Canonical Allele Identifier: CA1985240
Community Standard Title: NM_001267550.2(TTN):c.105520C>T (p.Arg35174Cys)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531095G>A , CM000664.2:g.178531095G>A GRCh38
NC_000002.11:g.179395822G>A , CM000664.1:g.179395822G>A GRCh37
NC_000002.10:g.179104068G>A NCBI36
NG_011618.3:g.304708C>T , LRG_391:g.304708C>T
NG_051363.1:g.13269G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.105520C>T (TTN) MANE Select NP_001254479.2:p.Arg35174Cys
ENST00000589042.5:c.105520C>T (TTN) MANE Select ENSP00000467141.1:p.Arg35174Cys
NM_001256850.1:c.100597C>T (TTN) NP_001243779.1:p.Arg33533Cys
NM_003319.4:c.78325C>T (TTN) NP_003310.4:p.Arg26109Cys
NM_133378.4:c.97816C>T (TTN) NP_596869.4:p.Arg32606Cys
NM_133432.3:c.78700C>T (TTN) NP_597676.3:p.Arg26234Cys
NM_133437.4:c.78901C>T (TTN) NP_597681.4:p.Arg26301Cys
NR_038271.1:n.446+7459G>A (TTN-AS1)
NR_038272.1:n.220-4637G>A (TTN-AS1)
ENST00000342175.10:c.78901C>T (TTN) ENSP00000340554.6:p.Arg26301Cys
ENST00000342175.11:c.78901C>T (TTN) ENSP00000340554.6:p.Arg26301Cys
ENST00000342992.10:c.97816C>T (TTN) ENSP00000343764.6:p.Arg32606Cys
ENST00000342992.11:c.97816C>T (TTN) ENSP00000343764.6:p.Arg32606Cys
ENST00000359218.10:c.78700C>T (TTN) ENSP00000352154.5:p.Arg26234Cys
ENST00000359218.9:c.78700C>T (TTN) ENSP00000352154.5:p.Arg26234Cys
ENST00000460472.6:c.78325C>T (TTN) ENSP00000434586.1:p.Arg26109Cys
ENST00000591111.5:c.100597C>T (TTN) ENSP00000465570.1:p.Arg33533Cys
ENST00000615779.4:c.100597C>T (TTN) ENSP00000483597.1:p.Arg33533Cys
XM_011511729.1:c.104617C>T (TTN) XP_011510031.1:p.Arg34873Cys
XM_011511730.1:c.78511C>T (TTN) XP_011510032.1:p.Arg26171Cys
XM_011511731.1:c.78370C>T (TTN) XP_011510033.1:p.Arg26124Cys
XM_017004819.1:c.104413C>T (TTN) XP_016860308.1:p.Arg34805Cys
XM_017004820.1:c.99811C>T (TTN) XP_016860309.1:p.Arg33271Cys
XM_017004821.1:c.99808C>T (TTN) XP_016860310.1:p.Arg33270Cys
XM_017004822.1:c.96850C>T (TTN) XP_016860311.1:p.Arg32284Cys
XM_017004823.1:c.78466C>T (TTN) XP_016860312.1:p.Arg26156Cys
XM_024453094.1:c.99961C>T (TTN) XP_024308862.1:p.Arg33321Cys
XM_024453095.1:c.99958C>T (TTN) XP_024308863.1:p.Arg33320Cys
XM_024453096.1:c.99391C>T (TTN) XP_024308864.1:p.Arg33131Cys
XM_024453097.1:c.96733C>T (TTN) XP_024308865.1:p.Arg32245Cys
XM_024453098.1:c.96652C>T (TTN) XP_024308866.1:p.Arg32218Cys
XM_024453099.1:c.78415C>T (TTN) XP_024308867.1:p.Arg26139Cys
XM_024453100.1:c.68269C>T (TTN) XP_024308868.1:p.Arg22757Cys