Canonical Allele Identifier: CA349398386

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527081A>T , CM000664.2:g.178527081A>T GRCh38
NC_000002.11:g.179391808A>T , CM000664.1:g.179391808A>T GRCh37
NC_000002.10:g.179100054A>T NCBI36
NG_011618.3:g.308722T>A , LRG_391:g.308722T>A
NG_051363.1:g.9255A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100203T>A (TTN) ENSP00000343764.6:p.Tyr33401Ter
ENST00000342175.11:c.81288T>A (TTN) ENSP00000340554.6:p.Tyr27096Ter
ENST00000359218.10:c.81087T>A (TTN) ENSP00000352154.5:p.Tyr27029Ter
ENST00000342175.10:c.81288T>A (TTN) ENSP00000340554.6:p.Tyr27096Ter
ENST00000342992.10:c.100203T>A (TTN) ENSP00000343764.6:p.Tyr33401Ter
ENST00000359218.9:c.81087T>A (TTN) ENSP00000352154.5:p.Tyr27029Ter
ENST00000460472.6:c.80712T>A (TTN) ENSP00000434586.1:p.Tyr26904Ter
ENST00000589042.5:c.107907T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr35969Ter
ENST00000591111.5:c.102984T>A (TTN) ENSP00000465570.1:p.Tyr34328Ter
ENST00000615779.4:c.102984T>A (TTN) ENSP00000483597.1:p.Tyr34328Ter
NM_001256850.1:c.102984T>A (TTN) NP_001243779.1:p.Tyr34328Ter
NM_001267550.2:c.107907T>A (TTN) MANE Select NP_001254479.2:p.Tyr35969Ter
NM_003319.4:c.80712T>A (TTN) NP_003310.4:p.Tyr26904Ter
NM_133378.4:c.100203T>A (TTN) NP_596869.4:p.Tyr33401Ter
NM_133432.3:c.81087T>A (TTN) NP_597676.3:p.Tyr27029Ter
NM_133437.4:c.81288T>A (TTN) NP_597681.4:p.Tyr27096Ter
NR_038271.1:n.446+3445A>T (TTN-AS1)
NR_038272.1:n.219+3445A>T (TTN-AS1)
XM_011511729.1:c.107004T>A (TTN) XP_011510031.1:p.Tyr35668Ter
XM_011511730.1:c.80898T>A (TTN) XP_011510032.1:p.Tyr26966Ter
XM_011511731.1:c.80757T>A (TTN) XP_011510033.1:p.Tyr26919Ter
XM_017004819.1:c.106800T>A (TTN) XP_016860308.1:p.Tyr35600Ter
XM_017004820.1:c.102198T>A (TTN) XP_016860309.1:p.Tyr34066Ter
XM_017004821.1:c.102195T>A (TTN) XP_016860310.1:p.Tyr34065Ter
XM_017004822.1:c.99237T>A (TTN) XP_016860311.1:p.Tyr33079Ter
XM_017004823.1:c.80853T>A (TTN) XP_016860312.1:p.Tyr26951Ter
XM_024453094.1:c.102348T>A (TTN) XP_024308862.1:p.Tyr34116Ter
XM_024453095.1:c.102345T>A (TTN) XP_024308863.1:p.Tyr34115Ter
XM_024453096.1:c.101778T>A (TTN) XP_024308864.1:p.Tyr33926Ter
XM_024453097.1:c.99120T>A (TTN) XP_024308865.1:p.Tyr33040Ter
XM_024453098.1:c.99039T>A (TTN) XP_024308866.1:p.Tyr33013Ter
XM_024453099.1:c.80802T>A (TTN) XP_024308867.1:p.Tyr26934Ter
XM_024453100.1:c.70656T>A (TTN) XP_024308868.1:p.Tyr23552Ter