Canonical Allele Identifier: CA349411450

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532076A>C , CM000664.2:g.178532076A>C GRCh38
NC_000002.11:g.179396803A>C , CM000664.1:g.179396803A>C GRCh37
NC_000002.10:g.179105049A>C NCBI36
NG_011618.3:g.303727T>G , LRG_391:g.303727T>G
NG_051363.1:g.14250A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96835T>G (TTN) ENSP00000343764.6:p.Tyr32279Asp
ENST00000342175.11:c.77920T>G (TTN) ENSP00000340554.6:p.Tyr25974Asp
ENST00000359218.10:c.77719T>G (TTN) ENSP00000352154.5:p.Tyr25907Asp
ENST00000342175.10:c.77920T>G (TTN) ENSP00000340554.6:p.Tyr25974Asp
ENST00000342992.10:c.96835T>G (TTN) ENSP00000343764.6:p.Tyr32279Asp
ENST00000359218.9:c.77719T>G (TTN) ENSP00000352154.5:p.Tyr25907Asp
ENST00000460472.6:c.77344T>G (TTN) ENSP00000434586.1:p.Tyr25782Asp
ENST00000589042.5:c.104539T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr34847Asp
ENST00000591111.5:c.99616T>G (TTN) ENSP00000465570.1:p.Tyr33206Asp
ENST00000615779.4:c.99616T>G (TTN) ENSP00000483597.1:p.Tyr33206Asp
NM_001256850.1:c.99616T>G (TTN) NP_001243779.1:p.Tyr33206Asp
NM_001267550.2:c.104539T>G (TTN) MANE Select NP_001254479.2:p.Tyr34847Asp
NM_003319.4:c.77344T>G (TTN) NP_003310.4:p.Tyr25782Asp
NM_133378.4:c.96835T>G (TTN) NP_596869.4:p.Tyr32279Asp
NM_133432.3:c.77719T>G (TTN) NP_597676.3:p.Tyr25907Asp
NM_133437.4:c.77920T>G (TTN) NP_597681.4:p.Tyr25974Asp
NR_038271.1:n.446+8440A>C (TTN-AS1)
NR_038272.1:n.220-3656A>C (TTN-AS1)
XM_011511729.1:c.103636T>G (TTN) XP_011510031.1:p.Tyr34546Asp
XM_011511730.1:c.77530T>G (TTN) XP_011510032.1:p.Tyr25844Asp
XM_011511731.1:c.77389T>G (TTN) XP_011510033.1:p.Tyr25797Asp
XM_017004819.1:c.103432T>G (TTN) XP_016860308.1:p.Tyr34478Asp
XM_017004820.1:c.98830T>G (TTN) XP_016860309.1:p.Tyr32944Asp
XM_017004821.1:c.98827T>G (TTN) XP_016860310.1:p.Tyr32943Asp
XM_017004822.1:c.95869T>G (TTN) XP_016860311.1:p.Tyr31957Asp
XM_017004823.1:c.77485T>G (TTN) XP_016860312.1:p.Tyr25829Asp
XM_024453094.1:c.98980T>G (TTN) XP_024308862.1:p.Tyr32994Asp
XM_024453095.1:c.98977T>G (TTN) XP_024308863.1:p.Tyr32993Asp
XM_024453096.1:c.98410T>G (TTN) XP_024308864.1:p.Tyr32804Asp
XM_024453097.1:c.95752T>G (TTN) XP_024308865.1:p.Tyr31918Asp
XM_024453098.1:c.95671T>G (TTN) XP_024308866.1:p.Tyr31891Asp
XM_024453099.1:c.77434T>G (TTN) XP_024308867.1:p.Tyr25812Asp
XM_024453100.1:c.67288T>G (TTN) XP_024308868.1:p.Tyr22430Asp