Canonical Allele Identifier: CA1985479
Community Standard Title: NM_001267550.2(TTN):c.104126G>A (p.Arg34709His)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532489C>T , CM000664.2:g.178532489C>T GRCh38
NC_000002.11:g.179397216C>T , CM000664.1:g.179397216C>T GRCh37
NC_000002.10:g.179105462C>T NCBI36
NG_011618.3:g.303314G>A , LRG_391:g.303314G>A
NG_051363.1:g.14663C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.104126G>A (TTN) MANE Select NP_001254479.2:p.Arg34709His
ENST00000589042.5:c.104126G>A (TTN) MANE Select ENSP00000467141.1:p.Arg34709His
NM_001256850.1:c.99203G>A (TTN) NP_001243779.1:p.Arg33068His
NM_003319.4:c.76931G>A (TTN) NP_003310.4:p.Arg25644His
NM_133378.4:c.96422G>A (TTN) NP_596869.4:p.Arg32141His
NM_133432.3:c.77306G>A (TTN) NP_597676.3:p.Arg25769His
NM_133437.4:c.77507G>A (TTN) NP_597681.4:p.Arg25836His
NR_038271.1:n.446+8853C>T (TTN-AS1)
NR_038272.1:n.220-3243C>T (TTN-AS1)
ENST00000342175.10:c.77507G>A (TTN) ENSP00000340554.6:p.Arg25836His
ENST00000342175.11:c.77507G>A (TTN) ENSP00000340554.6:p.Arg25836His
ENST00000342992.10:c.96422G>A (TTN) ENSP00000343764.6:p.Arg32141His
ENST00000342992.11:c.96422G>A (TTN) ENSP00000343764.6:p.Arg32141His
ENST00000359218.10:c.77306G>A (TTN) ENSP00000352154.5:p.Arg25769His
ENST00000359218.9:c.77306G>A (TTN) ENSP00000352154.5:p.Arg25769His
ENST00000460472.6:c.76931G>A (TTN) ENSP00000434586.1:p.Arg25644His
ENST00000591111.5:c.99203G>A (TTN) ENSP00000465570.1:p.Arg33068His
ENST00000615779.4:c.99203G>A (TTN) ENSP00000483597.1:p.Arg33068His
XM_011511729.1:c.103223G>A (TTN) XP_011510031.1:p.Arg34408His
XM_011511730.1:c.77117G>A (TTN) XP_011510032.1:p.Arg25706His
XM_011511731.1:c.76976G>A (TTN) XP_011510033.1:p.Arg25659His
XM_017004819.1:c.103019G>A (TTN) XP_016860308.1:p.Arg34340His
XM_017004820.1:c.98417G>A (TTN) XP_016860309.1:p.Arg32806His
XM_017004821.1:c.98414G>A (TTN) XP_016860310.1:p.Arg32805His
XM_017004822.1:c.95456G>A (TTN) XP_016860311.1:p.Arg31819His
XM_017004823.1:c.77072G>A (TTN) XP_016860312.1:p.Arg25691His
XM_024453094.1:c.98567G>A (TTN) XP_024308862.1:p.Arg32856His
XM_024453095.1:c.98564G>A (TTN) XP_024308863.1:p.Arg32855His
XM_024453096.1:c.97997G>A (TTN) XP_024308864.1:p.Arg32666His
XM_024453097.1:c.95339G>A (TTN) XP_024308865.1:p.Arg31780His
XM_024453098.1:c.95258G>A (TTN) XP_024308866.1:p.Arg31753His
XM_024453099.1:c.77021G>A (TTN) XP_024308867.1:p.Arg25674His
XM_024453100.1:c.66875G>A (TTN) XP_024308868.1:p.Arg22292His