Canonical Allele Identifier: CA349621846

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618680T>A , CM000664.2:g.178618680T>A GRCh38
NC_000002.11:g.179483407T>A , CM000664.1:g.179483407T>A GRCh37
NC_000002.10:g.179191652T>A NCBI36
NG_011618.3:g.217123A>T , LRG_391:g.217123A>T
NG_051363.1:g.100854T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39166A>T (TTN) ENSP00000343764.6:p.Ile13056Phe
ENST00000342175.11:c.20251A>T (TTN) ENSP00000340554.6:p.Ile6751Phe
ENST00000359218.10:c.20050A>T (TTN) ENSP00000352154.5:p.Ile6684Phe
ENST00000342175.10:c.20251A>T (TTN) ENSP00000340554.6:p.Ile6751Phe
ENST00000342992.10:c.39166A>T (TTN) ENSP00000343764.6:p.Ile13056Phe
ENST00000359218.9:c.20050A>T (TTN) ENSP00000352154.5:p.Ile6684Phe
ENST00000460472.6:c.19675A>T (TTN) ENSP00000434586.1:p.Ile6559Phe
ENST00000589042.5:c.46870A>T (TTN) MANE Select ENSP00000467141.1:p.Ile15624Phe
ENST00000591111.5:c.41947A>T (TTN) ENSP00000465570.1:p.Ile13983Phe
ENST00000615779.4:c.41947A>T (TTN) ENSP00000483597.1:p.Ile13983Phe
NM_001256850.1:c.41947A>T (TTN) NP_001243779.1:p.Ile13983Phe
NM_001267550.2:c.46870A>T (TTN) MANE Select NP_001254479.2:p.Ile15624Phe
NM_003319.4:c.19675A>T (TTN) NP_003310.4:p.Ile6559Phe
NM_133378.4:c.39166A>T (TTN) NP_596869.4:p.Ile13056Phe
NM_133432.3:c.20050A>T (TTN) NP_597676.3:p.Ile6684Phe
NM_133437.4:c.20251A>T (TTN) NP_597681.4:p.Ile6751Phe
NR_038271.1:n.1605-1073T>A (TTN-AS1)
XM_011511729.1:c.45967A>T (TTN) XP_011510031.1:p.Ile15323Phe
XM_011511730.1:c.19861A>T (TTN) XP_011510032.1:p.Ile6621Phe
XM_011511731.1:c.19720A>T (TTN) XP_011510033.1:p.Ile6574Phe
XM_017004819.1:c.45763A>T (TTN) XP_016860308.1:p.Ile15255Phe
XM_017004820.1:c.41161A>T (TTN) XP_016860309.1:p.Ile13721Phe
XM_017004821.1:c.41158A>T (TTN) XP_016860310.1:p.Ile13720Phe
XM_017004822.1:c.38200A>T (TTN) XP_016860311.1:p.Ile12734Phe
XM_017004823.1:c.19816A>T (TTN) XP_016860312.1:p.Ile6606Phe
XM_024453094.1:c.41311A>T (TTN) XP_024308862.1:p.Ile13771Phe
XM_024453095.1:c.41308A>T (TTN) XP_024308863.1:p.Ile13770Phe
XM_024453096.1:c.40741A>T (TTN) XP_024308864.1:p.Ile13581Phe
XM_024453097.1:c.38083A>T (TTN) XP_024308865.1:p.Ile12695Phe
XM_024453098.1:c.38002A>T (TTN) XP_024308866.1:p.Ile12668Phe
XM_024453099.1:c.19765A>T (TTN) XP_024308867.1:p.Ile6589Phe
XM_024453100.1:c.9619A>T (TTN) XP_024308868.1:p.Ile3207Phe