Canonical Allele Identifier: CA349562662

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178562079G>C , CM000664.2:g.178562079G>C GRCh38
NC_000002.11:g.179426806G>C , CM000664.1:g.179426806G>C GRCh37
NC_000002.10:g.179135052G>C NCBI36
NG_011618.3:g.273724C>G , LRG_391:g.273724C>G
NG_051363.1:g.44253G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.76349C>G (TTN) ENSP00000343764.6:p.Thr25450Arg
ENST00000342175.11:c.57434C>G (TTN) ENSP00000340554.6:p.Thr19145Arg
ENST00000359218.10:c.57233C>G (TTN) ENSP00000352154.5:p.Thr19078Arg
ENST00000342175.10:c.57434C>G (TTN) ENSP00000340554.6:p.Thr19145Arg
ENST00000342992.10:c.76349C>G (TTN) ENSP00000343764.6:p.Thr25450Arg
ENST00000359218.9:c.57233C>G (TTN) ENSP00000352154.5:p.Thr19078Arg
ENST00000460472.6:c.56858C>G (TTN) ENSP00000434586.1:p.Thr18953Arg
ENST00000589042.5:c.84053C>G (TTN) MANE Select ENSP00000467141.1:p.Thr28018Arg
ENST00000591111.5:c.79130C>G (TTN) ENSP00000465570.1:p.Thr26377Arg
ENST00000615779.4:c.79130C>G (TTN) ENSP00000483597.1:p.Thr26377Arg
NM_001256850.1:c.79130C>G (TTN) NP_001243779.1:p.Thr26377Arg
NM_001267550.2:c.84053C>G (TTN) MANE Select NP_001254479.2:p.Thr28018Arg
NM_003319.4:c.56858C>G (TTN) NP_003310.4:p.Thr18953Arg
NM_133378.4:c.76349C>G (TTN) NP_596869.4:p.Thr25450Arg
NM_133432.3:c.57233C>G (TTN) NP_597676.3:p.Thr19078Arg
NM_133437.4:c.57434C>G (TTN) NP_597681.4:p.Thr19145Arg
NR_038271.1:n.447-9221G>C (TTN-AS1)
NR_038272.1:n.2043+19718G>C (TTN-AS1)
XM_011511729.1:c.83150C>G (TTN) XP_011510031.1:p.Thr27717Arg
XM_011511730.1:c.57044C>G (TTN) XP_011510032.1:p.Thr19015Arg
XM_011511731.1:c.56903C>G (TTN) XP_011510033.1:p.Thr18968Arg
XM_017004819.1:c.82946C>G (TTN) XP_016860308.1:p.Thr27649Arg
XM_017004820.1:c.78344C>G (TTN) XP_016860309.1:p.Thr26115Arg
XM_017004821.1:c.78341C>G (TTN) XP_016860310.1:p.Thr26114Arg
XM_017004822.1:c.75383C>G (TTN) XP_016860311.1:p.Thr25128Arg
XM_017004823.1:c.56999C>G (TTN) XP_016860312.1:p.Thr19000Arg
XM_024453094.1:c.78494C>G (TTN) XP_024308862.1:p.Thr26165Arg
XM_024453095.1:c.78491C>G (TTN) XP_024308863.1:p.Thr26164Arg
XM_024453096.1:c.77924C>G (TTN) XP_024308864.1:p.Thr25975Arg
XM_024453097.1:c.75266C>G (TTN) XP_024308865.1:p.Thr25089Arg
XM_024453098.1:c.75185C>G (TTN) XP_024308866.1:p.Thr25062Arg
XM_024453099.1:c.56948C>G (TTN) XP_024308867.1:p.Thr18983Arg
XM_024453100.1:c.46802C>G (TTN) XP_024308868.1:p.Thr15601Arg