Canonical Allele Identifier: CA349636031
Community Standard Title: NM_001267550.2(TTN):c.74041C>T (p.Gln24681Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178572091G>A , CM000664.2:g.178572091G>A GRCh38
NC_000002.11:g.179436818G>A , CM000664.1:g.179436818G>A GRCh37
NC_000002.10:g.179145064G>A NCBI36
NG_011618.3:g.263712C>T , LRG_391:g.263712C>T
NG_051363.1:g.54265G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.74041C>T (TTN) MANE Select NP_001254479.2:p.Gln24681Ter
ENST00000589042.5:c.74041C>T (TTN) MANE Select ENSP00000467141.1:p.Gln24681Ter
NM_001256850.1:c.69118C>T (TTN) NP_001243779.1:p.Gln23040Ter
NM_003319.4:c.46846C>T (TTN) NP_003310.4:p.Gln15616Ter
NM_133378.4:c.66337C>T (TTN) NP_596869.4:p.Gln22113Ter
NM_133432.3:c.47221C>T (TTN) NP_597676.3:p.Gln15741Ter
NM_133437.4:c.47422C>T (TTN) NP_597681.4:p.Gln15808Ter
NR_038271.1:n.596+642G>A (TTN-AS1)
NR_038272.1:n.2044-10481G>A (TTN-AS1)
ENST00000342175.10:c.47422C>T (TTN) ENSP00000340554.6:p.Gln15808Ter
ENST00000342175.11:c.47422C>T (TTN) ENSP00000340554.6:p.Gln15808Ter
ENST00000342992.10:c.66337C>T (TTN) ENSP00000343764.6:p.Gln22113Ter
ENST00000342992.11:c.66337C>T (TTN) ENSP00000343764.6:p.Gln22113Ter
ENST00000359218.10:c.47221C>T (TTN) ENSP00000352154.5:p.Gln15741Ter
ENST00000359218.9:c.47221C>T (TTN) ENSP00000352154.5:p.Gln15741Ter
ENST00000460472.6:c.46846C>T (TTN) ENSP00000434586.1:p.Gln15616Ter
ENST00000591111.5:c.69118C>T (TTN) ENSP00000465570.1:p.Gln23040Ter
ENST00000615779.4:c.69118C>T (TTN) ENSP00000483597.1:p.Gln23040Ter
XM_011511729.1:c.73138C>T (TTN) XP_011510031.1:p.Gln24380Ter
XM_011511730.1:c.47032C>T (TTN) XP_011510032.1:p.Gln15678Ter
XM_011511731.1:c.46891C>T (TTN) XP_011510033.1:p.Gln15631Ter
XM_017004819.1:c.72934C>T (TTN) XP_016860308.1:p.Gln24312Ter
XM_017004820.1:c.68332C>T (TTN) XP_016860309.1:p.Gln22778Ter
XM_017004821.1:c.68329C>T (TTN) XP_016860310.1:p.Gln22777Ter
XM_017004822.1:c.65371C>T (TTN) XP_016860311.1:p.Gln21791Ter
XM_017004823.1:c.46987C>T (TTN) XP_016860312.1:p.Gln15663Ter
XM_024453094.1:c.68482C>T (TTN) XP_024308862.1:p.Gln22828Ter
XM_024453095.1:c.68479C>T (TTN) XP_024308863.1:p.Gln22827Ter
XM_024453096.1:c.67912C>T (TTN) XP_024308864.1:p.Gln22638Ter
XM_024453097.1:c.65254C>T (TTN) XP_024308865.1:p.Gln21752Ter
XM_024453098.1:c.65173C>T (TTN) XP_024308866.1:p.Gln21725Ter
XM_024453099.1:c.46936C>T (TTN) XP_024308867.1:p.Gln15646Ter
XM_024453100.1:c.36790C>T (TTN) XP_024308868.1:p.Gln12264Ter