Canonical Allele Identifier: CA1985494
Community Standard Title: NM_001267550.2(TTN):c.104045G>A (p.Arg34682His)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532570C>T , CM000664.2:g.178532570C>T GRCh38
NC_000002.11:g.179397297C>T , CM000664.1:g.179397297C>T GRCh37
NC_000002.10:g.179105543C>T NCBI36
NG_011618.3:g.303233G>A , LRG_391:g.303233G>A
NG_051363.1:g.14744C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.104045G>A (TTN) MANE Select NP_001254479.2:p.Arg34682His
ENST00000589042.5:c.104045G>A (TTN) MANE Select ENSP00000467141.1:p.Arg34682His
NM_001256850.1:c.99122G>A (TTN) NP_001243779.1:p.Arg33041His
NM_003319.4:c.76850G>A (TTN) NP_003310.4:p.Arg25617His
NM_133378.4:c.96341G>A (TTN) NP_596869.4:p.Arg32114His
NM_133432.3:c.77225G>A (TTN) NP_597676.3:p.Arg25742His
NM_133437.4:c.77426G>A (TTN) NP_597681.4:p.Arg25809His
NR_038271.1:n.446+8934C>T (TTN-AS1)
NR_038272.1:n.220-3162C>T (TTN-AS1)
ENST00000342175.10:c.77426G>A (TTN) ENSP00000340554.6:p.Arg25809His
ENST00000342175.11:c.77426G>A (TTN) ENSP00000340554.6:p.Arg25809His
ENST00000342992.10:c.96341G>A (TTN) ENSP00000343764.6:p.Arg32114His
ENST00000342992.11:c.96341G>A (TTN) ENSP00000343764.6:p.Arg32114His
ENST00000359218.10:c.77225G>A (TTN) ENSP00000352154.5:p.Arg25742His
ENST00000359218.9:c.77225G>A (TTN) ENSP00000352154.5:p.Arg25742His
ENST00000460472.6:c.76850G>A (TTN) ENSP00000434586.1:p.Arg25617His
ENST00000591111.5:c.99122G>A (TTN) ENSP00000465570.1:p.Arg33041His
ENST00000615779.4:c.99122G>A (TTN) ENSP00000483597.1:p.Arg33041His
XM_011511729.1:c.103142G>A (TTN) XP_011510031.1:p.Arg34381His
XM_011511730.1:c.77036G>A (TTN) XP_011510032.1:p.Arg25679His
XM_011511731.1:c.76895G>A (TTN) XP_011510033.1:p.Arg25632His
XM_017004819.1:c.102938G>A (TTN) XP_016860308.1:p.Arg34313His
XM_017004820.1:c.98336G>A (TTN) XP_016860309.1:p.Arg32779His
XM_017004821.1:c.98333G>A (TTN) XP_016860310.1:p.Arg32778His
XM_017004822.1:c.95375G>A (TTN) XP_016860311.1:p.Arg31792His
XM_017004823.1:c.76991G>A (TTN) XP_016860312.1:p.Arg25664His
XM_024453094.1:c.98486G>A (TTN) XP_024308862.1:p.Arg32829His
XM_024453095.1:c.98483G>A (TTN) XP_024308863.1:p.Arg32828His
XM_024453096.1:c.97916G>A (TTN) XP_024308864.1:p.Arg32639His
XM_024453097.1:c.95258G>A (TTN) XP_024308865.1:p.Arg31753His
XM_024453098.1:c.95177G>A (TTN) XP_024308866.1:p.Arg31726His
XM_024453099.1:c.76940G>A (TTN) XP_024308867.1:p.Arg25647His
XM_024453100.1:c.66794G>A (TTN) XP_024308868.1:p.Arg22265His