Canonical Allele Identifier: CA349484440
Gene: TTN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178658782A>C , CM000664.2:g.178658782A>C GRCh38
NC_000002.11:g.179523509A>C , CM000664.1:g.179523509A>C GRCh37
NC_000002.10:g.179231754A>C NCBI36
NG_011618.3:g.177021T>G , LRG_391:g.177021T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.31741+223T>G ENSP00000343764.6:n.31741+223T>G
ENST00000342175.11:c.13859-16465T>G ENSP00000340554.6:n.13859-16465T>G
ENST00000359218.10:c.13658-16465T>G ENSP00000352154.5:n.13658-16465T>G
ENST00000342175.10:c.13859-16465T>G ENSP00000340554.6:n.13859-16465T>G
ENST00000342992.10:c.31741+223T>G ENSP00000343764.6:n.31741+223T>G
ENST00000359218.9:c.13658-16465T>G ENSP00000352154.5:n.13658-16465T>G
ENST00000414766.5:c.2440+14851T>G ENSP00000401501.1:n.2440+14851T>G
ENST00000460472.6:c.13283-16465T>G ENSP00000434586.1:n.13283-16465T>G
ENST00000589042.5:c.37466T>G MANE Select ENSP00000467141.1:p.Leu12489Arg
ENST00000591111.5:c.34277T>G ENSP00000465570.1:p.Leu11426Arg
ENST00000615779.4:c.34522+223T>G ENSP00000483597.1:n.34522+223T>G
NM_001256850.1:c.34522+223T>G NP_001243779.1:n.34522+223T>G
NM_001267550.2:c.37466T>G MANE Select NP_001254479.2:p.Leu12489Arg
NM_003319.4:c.13283-16465T>G NP_003310.4:n.13283-16465T>G
NM_133378.4:c.31741+223T>G NP_596869.4:n.31741+223T>G
NM_133432.3:c.13658-16465T>G NP_597676.3:n.13658-16465T>G
NM_133437.4:c.13859-16465T>G NP_597681.4:n.13859-16465T>G
XM_011511729.1:c.36563T>G XP_011510031.1:p.Leu12188Arg
XM_011511730.1:c.13469-16465T>G XP_011510032.1:n.13469-16465T>G
XM_011511731.1:c.13328-16465T>G XP_011510033.1:n.13328-16465T>G
XM_017004819.1:c.36359T>G XP_016860308.1:p.Leu12120Arg
XM_017004820.1:c.31757T>G XP_016860309.1:p.Leu10586Arg
XM_017004821.1:c.31754T>G XP_016860310.1:p.Leu10585Arg
XM_017004822.1:c.31858+14851T>G XP_016860311.1:n.31858+14851T>G
XM_017004823.1:c.13424-16465T>G XP_016860312.1:n.13424-16465T>G
XM_024453094.1:c.33401T>G XP_024308862.1:p.Leu11134Arg
XM_024453095.1:c.33398T>G XP_024308863.1:p.Leu11133Arg
XM_024453096.1:c.32831T>G XP_024308864.1:p.Leu10944Arg
XM_024453097.1:c.31690+14851T>G XP_024308865.1:n.31690+14851T>G
XM_024453098.1:c.31609+14851T>G XP_024308866.1:n.31609+14851T>G
XM_024453099.1:c.13424-16465T>G XP_024308867.1:n.13424-16465T>G
XM_024453100.1:c.215T>G XP_024308868.1:p.Leu72Arg