Canonical Allele Identifier: CA349539546
Community Standard Title: NM_001267550.2(TTN):c.55639C>T (p.Gln18547Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178601358G>A , CM000664.2:g.178601358G>A GRCh38
NC_000002.11:g.179466085G>A , CM000664.1:g.179466085G>A GRCh37
NC_000002.10:g.179174330G>A NCBI36
NG_011618.3:g.234445C>T , LRG_391:g.234445C>T
NG_051363.1:g.83532G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.55639C>T (TTN) MANE Select NP_001254479.2:p.Gln18547Ter
ENST00000589042.5:c.55639C>T (TTN) MANE Select ENSP00000467141.1:p.Gln18547Ter
NM_001256850.1:c.50716C>T (TTN) NP_001243779.1:p.Gln16906Ter
NM_003319.4:c.28444C>T (TTN) NP_003310.4:p.Gln9482Ter
NM_133378.4:c.47935C>T (TTN) NP_596869.4:p.Gln15979Ter
NM_133432.3:c.28819C>T (TTN) NP_597676.3:p.Gln9607Ter
NM_133437.4:c.29020C>T (TTN) NP_597681.4:p.Gln9674Ter
NR_038271.1:n.682+3677G>A (TTN-AS1)
NR_038272.1:n.3917+691G>A (TTN-AS1)
ENST00000342175.10:c.29020C>T (TTN) ENSP00000340554.6:p.Gln9674Ter
ENST00000342175.11:c.29020C>T (TTN) ENSP00000340554.6:p.Gln9674Ter
ENST00000342992.10:c.47935C>T (TTN) ENSP00000343764.6:p.Gln15979Ter
ENST00000342992.11:c.47935C>T (TTN) ENSP00000343764.6:p.Gln15979Ter
ENST00000359218.10:c.28819C>T (TTN) ENSP00000352154.5:p.Gln9607Ter
ENST00000359218.9:c.28819C>T (TTN) ENSP00000352154.5:p.Gln9607Ter
ENST00000460472.6:c.28444C>T (TTN) ENSP00000434586.1:p.Gln9482Ter
ENST00000591111.5:c.50716C>T (TTN) ENSP00000465570.1:p.Gln16906Ter
ENST00000615779.4:c.50716C>T (TTN) ENSP00000483597.1:p.Gln16906Ter
XM_011511729.1:c.54736C>T (TTN) XP_011510031.1:p.Gln18246Ter
XM_011511730.1:c.28630C>T (TTN) XP_011510032.1:p.Gln9544Ter
XM_011511731.1:c.28489C>T (TTN) XP_011510033.1:p.Gln9497Ter
XM_017004819.1:c.54532C>T (TTN) XP_016860308.1:p.Gln18178Ter
XM_017004820.1:c.49930C>T (TTN) XP_016860309.1:p.Gln16644Ter
XM_017004821.1:c.49927C>T (TTN) XP_016860310.1:p.Gln16643Ter
XM_017004822.1:c.46969C>T (TTN) XP_016860311.1:p.Gln15657Ter
XM_017004823.1:c.28585C>T (TTN) XP_016860312.1:p.Gln9529Ter
XM_024453094.1:c.50080C>T (TTN) XP_024308862.1:p.Gln16694Ter
XM_024453095.1:c.50077C>T (TTN) XP_024308863.1:p.Gln16693Ter
XM_024453096.1:c.49510C>T (TTN) XP_024308864.1:p.Gln16504Ter
XM_024453097.1:c.46852C>T (TTN) XP_024308865.1:p.Gln15618Ter
XM_024453098.1:c.46771C>T (TTN) XP_024308866.1:p.Gln15591Ter
XM_024453099.1:c.28534C>T (TTN) XP_024308867.1:p.Gln9512Ter
XM_024453100.1:c.18388C>T (TTN) XP_024308868.1:p.Gln6130Ter