Canonical Allele Identifier: CA349405535

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98693A>C (TTN) ENSP00000343764.6:p.Tyr32898Ser
ENST00000342175.11:c.79778A>C (TTN) ENSP00000340554.6:p.Tyr26593Ser
ENST00000359218.10:c.79577A>C (TTN) ENSP00000352154.5:p.Tyr26526Ser
ENST00000342175.10:c.79778A>C (TTN) ENSP00000340554.6:p.Tyr26593Ser
ENST00000342992.10:c.98693A>C (TTN) ENSP00000343764.6:p.Tyr32898Ser
ENST00000359218.9:c.79577A>C (TTN) ENSP00000352154.5:p.Tyr26526Ser
ENST00000460472.6:c.79202A>C (TTN) ENSP00000434586.1:p.Tyr26401Ser
ENST00000589042.5:c.106397A>C (TTN) MANE Select ENSP00000467141.1:p.Tyr35466Ser
ENST00000591111.5:c.101474A>C (TTN) ENSP00000465570.1:p.Tyr33825Ser
ENST00000615779.4:c.101474A>C (TTN) ENSP00000483597.1:p.Tyr33825Ser
NM_001256850.1:c.101474A>C (TTN) NP_001243779.1:p.Tyr33825Ser
NM_001267550.2:c.106397A>C (TTN) MANE Select NP_001254479.2:p.Tyr35466Ser
NM_003319.4:c.79202A>C (TTN) NP_003310.4:p.Tyr26401Ser
NM_133378.4:c.98693A>C (TTN) NP_596869.4:p.Tyr32898Ser
NM_133432.3:c.79577A>C (TTN) NP_597676.3:p.Tyr26526Ser
NM_133437.4:c.79778A>C (TTN) NP_597681.4:p.Tyr26593Ser
NR_038271.1:n.446+6458T>G (TTN-AS1)
NR_038272.1:n.220-5638T>G (TTN-AS1)
XM_011511729.1:c.105494A>C (TTN) XP_011510031.1:p.Tyr35165Ser
XM_011511730.1:c.79388A>C (TTN) XP_011510032.1:p.Tyr26463Ser
XM_011511731.1:c.79247A>C (TTN) XP_011510033.1:p.Tyr26416Ser
XM_017004819.1:c.105290A>C (TTN) XP_016860308.1:p.Tyr35097Ser
XM_017004820.1:c.100688A>C (TTN) XP_016860309.1:p.Tyr33563Ser
XM_017004821.1:c.100685A>C (TTN) XP_016860310.1:p.Tyr33562Ser
XM_017004822.1:c.97727A>C (TTN) XP_016860311.1:p.Tyr32576Ser
XM_017004823.1:c.79343A>C (TTN) XP_016860312.1:p.Tyr26448Ser
XM_024453094.1:c.100838A>C (TTN) XP_024308862.1:p.Tyr33613Ser
XM_024453095.1:c.100835A>C (TTN) XP_024308863.1:p.Tyr33612Ser
XM_024453096.1:c.100268A>C (TTN) XP_024308864.1:p.Tyr33423Ser
XM_024453097.1:c.97610A>C (TTN) XP_024308865.1:p.Tyr32537Ser
XM_024453098.1:c.97529A>C (TTN) XP_024308866.1:p.Tyr32510Ser
XM_024453099.1:c.79292A>C (TTN) XP_024308867.1:p.Tyr26431Ser
XM_024453100.1:c.69146A>C (TTN) XP_024308868.1:p.Tyr23049Ser