Canonical Allele Identifier: CA349614200
Community Standard Title: NM_001267550.2(TTN):c.76737T>A (p.Tyr25579Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569395A>T , CM000664.2:g.178569395A>T GRCh38
NC_000002.11:g.179434122A>T , CM000664.1:g.179434122A>T GRCh37
NC_000002.10:g.179142368A>T NCBI36
NG_011618.3:g.266408T>A , LRG_391:g.266408T>A
NG_051363.1:g.51569A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.76737T>A (TTN) MANE Select NP_001254479.2:p.Tyr25579Ter
ENST00000589042.5:c.76737T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr25579Ter
NM_001256850.1:c.71814T>A (TTN) NP_001243779.1:p.Tyr23938Ter
NM_003319.4:c.49542T>A (TTN) NP_003310.4:p.Tyr16514Ter
NM_133378.4:c.69033T>A (TTN) NP_596869.4:p.Tyr23011Ter
NM_133432.3:c.49917T>A (TTN) NP_597676.3:p.Tyr16639Ter
NM_133437.4:c.50118T>A (TTN) NP_597681.4:p.Tyr16706Ter
NR_038271.1:n.447-1905A>T (TTN-AS1)
NR_038272.1:n.2044-13177A>T (TTN-AS1)
ENST00000342175.10:c.50118T>A (TTN) ENSP00000340554.6:p.Tyr16706Ter
ENST00000342175.11:c.50118T>A (TTN) ENSP00000340554.6:p.Tyr16706Ter
ENST00000342992.10:c.69033T>A (TTN) ENSP00000343764.6:p.Tyr23011Ter
ENST00000342992.11:c.69033T>A (TTN) ENSP00000343764.6:p.Tyr23011Ter
ENST00000359218.10:c.49917T>A (TTN) ENSP00000352154.5:p.Tyr16639Ter
ENST00000359218.9:c.49917T>A (TTN) ENSP00000352154.5:p.Tyr16639Ter
ENST00000460472.6:c.49542T>A (TTN) ENSP00000434586.1:p.Tyr16514Ter
ENST00000591111.5:c.71814T>A (TTN) ENSP00000465570.1:p.Tyr23938Ter
ENST00000615779.4:c.71814T>A (TTN) ENSP00000483597.1:p.Tyr23938Ter
XM_011511729.1:c.75834T>A (TTN) XP_011510031.1:p.Tyr25278Ter
XM_011511730.1:c.49728T>A (TTN) XP_011510032.1:p.Tyr16576Ter
XM_011511731.1:c.49587T>A (TTN) XP_011510033.1:p.Tyr16529Ter
XM_017004819.1:c.75630T>A (TTN) XP_016860308.1:p.Tyr25210Ter
XM_017004820.1:c.71028T>A (TTN) XP_016860309.1:p.Tyr23676Ter
XM_017004821.1:c.71025T>A (TTN) XP_016860310.1:p.Tyr23675Ter
XM_017004822.1:c.68067T>A (TTN) XP_016860311.1:p.Tyr22689Ter
XM_017004823.1:c.49683T>A (TTN) XP_016860312.1:p.Tyr16561Ter
XM_024453094.1:c.71178T>A (TTN) XP_024308862.1:p.Tyr23726Ter
XM_024453095.1:c.71175T>A (TTN) XP_024308863.1:p.Tyr23725Ter
XM_024453096.1:c.70608T>A (TTN) XP_024308864.1:p.Tyr23536Ter
XM_024453097.1:c.67950T>A (TTN) XP_024308865.1:p.Tyr22650Ter
XM_024453098.1:c.67869T>A (TTN) XP_024308866.1:p.Tyr22623Ter
XM_024453099.1:c.49632T>A (TTN) XP_024308867.1:p.Tyr16544Ter
XM_024453100.1:c.39486T>A (TTN) XP_024308868.1:p.Tyr13162Ter