Canonical Allele Identifier: CA349483931
Gene: TTN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178658714G>T , CM000664.2:g.178658714G>T GRCh38
NC_000002.11:g.179523441G>T , CM000664.1:g.179523441G>T GRCh37
NC_000002.10:g.179231686G>T NCBI36
NG_011618.3:g.177089C>A , LRG_391:g.177089C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.31741+291C>A ENSP00000343764.6:n.31741+291C>A
ENST00000342175.11:c.13859-16397C>A ENSP00000340554.6:n.13859-16397C>A
ENST00000359218.10:c.13658-16397C>A ENSP00000352154.5:n.13658-16397C>A
ENST00000342175.10:c.13859-16397C>A ENSP00000340554.6:n.13859-16397C>A
ENST00000342992.10:c.31741+291C>A ENSP00000343764.6:n.31741+291C>A
ENST00000359218.9:c.13658-16397C>A ENSP00000352154.5:n.13658-16397C>A
ENST00000414766.5:c.2440+14919C>A ENSP00000401501.1:n.2440+14919C>A
ENST00000460472.6:c.13283-16397C>A ENSP00000434586.1:n.13283-16397C>A
ENST00000589042.5:c.37534C>A MANE Select ENSP00000467141.1:p.Pro12512Thr
ENST00000591111.5:c.34345C>A ENSP00000465570.1:p.Pro11449Thr
ENST00000615779.4:c.34522+291C>A ENSP00000483597.1:n.34522+291C>A
NM_001256850.1:c.34522+291C>A NP_001243779.1:n.34522+291C>A
NM_001267550.2:c.37534C>A MANE Select NP_001254479.2:p.Pro12512Thr
NM_003319.4:c.13283-16397C>A NP_003310.4:n.13283-16397C>A
NM_133378.4:c.31741+291C>A NP_596869.4:n.31741+291C>A
NM_133432.3:c.13658-16397C>A NP_597676.3:n.13658-16397C>A
NM_133437.4:c.13859-16397C>A NP_597681.4:n.13859-16397C>A
XM_011511729.1:c.36631C>A XP_011510031.1:p.Pro12211Thr
XM_011511730.1:c.13469-16397C>A XP_011510032.1:n.13469-16397C>A
XM_011511731.1:c.13328-16397C>A XP_011510033.1:n.13328-16397C>A
XM_017004819.1:c.36427C>A XP_016860308.1:p.Pro12143Thr
XM_017004820.1:c.31825C>A XP_016860309.1:p.Pro10609Thr
XM_017004821.1:c.31822C>A XP_016860310.1:p.Pro10608Thr
XM_017004822.1:c.31858+14919C>A XP_016860311.1:n.31858+14919C>A
XM_017004823.1:c.13424-16397C>A XP_016860312.1:n.13424-16397C>A
XM_024453094.1:c.33469C>A XP_024308862.1:p.Pro11157Thr
XM_024453095.1:c.33466C>A XP_024308863.1:p.Pro11156Thr
XM_024453096.1:c.32899C>A XP_024308864.1:p.Pro10967Thr
XM_024453097.1:c.31690+14919C>A XP_024308865.1:n.31690+14919C>A
XM_024453098.1:c.31609+14919C>A XP_024308866.1:n.31609+14919C>A
XM_024453099.1:c.13424-16397C>A XP_024308867.1:n.13424-16397C>A
XM_024453100.1:c.283C>A XP_024308868.1:p.Pro95Thr