Canonical Allele Identifier: CA1989307
Community Standard Title: NM_001267550.2(TTN):c.80774G>A (p.Arg26925Lys)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178565358C>T , CM000664.2:g.178565358C>T GRCh38
NC_000002.11:g.179430085C>T , CM000664.1:g.179430085C>T GRCh37
NC_000002.10:g.179138331C>T NCBI36
NG_011618.3:g.270445G>A , LRG_391:g.270445G>A
NG_051363.1:g.47532C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.80774G>A (TTN) MANE Select NP_001254479.2:p.Arg26925Lys
ENST00000589042.5:c.80774G>A (TTN) MANE Select ENSP00000467141.1:p.Arg26925Lys
NM_001256850.1:c.75851G>A (TTN) NP_001243779.1:p.Arg25284Lys
NM_003319.4:c.53579G>A (TTN) NP_003310.4:p.Arg17860Lys
NM_133378.4:c.73070G>A (TTN) NP_596869.4:p.Arg24357Lys
NM_133432.3:c.53954G>A (TTN) NP_597676.3:p.Arg17985Lys
NM_133437.4:c.54155G>A (TTN) NP_597681.4:p.Arg18052Lys
NR_038271.1:n.447-5942C>T (TTN-AS1)
NR_038272.1:n.2044-17214C>T (TTN-AS1)
ENST00000342175.10:c.54155G>A (TTN) ENSP00000340554.6:p.Arg18052Lys
ENST00000342175.11:c.54155G>A (TTN) ENSP00000340554.6:p.Arg18052Lys
ENST00000342992.10:c.73070G>A (TTN) ENSP00000343764.6:p.Arg24357Lys
ENST00000342992.11:c.73070G>A (TTN) ENSP00000343764.6:p.Arg24357Lys
ENST00000359218.10:c.53954G>A (TTN) ENSP00000352154.5:p.Arg17985Lys
ENST00000359218.9:c.53954G>A (TTN) ENSP00000352154.5:p.Arg17985Lys
ENST00000460472.6:c.53579G>A (TTN) ENSP00000434586.1:p.Arg17860Lys
ENST00000591111.5:c.75851G>A (TTN) ENSP00000465570.1:p.Arg25284Lys
ENST00000615779.4:c.75851G>A (TTN) ENSP00000483597.1:p.Arg25284Lys
XM_011511729.1:c.79871G>A (TTN) XP_011510031.1:p.Arg26624Lys
XM_011511730.1:c.53765G>A (TTN) XP_011510032.1:p.Arg17922Lys
XM_011511731.1:c.53624G>A (TTN) XP_011510033.1:p.Arg17875Lys
XM_017004819.1:c.79667G>A (TTN) XP_016860308.1:p.Arg26556Lys
XM_017004820.1:c.75065G>A (TTN) XP_016860309.1:p.Arg25022Lys
XM_017004821.1:c.75062G>A (TTN) XP_016860310.1:p.Arg25021Lys
XM_017004822.1:c.72104G>A (TTN) XP_016860311.1:p.Arg24035Lys
XM_017004823.1:c.53720G>A (TTN) XP_016860312.1:p.Arg17907Lys
XM_024453094.1:c.75215G>A (TTN) XP_024308862.1:p.Arg25072Lys
XM_024453095.1:c.75212G>A (TTN) XP_024308863.1:p.Arg25071Lys
XM_024453096.1:c.74645G>A (TTN) XP_024308864.1:p.Arg24882Lys
XM_024453097.1:c.71987G>A (TTN) XP_024308865.1:p.Arg23996Lys
XM_024453098.1:c.71906G>A (TTN) XP_024308866.1:p.Arg23969Lys
XM_024453099.1:c.53669G>A (TTN) XP_024308867.1:p.Arg17890Lys
XM_024453100.1:c.43523G>A (TTN) XP_024308868.1:p.Arg14508Lys