Canonical Allele Identifier: CA349568882

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178607676G>T , CM000664.2:g.178607676G>T GRCh38
NC_000002.11:g.179472403G>T , CM000664.1:g.179472403G>T GRCh37
NC_000002.10:g.179180648G>T NCBI36
NG_011618.3:g.228127C>A , LRG_391:g.228127C>A
NG_051363.1:g.89850G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.45308C>A (TTN) ENSP00000343764.6:p.Ala15103Asp
ENST00000342175.11:c.26393C>A (TTN) ENSP00000340554.6:p.Ala8798Asp
ENST00000359218.10:c.26192C>A (TTN) ENSP00000352154.5:p.Ala8731Asp
ENST00000342175.10:c.26393C>A (TTN) ENSP00000340554.6:p.Ala8798Asp
ENST00000342992.10:c.45308C>A (TTN) ENSP00000343764.6:p.Ala15103Asp
ENST00000359218.9:c.26192C>A (TTN) ENSP00000352154.5:p.Ala8731Asp
ENST00000460472.6:c.25817C>A (TTN) ENSP00000434586.1:p.Ala8606Asp
ENST00000589042.5:c.53012C>A (TTN) MANE Select ENSP00000467141.1:p.Ala17671Asp
ENST00000591111.5:c.48089C>A (TTN) ENSP00000465570.1:p.Ala16030Asp
ENST00000615779.4:c.48089C>A (TTN) ENSP00000483597.1:p.Ala16030Asp
NM_001256850.1:c.48089C>A (TTN) NP_001243779.1:p.Ala16030Asp
NM_001267550.2:c.53012C>A (TTN) MANE Select NP_001254479.2:p.Ala17671Asp
NM_003319.4:c.25817C>A (TTN) NP_003310.4:p.Ala8606Asp
NM_133378.4:c.45308C>A (TTN) NP_596869.4:p.Ala15103Asp
NM_133432.3:c.26192C>A (TTN) NP_597676.3:p.Ala8731Asp
NM_133437.4:c.26393C>A (TTN) NP_597681.4:p.Ala8798Asp
NR_038271.1:n.683-491G>T (TTN-AS1)
XM_011511729.1:c.52109C>A (TTN) XP_011510031.1:p.Ala17370Asp
XM_011511730.1:c.26003C>A (TTN) XP_011510032.1:p.Ala8668Asp
XM_011511731.1:c.25862C>A (TTN) XP_011510033.1:p.Ala8621Asp
XM_017004819.1:c.51905C>A (TTN) XP_016860308.1:p.Ala17302Asp
XM_017004820.1:c.47303C>A (TTN) XP_016860309.1:p.Ala15768Asp
XM_017004821.1:c.47300C>A (TTN) XP_016860310.1:p.Ala15767Asp
XM_017004822.1:c.44342C>A (TTN) XP_016860311.1:p.Ala14781Asp
XM_017004823.1:c.25958C>A (TTN) XP_016860312.1:p.Ala8653Asp
XM_024453094.1:c.47453C>A (TTN) XP_024308862.1:p.Ala15818Asp
XM_024453095.1:c.47450C>A (TTN) XP_024308863.1:p.Ala15817Asp
XM_024453096.1:c.46883C>A (TTN) XP_024308864.1:p.Ala15628Asp
XM_024453097.1:c.44225C>A (TTN) XP_024308865.1:p.Ala14742Asp
XM_024453098.1:c.44144C>A (TTN) XP_024308866.1:p.Ala14715Asp
XM_024453099.1:c.25907C>A (TTN) XP_024308867.1:p.Ala8636Asp
XM_024453100.1:c.15761C>A (TTN) XP_024308868.1:p.Ala5254Asp