Canonical Allele Identifier: CA349621856

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178570555T>A , CM000664.2:g.178570555T>A GRCh38
NC_000002.11:g.179435282T>A , CM000664.1:g.179435282T>A GRCh37
NC_000002.10:g.179143528T>A NCBI36
NG_011618.3:g.265248A>T , LRG_391:g.265248A>T
NG_051363.1:g.52729T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.67873A>T (TTN) ENSP00000343764.6:p.Arg22625Ter
ENST00000342175.11:c.48958A>T (TTN) ENSP00000340554.6:p.Arg16320Ter
ENST00000359218.10:c.48757A>T (TTN) ENSP00000352154.5:p.Arg16253Ter
ENST00000342175.10:c.48958A>T (TTN) ENSP00000340554.6:p.Arg16320Ter
ENST00000342992.10:c.67873A>T (TTN) ENSP00000343764.6:p.Arg22625Ter
ENST00000359218.9:c.48757A>T (TTN) ENSP00000352154.5:p.Arg16253Ter
ENST00000460472.6:c.48382A>T (TTN) ENSP00000434586.1:p.Arg16128Ter
ENST00000589042.5:c.75577A>T (TTN) MANE Select ENSP00000467141.1:p.Arg25193Ter
ENST00000591111.5:c.70654A>T (TTN) ENSP00000465570.1:p.Arg23552Ter
ENST00000615779.4:c.70654A>T (TTN) ENSP00000483597.1:p.Arg23552Ter
NM_001256850.1:c.70654A>T (TTN) NP_001243779.1:p.Arg23552Ter
NM_001267550.2:c.75577A>T (TTN) MANE Select NP_001254479.2:p.Arg25193Ter
NM_003319.4:c.48382A>T (TTN) NP_003310.4:p.Arg16128Ter
NM_133378.4:c.67873A>T (TTN) NP_596869.4:p.Arg22625Ter
NM_133432.3:c.48757A>T (TTN) NP_597676.3:p.Arg16253Ter
NM_133437.4:c.48958A>T (TTN) NP_597681.4:p.Arg16320Ter
NR_038271.1:n.447-745T>A (TTN-AS1)
NR_038272.1:n.2044-12017T>A (TTN-AS1)
XM_011511729.1:c.74674A>T (TTN) XP_011510031.1:p.Arg24892Ter
XM_011511730.1:c.48568A>T (TTN) XP_011510032.1:p.Arg16190Ter
XM_011511731.1:c.48427A>T (TTN) XP_011510033.1:p.Arg16143Ter
XM_017004819.1:c.74470A>T (TTN) XP_016860308.1:p.Arg24824Ter
XM_017004820.1:c.69868A>T (TTN) XP_016860309.1:p.Arg23290Ter
XM_017004821.1:c.69865A>T (TTN) XP_016860310.1:p.Arg23289Ter
XM_017004822.1:c.66907A>T (TTN) XP_016860311.1:p.Arg22303Ter
XM_017004823.1:c.48523A>T (TTN) XP_016860312.1:p.Arg16175Ter
XM_024453094.1:c.70018A>T (TTN) XP_024308862.1:p.Arg23340Ter
XM_024453095.1:c.70015A>T (TTN) XP_024308863.1:p.Arg23339Ter
XM_024453096.1:c.69448A>T (TTN) XP_024308864.1:p.Arg23150Ter
XM_024453097.1:c.66790A>T (TTN) XP_024308865.1:p.Arg22264Ter
XM_024453098.1:c.66709A>T (TTN) XP_024308866.1:p.Arg22237Ter
XM_024453099.1:c.48472A>T (TTN) XP_024308867.1:p.Arg16158Ter
XM_024453100.1:c.38326A>T (TTN) XP_024308868.1:p.Arg12776Ter