Canonical Allele Identifier: CA349496141

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549830T>G , CM000664.2:g.178549830T>G GRCh38
NC_000002.11:g.179414557T>G , CM000664.1:g.179414557T>G GRCh37
NC_000002.10:g.179122803T>G NCBI36
NG_011618.3:g.285973A>C , LRG_391:g.285973A>C
NG_051363.1:g.32004T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84188A>C (TTN) ENSP00000343764.6:p.Asn28063Thr
ENST00000342175.11:c.65273A>C (TTN) ENSP00000340554.6:p.Asn21758Thr
ENST00000359218.10:c.65072A>C (TTN) ENSP00000352154.5:p.Asn21691Thr
ENST00000342175.10:c.65273A>C (TTN) ENSP00000340554.6:p.Asn21758Thr
ENST00000342992.10:c.84188A>C (TTN) ENSP00000343764.6:p.Asn28063Thr
ENST00000359218.9:c.65072A>C (TTN) ENSP00000352154.5:p.Asn21691Thr
ENST00000460472.6:c.64697A>C (TTN) ENSP00000434586.1:p.Asn21566Thr
ENST00000589042.5:c.91892A>C (TTN) MANE Select ENSP00000467141.1:p.Asn30631Thr
ENST00000591111.5:c.86969A>C (TTN) ENSP00000465570.1:p.Asn28990Thr
ENST00000615779.4:c.86969A>C (TTN) ENSP00000483597.1:p.Asn28990Thr
NM_001256850.1:c.86969A>C (TTN) NP_001243779.1:p.Asn28990Thr
NM_001267550.2:c.91892A>C (TTN) MANE Select NP_001254479.2:p.Asn30631Thr
NM_003319.4:c.64697A>C (TTN) NP_003310.4:p.Asn21566Thr
NM_133378.4:c.84188A>C (TTN) NP_596869.4:p.Asn28063Thr
NM_133432.3:c.65072A>C (TTN) NP_597676.3:p.Asn21691Thr
NM_133437.4:c.65273A>C (TTN) NP_597681.4:p.Asn21758Thr
NR_038271.1:n.447-21470T>G (TTN-AS1)
NR_038272.1:n.2043+7469T>G (TTN-AS1)
XM_011511729.1:c.90989A>C (TTN) XP_011510031.1:p.Asn30330Thr
XM_011511730.1:c.64883A>C (TTN) XP_011510032.1:p.Asn21628Thr
XM_011511731.1:c.64742A>C (TTN) XP_011510033.1:p.Asn21581Thr
XM_017004819.1:c.90785A>C (TTN) XP_016860308.1:p.Asn30262Thr
XM_017004820.1:c.86183A>C (TTN) XP_016860309.1:p.Asn28728Thr
XM_017004821.1:c.86180A>C (TTN) XP_016860310.1:p.Asn28727Thr
XM_017004822.1:c.83222A>C (TTN) XP_016860311.1:p.Asn27741Thr
XM_017004823.1:c.64838A>C (TTN) XP_016860312.1:p.Asn21613Thr
XM_024453094.1:c.86333A>C (TTN) XP_024308862.1:p.Asn28778Thr
XM_024453095.1:c.86330A>C (TTN) XP_024308863.1:p.Asn28777Thr
XM_024453096.1:c.85763A>C (TTN) XP_024308864.1:p.Asn28588Thr
XM_024453097.1:c.83105A>C (TTN) XP_024308865.1:p.Asn27702Thr
XM_024453098.1:c.83024A>C (TTN) XP_024308866.1:p.Asn27675Thr
XM_024453099.1:c.64787A>C (TTN) XP_024308867.1:p.Asn21596Thr
XM_024453100.1:c.54641A>C (TTN) XP_024308868.1:p.Asn18214Thr