Canonical Allele Identifier: CA349521385
Community Standard Title: NM_001267550.2(TTN):c.57345T>A (p.Tyr19115Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178597737A>T , CM000664.2:g.178597737A>T GRCh38
NC_000002.11:g.179462464A>T , CM000664.1:g.179462464A>T GRCh37
NC_000002.10:g.179170709A>T NCBI36
NG_011618.3:g.238066T>A , LRG_391:g.238066T>A
NG_051363.1:g.79911A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.57345T>A (TTN) MANE Select NP_001254479.2:p.Tyr19115Ter
ENST00000589042.5:c.57345T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr19115Ter
NM_001256850.1:c.52422T>A (TTN) NP_001243779.1:p.Tyr17474Ter
NM_003319.4:c.30150T>A (TTN) NP_003310.4:p.Tyr10050Ter
NM_133378.4:c.49641T>A (TTN) NP_596869.4:p.Tyr16547Ter
NM_133432.3:c.30525T>A (TTN) NP_597676.3:p.Tyr10175Ter
NM_133437.4:c.30726T>A (TTN) NP_597681.4:p.Tyr10242Ter
NR_038271.1:n.682+56A>T (TTN-AS1)
NR_038272.1:n.3450+56A>T (TTN-AS1)
ENST00000342175.10:c.30726T>A (TTN) ENSP00000340554.6:p.Tyr10242Ter
ENST00000342175.11:c.30726T>A (TTN) ENSP00000340554.6:p.Tyr10242Ter
ENST00000342992.10:c.49641T>A (TTN) ENSP00000343764.6:p.Tyr16547Ter
ENST00000342992.11:c.49641T>A (TTN) ENSP00000343764.6:p.Tyr16547Ter
ENST00000359218.10:c.30525T>A (TTN) ENSP00000352154.5:p.Tyr10175Ter
ENST00000359218.9:c.30525T>A (TTN) ENSP00000352154.5:p.Tyr10175Ter
ENST00000460472.6:c.30150T>A (TTN) ENSP00000434586.1:p.Tyr10050Ter
ENST00000591111.5:c.52422T>A (TTN) ENSP00000465570.1:p.Tyr17474Ter
ENST00000615779.4:c.52422T>A (TTN) ENSP00000483597.1:p.Tyr17474Ter
XM_011511729.1:c.56442T>A (TTN) XP_011510031.1:p.Tyr18814Ter
XM_011511730.1:c.30336T>A (TTN) XP_011510032.1:p.Tyr10112Ter
XM_011511731.1:c.30195T>A (TTN) XP_011510033.1:p.Tyr10065Ter
XM_017004819.1:c.56238T>A (TTN) XP_016860308.1:p.Tyr18746Ter
XM_017004820.1:c.51636T>A (TTN) XP_016860309.1:p.Tyr17212Ter
XM_017004821.1:c.51633T>A (TTN) XP_016860310.1:p.Tyr17211Ter
XM_017004822.1:c.48675T>A (TTN) XP_016860311.1:p.Tyr16225Ter
XM_017004823.1:c.30291T>A (TTN) XP_016860312.1:p.Tyr10097Ter
XM_024453094.1:c.51786T>A (TTN) XP_024308862.1:p.Tyr17262Ter
XM_024453095.1:c.51783T>A (TTN) XP_024308863.1:p.Tyr17261Ter
XM_024453096.1:c.51216T>A (TTN) XP_024308864.1:p.Tyr17072Ter
XM_024453097.1:c.48558T>A (TTN) XP_024308865.1:p.Tyr16186Ter
XM_024453098.1:c.48477T>A (TTN) XP_024308866.1:p.Tyr16159Ter
XM_024453099.1:c.30240T>A (TTN) XP_024308867.1:p.Tyr10080Ter
XM_024453100.1:c.20094T>A (TTN) XP_024308868.1:p.Tyr6698Ter