Canonical Allele Identifier: CA349479490

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178590937G>A , CM000664.2:g.178590937G>A GRCh38
NC_000002.11:g.179455664G>A , CM000664.1:g.179455664G>A GRCh37
NC_000002.10:g.179163910G>A NCBI36
NG_011618.3:g.244866C>T , LRG_391:g.244866C>T
NG_051363.1:g.73111G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.53084C>T (TTN) ENSP00000343764.6:p.Thr17695Ile
ENST00000342175.11:c.34169C>T (TTN) ENSP00000340554.6:p.Thr11390Ile
ENST00000359218.10:c.33968C>T (TTN) ENSP00000352154.5:p.Thr11323Ile
ENST00000342175.10:c.34169C>T (TTN) ENSP00000340554.6:p.Thr11390Ile
ENST00000342992.10:c.53084C>T (TTN) ENSP00000343764.6:p.Thr17695Ile
ENST00000359218.9:c.33968C>T (TTN) ENSP00000352154.5:p.Thr11323Ile
ENST00000460472.6:c.33593C>T (TTN) ENSP00000434586.1:p.Thr11198Ile
ENST00000589042.5:c.60788C>T (TTN) MANE Select ENSP00000467141.1:p.Thr20263Ile
ENST00000591111.5:c.55865C>T (TTN) ENSP00000465570.1:p.Thr18622Ile
ENST00000615779.4:c.55865C>T (TTN) ENSP00000483597.1:p.Thr18622Ile
NM_001256850.1:c.55865C>T (TTN) NP_001243779.1:p.Thr18622Ile
NM_001267550.2:c.60788C>T (TTN) MANE Select NP_001254479.2:p.Thr20263Ile
NM_003319.4:c.33593C>T (TTN) NP_003310.4:p.Thr11198Ile
NM_133378.4:c.53084C>T (TTN) NP_596869.4:p.Thr17695Ile
NM_133432.3:c.33968C>T (TTN) NP_597676.3:p.Thr11323Ile
NM_133437.4:c.34169C>T (TTN) NP_597681.4:p.Thr11390Ile
NR_038271.1:n.597-6659G>A (TTN-AS1)
NR_038272.1:n.3189-202G>A (TTN-AS1)
XM_011511729.1:c.59885C>T (TTN) XP_011510031.1:p.Thr19962Ile
XM_011511730.1:c.33779C>T (TTN) XP_011510032.1:p.Thr11260Ile
XM_011511731.1:c.33638C>T (TTN) XP_011510033.1:p.Thr11213Ile
XM_017004819.1:c.59681C>T (TTN) XP_016860308.1:p.Thr19894Ile
XM_017004820.1:c.55079C>T (TTN) XP_016860309.1:p.Thr18360Ile
XM_017004821.1:c.55076C>T (TTN) XP_016860310.1:p.Thr18359Ile
XM_017004822.1:c.52118C>T (TTN) XP_016860311.1:p.Thr17373Ile
XM_017004823.1:c.33734C>T (TTN) XP_016860312.1:p.Thr11245Ile
XM_024453094.1:c.55229C>T (TTN) XP_024308862.1:p.Thr18410Ile
XM_024453095.1:c.55226C>T (TTN) XP_024308863.1:p.Thr18409Ile
XM_024453096.1:c.54659C>T (TTN) XP_024308864.1:p.Thr18220Ile
XM_024453097.1:c.52001C>T (TTN) XP_024308865.1:p.Thr17334Ile
XM_024453098.1:c.51920C>T (TTN) XP_024308866.1:p.Thr17307Ile
XM_024453099.1:c.33683C>T (TTN) XP_024308867.1:p.Thr11228Ile
XM_024453100.1:c.23537C>T (TTN) XP_024308868.1:p.Thr7846Ile