Canonical Allele Identifier: CA349601371

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567398G>C , CM000664.2:g.178567398G>C GRCh38
NC_000002.11:g.179432125G>C , CM000664.1:g.179432125G>C GRCh37
NC_000002.10:g.179140371G>C NCBI36
NG_011618.3:g.268405C>G , LRG_391:g.268405C>G
NG_051363.1:g.49572G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.71030C>G (TTN) ENSP00000343764.6:p.Thr23677Arg
ENST00000342175.11:c.52115C>G (TTN) ENSP00000340554.6:p.Thr17372Arg
ENST00000359218.10:c.51914C>G (TTN) ENSP00000352154.5:p.Thr17305Arg
ENST00000342175.10:c.52115C>G (TTN) ENSP00000340554.6:p.Thr17372Arg
ENST00000342992.10:c.71030C>G (TTN) ENSP00000343764.6:p.Thr23677Arg
ENST00000359218.9:c.51914C>G (TTN) ENSP00000352154.5:p.Thr17305Arg
ENST00000460472.6:c.51539C>G (TTN) ENSP00000434586.1:p.Thr17180Arg
ENST00000589042.5:c.78734C>G (TTN) MANE Select ENSP00000467141.1:p.Thr26245Arg
ENST00000591111.5:c.73811C>G (TTN) ENSP00000465570.1:p.Thr24604Arg
ENST00000615779.4:c.73811C>G (TTN) ENSP00000483597.1:p.Thr24604Arg
NM_001256850.1:c.73811C>G (TTN) NP_001243779.1:p.Thr24604Arg
NM_001267550.2:c.78734C>G (TTN) MANE Select NP_001254479.2:p.Thr26245Arg
NM_003319.4:c.51539C>G (TTN) NP_003310.4:p.Thr17180Arg
NM_133378.4:c.71030C>G (TTN) NP_596869.4:p.Thr23677Arg
NM_133432.3:c.51914C>G (TTN) NP_597676.3:p.Thr17305Arg
NM_133437.4:c.52115C>G (TTN) NP_597681.4:p.Thr17372Arg
NR_038271.1:n.447-3902G>C (TTN-AS1)
NR_038272.1:n.2044-15174G>C (TTN-AS1)
XM_011511729.1:c.77831C>G (TTN) XP_011510031.1:p.Thr25944Arg
XM_011511730.1:c.51725C>G (TTN) XP_011510032.1:p.Thr17242Arg
XM_011511731.1:c.51584C>G (TTN) XP_011510033.1:p.Thr17195Arg
XM_017004819.1:c.77627C>G (TTN) XP_016860308.1:p.Thr25876Arg
XM_017004820.1:c.73025C>G (TTN) XP_016860309.1:p.Thr24342Arg
XM_017004821.1:c.73022C>G (TTN) XP_016860310.1:p.Thr24341Arg
XM_017004822.1:c.70064C>G (TTN) XP_016860311.1:p.Thr23355Arg
XM_017004823.1:c.51680C>G (TTN) XP_016860312.1:p.Thr17227Arg
XM_024453094.1:c.73175C>G (TTN) XP_024308862.1:p.Thr24392Arg
XM_024453095.1:c.73172C>G (TTN) XP_024308863.1:p.Thr24391Arg
XM_024453096.1:c.72605C>G (TTN) XP_024308864.1:p.Thr24202Arg
XM_024453097.1:c.69947C>G (TTN) XP_024308865.1:p.Thr23316Arg
XM_024453098.1:c.69866C>G (TTN) XP_024308866.1:p.Thr23289Arg
XM_024453099.1:c.51629C>G (TTN) XP_024308867.1:p.Thr17210Arg
XM_024453100.1:c.41483C>G (TTN) XP_024308868.1:p.Thr13828Arg