Canonical Allele Identifier: CA349405529

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530094T>A , CM000664.2:g.178530094T>A GRCh38
NC_000002.11:g.179394821T>A , CM000664.1:g.179394821T>A GRCh37
NC_000002.10:g.179103067T>A NCBI36
NG_011618.3:g.305709A>T , LRG_391:g.305709A>T
NG_051363.1:g.12268T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98693A>T (TTN) ENSP00000343764.6:p.Tyr32898Phe
ENST00000342175.11:c.79778A>T (TTN) ENSP00000340554.6:p.Tyr26593Phe
ENST00000359218.10:c.79577A>T (TTN) ENSP00000352154.5:p.Tyr26526Phe
ENST00000342175.10:c.79778A>T (TTN) ENSP00000340554.6:p.Tyr26593Phe
ENST00000342992.10:c.98693A>T (TTN) ENSP00000343764.6:p.Tyr32898Phe
ENST00000359218.9:c.79577A>T (TTN) ENSP00000352154.5:p.Tyr26526Phe
ENST00000460472.6:c.79202A>T (TTN) ENSP00000434586.1:p.Tyr26401Phe
ENST00000589042.5:c.106397A>T (TTN) MANE Select ENSP00000467141.1:p.Tyr35466Phe
ENST00000591111.5:c.101474A>T (TTN) ENSP00000465570.1:p.Tyr33825Phe
ENST00000615779.4:c.101474A>T (TTN) ENSP00000483597.1:p.Tyr33825Phe
NM_001256850.1:c.101474A>T (TTN) NP_001243779.1:p.Tyr33825Phe
NM_001267550.2:c.106397A>T (TTN) MANE Select NP_001254479.2:p.Tyr35466Phe
NM_003319.4:c.79202A>T (TTN) NP_003310.4:p.Tyr26401Phe
NM_133378.4:c.98693A>T (TTN) NP_596869.4:p.Tyr32898Phe
NM_133432.3:c.79577A>T (TTN) NP_597676.3:p.Tyr26526Phe
NM_133437.4:c.79778A>T (TTN) NP_597681.4:p.Tyr26593Phe
NR_038271.1:n.446+6458T>A (TTN-AS1)
NR_038272.1:n.220-5638T>A (TTN-AS1)
XM_011511729.1:c.105494A>T (TTN) XP_011510031.1:p.Tyr35165Phe
XM_011511730.1:c.79388A>T (TTN) XP_011510032.1:p.Tyr26463Phe
XM_011511731.1:c.79247A>T (TTN) XP_011510033.1:p.Tyr26416Phe
XM_017004819.1:c.105290A>T (TTN) XP_016860308.1:p.Tyr35097Phe
XM_017004820.1:c.100688A>T (TTN) XP_016860309.1:p.Tyr33563Phe
XM_017004821.1:c.100685A>T (TTN) XP_016860310.1:p.Tyr33562Phe
XM_017004822.1:c.97727A>T (TTN) XP_016860311.1:p.Tyr32576Phe
XM_017004823.1:c.79343A>T (TTN) XP_016860312.1:p.Tyr26448Phe
XM_024453094.1:c.100838A>T (TTN) XP_024308862.1:p.Tyr33613Phe
XM_024453095.1:c.100835A>T (TTN) XP_024308863.1:p.Tyr33612Phe
XM_024453096.1:c.100268A>T (TTN) XP_024308864.1:p.Tyr33423Phe
XM_024453097.1:c.97610A>T (TTN) XP_024308865.1:p.Tyr32537Phe
XM_024453098.1:c.97529A>T (TTN) XP_024308866.1:p.Tyr32510Phe
XM_024453099.1:c.79292A>T (TTN) XP_024308867.1:p.Tyr26431Phe
XM_024453100.1:c.69146A>T (TTN) XP_024308868.1:p.Tyr23049Phe