Canonical Allele Identifier: CA311241
Community Standard Title: NM_001267550.2(TTN):c.105821C>T (p.Thr35274Ile)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530794G>A , CM000664.2:g.178530794G>A GRCh38
NC_000002.11:g.179395521G>A , CM000664.1:g.179395521G>A GRCh37
NC_000002.10:g.179103767G>A NCBI36
NG_011618.3:g.305009C>T , LRG_391:g.305009C>T
NG_051363.1:g.12968G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.105821C>T (TTN) MANE Select NP_001254479.2:p.Thr35274Ile
ENST00000589042.5:c.105821C>T (TTN) MANE Select ENSP00000467141.1:p.Thr35274Ile
NM_001256850.1:c.100898C>T (TTN) NP_001243779.1:p.Thr33633Ile
NM_003319.4:c.78626C>T (TTN) NP_003310.4:p.Thr26209Ile
NM_133378.4:c.98117C>T (TTN) NP_596869.4:p.Thr32706Ile
NM_133432.3:c.79001C>T (TTN) NP_597676.3:p.Thr26334Ile
NM_133437.4:c.79202C>T (TTN) NP_597681.4:p.Thr26401Ile
NR_038271.1:n.446+7158G>A (TTN-AS1)
NR_038272.1:n.220-4938G>A (TTN-AS1)
ENST00000342175.10:c.79202C>T (TTN) ENSP00000340554.6:p.Thr26401Ile
ENST00000342175.11:c.79202C>T (TTN) ENSP00000340554.6:p.Thr26401Ile
ENST00000342992.10:c.98117C>T (TTN) ENSP00000343764.6:p.Thr32706Ile
ENST00000342992.11:c.98117C>T (TTN) ENSP00000343764.6:p.Thr32706Ile
ENST00000359218.10:c.79001C>T (TTN) ENSP00000352154.5:p.Thr26334Ile
ENST00000359218.9:c.79001C>T (TTN) ENSP00000352154.5:p.Thr26334Ile
ENST00000460472.6:c.78626C>T (TTN) ENSP00000434586.1:p.Thr26209Ile
ENST00000591111.5:c.100898C>T (TTN) ENSP00000465570.1:p.Thr33633Ile
ENST00000615779.4:c.100898C>T (TTN) ENSP00000483597.1:p.Thr33633Ile
XM_011511729.1:c.104918C>T (TTN) XP_011510031.1:p.Thr34973Ile
XM_011511730.1:c.78812C>T (TTN) XP_011510032.1:p.Thr26271Ile
XM_011511731.1:c.78671C>T (TTN) XP_011510033.1:p.Thr26224Ile
XM_017004819.1:c.104714C>T (TTN) XP_016860308.1:p.Thr34905Ile
XM_017004820.1:c.100112C>T (TTN) XP_016860309.1:p.Thr33371Ile
XM_017004821.1:c.100109C>T (TTN) XP_016860310.1:p.Thr33370Ile
XM_017004822.1:c.97151C>T (TTN) XP_016860311.1:p.Thr32384Ile
XM_017004823.1:c.78767C>T (TTN) XP_016860312.1:p.Thr26256Ile
XM_024453094.1:c.100262C>T (TTN) XP_024308862.1:p.Thr33421Ile
XM_024453095.1:c.100259C>T (TTN) XP_024308863.1:p.Thr33420Ile
XM_024453096.1:c.99692C>T (TTN) XP_024308864.1:p.Thr33231Ile
XM_024453097.1:c.97034C>T (TTN) XP_024308865.1:p.Thr32345Ile
XM_024453098.1:c.96953C>T (TTN) XP_024308866.1:p.Thr32318Ile
XM_024453099.1:c.78716C>T (TTN) XP_024308867.1:p.Thr26239Ile
XM_024453100.1:c.68570C>T (TTN) XP_024308868.1:p.Thr22857Ile