Canonical Allele Identifier: CA349426880

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537063G>A , CM000664.2:g.178537063G>A GRCh38
NC_000002.11:g.179401790G>A , CM000664.1:g.179401790G>A GRCh37
NC_000002.10:g.179110036G>A NCBI36
NG_011618.3:g.298740C>T , LRG_391:g.298740C>T
NG_051363.1:g.19237G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.92342C>T (TTN) ENSP00000343764.6:p.Thr30781Ile
ENST00000342175.11:c.73427C>T (TTN) ENSP00000340554.6:p.Thr24476Ile
ENST00000359218.10:c.73226C>T (TTN) ENSP00000352154.5:p.Thr24409Ile
ENST00000342175.10:c.73427C>T (TTN) ENSP00000340554.6:p.Thr24476Ile
ENST00000342992.10:c.92342C>T (TTN) ENSP00000343764.6:p.Thr30781Ile
ENST00000359218.9:c.73226C>T (TTN) ENSP00000352154.5:p.Thr24409Ile
ENST00000460472.6:c.72851C>T (TTN) ENSP00000434586.1:p.Thr24284Ile
ENST00000589042.5:c.100046C>T (TTN) MANE Select ENSP00000467141.1:p.Thr33349Ile
ENST00000591111.5:c.95123C>T (TTN) ENSP00000465570.1:p.Thr31708Ile
ENST00000615779.4:c.95123C>T (TTN) ENSP00000483597.1:p.Thr31708Ile
NM_001256850.1:c.95123C>T (TTN) NP_001243779.1:p.Thr31708Ile
NM_001267550.2:c.100046C>T (TTN) MANE Select NP_001254479.2:p.Thr33349Ile
NM_003319.4:c.72851C>T (TTN) NP_003310.4:p.Thr24284Ile
NM_133378.4:c.92342C>T (TTN) NP_596869.4:p.Thr30781Ile
NM_133432.3:c.73226C>T (TTN) NP_597676.3:p.Thr24409Ile
NM_133437.4:c.73427C>T (TTN) NP_597681.4:p.Thr24476Ile
NR_038271.1:n.446+13427G>A (TTN-AS1)
NR_038272.1:n.317-298G>A (TTN-AS1)
XM_011511729.1:c.99143C>T (TTN) XP_011510031.1:p.Thr33048Ile
XM_011511730.1:c.73037C>T (TTN) XP_011510032.1:p.Thr24346Ile
XM_011511731.1:c.72896C>T (TTN) XP_011510033.1:p.Thr24299Ile
XM_017004819.1:c.98939C>T (TTN) XP_016860308.1:p.Thr32980Ile
XM_017004820.1:c.94337C>T (TTN) XP_016860309.1:p.Thr31446Ile
XM_017004821.1:c.94334C>T (TTN) XP_016860310.1:p.Thr31445Ile
XM_017004822.1:c.91376C>T (TTN) XP_016860311.1:p.Thr30459Ile
XM_017004823.1:c.72992C>T (TTN) XP_016860312.1:p.Thr24331Ile
XM_024453094.1:c.94487C>T (TTN) XP_024308862.1:p.Thr31496Ile
XM_024453095.1:c.94484C>T (TTN) XP_024308863.1:p.Thr31495Ile
XM_024453096.1:c.93917C>T (TTN) XP_024308864.1:p.Thr31306Ile
XM_024453097.1:c.91259C>T (TTN) XP_024308865.1:p.Thr30420Ile
XM_024453098.1:c.91178C>T (TTN) XP_024308866.1:p.Thr30393Ile
XM_024453099.1:c.72941C>T (TTN) XP_024308867.1:p.Thr24314Ile
XM_024453100.1:c.62795C>T (TTN) XP_024308868.1:p.Thr20932Ile