Canonical Allele Identifier: CA349504192

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551850A>T , CM000664.2:g.178551850A>T GRCh38
NC_000002.11:g.179416577A>T , CM000664.1:g.179416577A>T GRCh37
NC_000002.10:g.179124823A>T NCBI36
NG_011618.3:g.283953T>A , LRG_391:g.283953T>A
NG_051363.1:g.34024A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83346T>A (TTN) ENSP00000343764.6:p.Tyr27782Ter
ENST00000342175.11:c.64431T>A (TTN) ENSP00000340554.6:p.Tyr21477Ter
ENST00000359218.10:c.64230T>A (TTN) ENSP00000352154.5:p.Tyr21410Ter
ENST00000342175.10:c.64431T>A (TTN) ENSP00000340554.6:p.Tyr21477Ter
ENST00000342992.10:c.83346T>A (TTN) ENSP00000343764.6:p.Tyr27782Ter
ENST00000359218.9:c.64230T>A (TTN) ENSP00000352154.5:p.Tyr21410Ter
ENST00000460472.6:c.63855T>A (TTN) ENSP00000434586.1:p.Tyr21285Ter
ENST00000589042.5:c.91050T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr30350Ter
ENST00000591111.5:c.86127T>A (TTN) ENSP00000465570.1:p.Tyr28709Ter
ENST00000615779.4:c.86127T>A (TTN) ENSP00000483597.1:p.Tyr28709Ter
NM_001256850.1:c.86127T>A (TTN) NP_001243779.1:p.Tyr28709Ter
NM_001267550.2:c.91050T>A (TTN) MANE Select NP_001254479.2:p.Tyr30350Ter
NM_003319.4:c.63855T>A (TTN) NP_003310.4:p.Tyr21285Ter
NM_133378.4:c.83346T>A (TTN) NP_596869.4:p.Tyr27782Ter
NM_133432.3:c.64230T>A (TTN) NP_597676.3:p.Tyr21410Ter
NM_133437.4:c.64431T>A (TTN) NP_597681.4:p.Tyr21477Ter
NR_038271.1:n.447-19450A>T (TTN-AS1)
NR_038272.1:n.2043+9489A>T (TTN-AS1)
XM_011511729.1:c.90147T>A (TTN) XP_011510031.1:p.Tyr30049Ter
XM_011511730.1:c.64041T>A (TTN) XP_011510032.1:p.Tyr21347Ter
XM_011511731.1:c.63900T>A (TTN) XP_011510033.1:p.Tyr21300Ter
XM_017004819.1:c.89943T>A (TTN) XP_016860308.1:p.Tyr29981Ter
XM_017004820.1:c.85341T>A (TTN) XP_016860309.1:p.Tyr28447Ter
XM_017004821.1:c.85338T>A (TTN) XP_016860310.1:p.Tyr28446Ter
XM_017004822.1:c.82380T>A (TTN) XP_016860311.1:p.Tyr27460Ter
XM_017004823.1:c.63996T>A (TTN) XP_016860312.1:p.Tyr21332Ter
XM_024453094.1:c.85491T>A (TTN) XP_024308862.1:p.Tyr28497Ter
XM_024453095.1:c.85488T>A (TTN) XP_024308863.1:p.Tyr28496Ter
XM_024453096.1:c.84921T>A (TTN) XP_024308864.1:p.Tyr28307Ter
XM_024453097.1:c.82263T>A (TTN) XP_024308865.1:p.Tyr27421Ter
XM_024453098.1:c.82182T>A (TTN) XP_024308866.1:p.Tyr27394Ter
XM_024453099.1:c.63945T>A (TTN) XP_024308867.1:p.Tyr21315Ter
XM_024453100.1:c.53799T>A (TTN) XP_024308868.1:p.Tyr17933Ter