_016860308.1:p.Pro30044Thr
XM_017004820.1:c.85528C>A (TTN) XP_016860309.1:p.Pro28510Thr
XM_017004821.1:c.85525C>A (TTN) XP_016860310.1:p.Pro28509Thr
XM_017004822.1:c.82567C>A (TTN) XP_016860311.1:p.Pro27523Thr
XM_017004823.1:c.64183C>A (TTN) XP_016860312.1:p.Pro21395Thr
XM_024453094.1:c.85678C>A (TTN) XP_024308862.1:p.Pro28560Thr
XM_024453095.1:c.85675C>A (TTN) XP_024308863.1:p.Pro28559Thr
XM_024453096.1:c.85108C>A (TTN) XP_024308864.1:p.Pro28370Thr
XM_024453097.1:c.82450C>A (TTN) XP_024308865.1:p.Pro27484Thr
XM_024453098.1:c.82369C>A (TTN) XP_024308866.1:p.Pro27457Thr
XM_024453099.1:c.64132C>A (TTN) XP_024308867.1:p.Pro21378Thr
XM_024453100.1:c.53986C>A (TTN) XP_024308868.1:p.Pro17996Thr