Canonical Allele Identifier: CA349611307

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568824T>A , CM000664.2:g.178568824T>A GRCh38
NC_000002.11:g.179433551T>A , CM000664.1:g.179433551T>A GRCh37
NC_000002.10:g.179141797T>A NCBI36
NG_011618.3:g.266979A>T , LRG_391:g.266979A>T
NG_051363.1:g.50998T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.69604A>T (TTN) ENSP00000343764.6:p.Arg23202Ter
ENST00000342175.11:c.50689A>T (TTN) ENSP00000340554.6:p.Arg16897Ter
ENST00000359218.10:c.50488A>T (TTN) ENSP00000352154.5:p.Arg16830Ter
ENST00000342175.10:c.50689A>T (TTN) ENSP00000340554.6:p.Arg16897Ter
ENST00000342992.10:c.69604A>T (TTN) ENSP00000343764.6:p.Arg23202Ter
ENST00000359218.9:c.50488A>T (TTN) ENSP00000352154.5:p.Arg16830Ter
ENST00000460472.6:c.50113A>T (TTN) ENSP00000434586.1:p.Arg16705Ter
ENST00000589042.5:c.77308A>T (TTN) MANE Select ENSP00000467141.1:p.Arg25770Ter
ENST00000591111.5:c.72385A>T (TTN) ENSP00000465570.1:p.Arg24129Ter
ENST00000615779.4:c.72385A>T (TTN) ENSP00000483597.1:p.Arg24129Ter
NM_001256850.1:c.72385A>T (TTN) NP_001243779.1:p.Arg24129Ter
NM_001267550.2:c.77308A>T (TTN) MANE Select NP_001254479.2:p.Arg25770Ter
NM_003319.4:c.50113A>T (TTN) NP_003310.4:p.Arg16705Ter
NM_133378.4:c.69604A>T (TTN) NP_596869.4:p.Arg23202Ter
NM_133432.3:c.50488A>T (TTN) NP_597676.3:p.Arg16830Ter
NM_133437.4:c.50689A>T (TTN) NP_597681.4:p.Arg16897Ter
NR_038271.1:n.447-2476T>A (TTN-AS1)
NR_038272.1:n.2044-13748T>A (TTN-AS1)
XM_011511729.1:c.76405A>T (TTN) XP_011510031.1:p.Arg25469Ter
XM_011511730.1:c.50299A>T (TTN) XP_011510032.1:p.Arg16767Ter
XM_011511731.1:c.50158A>T (TTN) XP_011510033.1:p.Arg16720Ter
XM_017004819.1:c.76201A>T (TTN) XP_016860308.1:p.Arg25401Ter
XM_017004820.1:c.71599A>T (TTN) XP_016860309.1:p.Arg23867Ter
XM_017004821.1:c.71596A>T (TTN) XP_016860310.1:p.Arg23866Ter
XM_017004822.1:c.68638A>T (TTN) XP_016860311.1:p.Arg22880Ter
XM_017004823.1:c.50254A>T (TTN) XP_016860312.1:p.Arg16752Ter
XM_024453094.1:c.71749A>T (TTN) XP_024308862.1:p.Arg23917Ter
XM_024453095.1:c.71746A>T (TTN) XP_024308863.1:p.Arg23916Ter
XM_024453096.1:c.71179A>T (TTN) XP_024308864.1:p.Arg23727Ter
XM_024453097.1:c.68521A>T (TTN) XP_024308865.1:p.Arg22841Ter
XM_024453098.1:c.68440A>T (TTN) XP_024308866.1:p.Arg22814Ter
XM_024453099.1:c.50203A>T (TTN) XP_024308867.1:p.Arg16735Ter
XM_024453100.1:c.40057A>T (TTN) XP_024308868.1:p.Arg13353Ter