Canonical Allele Identifier: CA1987851
Community Standard Title: NM_001267550.2(TTN):c.89936C>T (p.Thr29979Ile)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552964G>A , CM000664.2:g.178552964G>A GRCh38
NC_000002.11:g.179417691G>A , CM000664.1:g.179417691G>A GRCh37
NC_000002.10:g.179125937G>A NCBI36
NG_011618.3:g.282839C>T , LRG_391:g.282839C>T
NG_051363.1:g.35138G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.89936C>T (TTN) MANE Select NP_001254479.2:p.Thr29979Ile
ENST00000589042.5:c.89936C>T (TTN) MANE Select ENSP00000467141.1:p.Thr29979Ile
NM_001256850.1:c.85013C>T (TTN) NP_001243779.1:p.Thr28338Ile
NM_003319.4:c.62741C>T (TTN) NP_003310.4:p.Thr20914Ile
NM_133378.4:c.82232C>T (TTN) NP_596869.4:p.Thr27411Ile
NM_133432.3:c.63116C>T (TTN) NP_597676.3:p.Thr21039Ile
NM_133437.4:c.63317C>T (TTN) NP_597681.4:p.Thr21106Ile
NR_038271.1:n.447-18336G>A (TTN-AS1)
NR_038272.1:n.2043+10603G>A (TTN-AS1)
ENST00000342175.10:c.63317C>T (TTN) ENSP00000340554.6:p.Thr21106Ile
ENST00000342175.11:c.63317C>T (TTN) ENSP00000340554.6:p.Thr21106Ile
ENST00000342992.10:c.82232C>T (TTN) ENSP00000343764.6:p.Thr27411Ile
ENST00000342992.11:c.82232C>T (TTN) ENSP00000343764.6:p.Thr27411Ile
ENST00000359218.10:c.63116C>T (TTN) ENSP00000352154.5:p.Thr21039Ile
ENST00000359218.9:c.63116C>T (TTN) ENSP00000352154.5:p.Thr21039Ile
ENST00000460472.6:c.62741C>T (TTN) ENSP00000434586.1:p.Thr20914Ile
ENST00000591111.5:c.85013C>T (TTN) ENSP00000465570.1:p.Thr28338Ile
ENST00000615779.4:c.85013C>T (TTN) ENSP00000483597.1:p.Thr28338Ile
XM_011511729.1:c.89033C>T (TTN) XP_011510031.1:p.Thr29678Ile
XM_011511730.1:c.62927C>T (TTN) XP_011510032.1:p.Thr20976Ile
XM_011511731.1:c.62786C>T (TTN) XP_011510033.1:p.Thr20929Ile
XM_017004819.1:c.88829C>T (TTN) XP_016860308.1:p.Thr29610Ile
XM_017004820.1:c.84227C>T (TTN) XP_016860309.1:p.Thr28076Ile
XM_017004821.1:c.84224C>T (TTN) XP_016860310.1:p.Thr28075Ile
XM_017004822.1:c.81266C>T (TTN) XP_016860311.1:p.Thr27089Ile
XM_017004823.1:c.62882C>T (TTN) XP_016860312.1:p.Thr20961Ile
XM_024453094.1:c.84377C>T (TTN) XP_024308862.1:p.Thr28126Ile
XM_024453095.1:c.84374C>T (TTN) XP_024308863.1:p.Thr28125Ile
XM_024453096.1:c.83807C>T (TTN) XP_024308864.1:p.Thr27936Ile
XM_024453097.1:c.81149C>T (TTN) XP_024308865.1:p.Thr27050Ile
XM_024453098.1:c.81068C>T (TTN) XP_024308866.1:p.Thr27023Ile
XM_024453099.1:c.62831C>T (TTN) XP_024308867.1:p.Thr20944Ile
XM_024453100.1:c.52685C>T (TTN) XP_024308868.1:p.Thr17562Ile