Canonical Allele Identifier: CA349611322

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568826A>T , CM000664.2:g.178568826A>T GRCh38
NC_000002.11:g.179433553A>T , CM000664.1:g.179433553A>T GRCh37
NC_000002.10:g.179141799A>T NCBI36
NG_011618.3:g.266977T>A , LRG_391:g.266977T>A
NG_051363.1:g.51000A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.69602T>A (TTN) ENSP00000343764.6:p.Phe23201Tyr
ENST00000342175.11:c.50687T>A (TTN) ENSP00000340554.6:p.Phe16896Tyr
ENST00000359218.10:c.50486T>A (TTN) ENSP00000352154.5:p.Phe16829Tyr
ENST00000342175.10:c.50687T>A (TTN) ENSP00000340554.6:p.Phe16896Tyr
ENST00000342992.10:c.69602T>A (TTN) ENSP00000343764.6:p.Phe23201Tyr
ENST00000359218.9:c.50486T>A (TTN) ENSP00000352154.5:p.Phe16829Tyr
ENST00000460472.6:c.50111T>A (TTN) ENSP00000434586.1:p.Phe16704Tyr
ENST00000589042.5:c.77306T>A (TTN) MANE Select ENSP00000467141.1:p.Phe25769Tyr
ENST00000591111.5:c.72383T>A (TTN) ENSP00000465570.1:p.Phe24128Tyr
ENST00000615779.4:c.72383T>A (TTN) ENSP00000483597.1:p.Phe24128Tyr
NM_001256850.1:c.72383T>A (TTN) NP_001243779.1:p.Phe24128Tyr
NM_001267550.2:c.77306T>A (TTN) MANE Select NP_001254479.2:p.Phe25769Tyr
NM_003319.4:c.50111T>A (TTN) NP_003310.4:p.Phe16704Tyr
NM_133378.4:c.69602T>A (TTN) NP_596869.4:p.Phe23201Tyr
NM_133432.3:c.50486T>A (TTN) NP_597676.3:p.Phe16829Tyr
NM_133437.4:c.50687T>A (TTN) NP_597681.4:p.Phe16896Tyr
NR_038271.1:n.447-2474A>T (TTN-AS1)
NR_038272.1:n.2044-13746A>T (TTN-AS1)
XM_011511729.1:c.76403T>A (TTN) XP_011510031.1:p.Phe25468Tyr
XM_011511730.1:c.50297T>A (TTN) XP_011510032.1:p.Phe16766Tyr
XM_011511731.1:c.50156T>A (TTN) XP_011510033.1:p.Phe16719Tyr
XM_017004819.1:c.76199T>A (TTN) XP_016860308.1:p.Phe25400Tyr
XM_017004820.1:c.71597T>A (TTN) XP_016860309.1:p.Phe23866Tyr
XM_017004821.1:c.71594T>A (TTN) XP_016860310.1:p.Phe23865Tyr
XM_017004822.1:c.68636T>A (TTN) XP_016860311.1:p.Phe22879Tyr
XM_017004823.1:c.50252T>A (TTN) XP_016860312.1:p.Phe16751Tyr
XM_024453094.1:c.71747T>A (TTN) XP_024308862.1:p.Phe23916Tyr
XM_024453095.1:c.71744T>A (TTN) XP_024308863.1:p.Phe23915Tyr
XM_024453096.1:c.71177T>A (TTN) XP_024308864.1:p.Phe23726Tyr
XM_024453097.1:c.68519T>A (TTN) XP_024308865.1:p.Phe22840Tyr
XM_024453098.1:c.68438T>A (TTN) XP_024308866.1:p.Phe22813Tyr
XM_024453099.1:c.50201T>A (TTN) XP_024308867.1:p.Phe16734Tyr
XM_024453100.1:c.40055T>A (TTN) XP_024308868.1:p.Phe13352Tyr