Canonical Allele Identifier: CA349411446

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532074A>T , CM000664.2:g.178532074A>T GRCh38
NC_000002.11:g.179396801A>T , CM000664.1:g.179396801A>T GRCh37
NC_000002.10:g.179105047A>T NCBI36
NG_011618.3:g.303729T>A , LRG_391:g.303729T>A
NG_051363.1:g.14248A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96837T>A (TTN) ENSP00000343764.6:p.Tyr32279Ter
ENST00000342175.11:c.77922T>A (TTN) ENSP00000340554.6:p.Tyr25974Ter
ENST00000359218.10:c.77721T>A (TTN) ENSP00000352154.5:p.Tyr25907Ter
ENST00000342175.10:c.77922T>A (TTN) ENSP00000340554.6:p.Tyr25974Ter
ENST00000342992.10:c.96837T>A (TTN) ENSP00000343764.6:p.Tyr32279Ter
ENST00000359218.9:c.77721T>A (TTN) ENSP00000352154.5:p.Tyr25907Ter
ENST00000460472.6:c.77346T>A (TTN) ENSP00000434586.1:p.Tyr25782Ter
ENST00000589042.5:c.104541T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr34847Ter
ENST00000591111.5:c.99618T>A (TTN) ENSP00000465570.1:p.Tyr33206Ter
ENST00000615779.4:c.99618T>A (TTN) ENSP00000483597.1:p.Tyr33206Ter
NM_001256850.1:c.99618T>A (TTN) NP_001243779.1:p.Tyr33206Ter
NM_001267550.2:c.104541T>A (TTN) MANE Select NP_001254479.2:p.Tyr34847Ter
NM_003319.4:c.77346T>A (TTN) NP_003310.4:p.Tyr25782Ter
NM_133378.4:c.96837T>A (TTN) NP_596869.4:p.Tyr32279Ter
NM_133432.3:c.77721T>A (TTN) NP_597676.3:p.Tyr25907Ter
NM_133437.4:c.77922T>A (TTN) NP_597681.4:p.Tyr25974Ter
NR_038271.1:n.446+8438A>T (TTN-AS1)
NR_038272.1:n.220-3658A>T (TTN-AS1)
XM_011511729.1:c.103638T>A (TTN) XP_011510031.1:p.Tyr34546Ter
XM_011511730.1:c.77532T>A (TTN) XP_011510032.1:p.Tyr25844Ter
XM_011511731.1:c.77391T>A (TTN) XP_011510033.1:p.Tyr25797Ter
XM_017004819.1:c.103434T>A (TTN) XP_016860308.1:p.Tyr34478Ter
XM_017004820.1:c.98832T>A (TTN) XP_016860309.1:p.Tyr32944Ter
XM_017004821.1:c.98829T>A (TTN) XP_016860310.1:p.Tyr32943Ter
XM_017004822.1:c.95871T>A (TTN) XP_016860311.1:p.Tyr31957Ter
XM_017004823.1:c.77487T>A (TTN) XP_016860312.1:p.Tyr25829Ter
XM_024453094.1:c.98982T>A (TTN) XP_024308862.1:p.Tyr32994Ter
XM_024453095.1:c.98979T>A (TTN) XP_024308863.1:p.Tyr32993Ter
XM_024453096.1:c.98412T>A (TTN) XP_024308864.1:p.Tyr32804Ter
XM_024453097.1:c.95754T>A (TTN) XP_024308865.1:p.Tyr31918Ter
XM_024453098.1:c.95673T>A (TTN) XP_024308866.1:p.Tyr31891Ter
XM_024453099.1:c.77436T>A (TTN) XP_024308867.1:p.Tyr25812Ter
XM_024453100.1:c.67290T>A (TTN) XP_024308868.1:p.Tyr22430Ter