Canonical Allele Identifier: CA60988923
Community Standard Title: NM_001267550.2(TTN):c.80539C>T (p.Gln26847Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178565593G>A , CM000664.2:g.178565593G>A GRCh38
NC_000002.11:g.179430320G>A , CM000664.1:g.179430320G>A GRCh37
NC_000002.10:g.179138566G>A NCBI36
NG_011618.3:g.270210C>T , LRG_391:g.270210C>T
NG_051363.1:g.47767G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.80539C>T (TTN) MANE Select NP_001254479.2:p.Gln26847Ter
ENST00000589042.5:c.80539C>T (TTN) MANE Select ENSP00000467141.1:p.Gln26847Ter
NM_001256850.1:c.75616C>T (TTN) NP_001243779.1:p.Gln25206Ter
NM_003319.4:c.53344C>T (TTN) NP_003310.4:p.Gln17782Ter
NM_133378.4:c.72835C>T (TTN) NP_596869.4:p.Gln24279Ter
NM_133432.3:c.53719C>T (TTN) NP_597676.3:p.Gln17907Ter
NM_133437.4:c.53920C>T (TTN) NP_597681.4:p.Gln17974Ter
NR_038271.1:n.447-5707G>A (TTN-AS1)
NR_038272.1:n.2044-16979G>A (TTN-AS1)
ENST00000342175.10:c.53920C>T (TTN) ENSP00000340554.6:p.Gln17974Ter
ENST00000342175.11:c.53920C>T (TTN) ENSP00000340554.6:p.Gln17974Ter
ENST00000342992.10:c.72835C>T (TTN) ENSP00000343764.6:p.Gln24279Ter
ENST00000342992.11:c.72835C>T (TTN) ENSP00000343764.6:p.Gln24279Ter
ENST00000359218.10:c.53719C>T (TTN) ENSP00000352154.5:p.Gln17907Ter
ENST00000359218.9:c.53719C>T (TTN) ENSP00000352154.5:p.Gln17907Ter
ENST00000460472.6:c.53344C>T (TTN) ENSP00000434586.1:p.Gln17782Ter
ENST00000591111.5:c.75616C>T (TTN) ENSP00000465570.1:p.Gln25206Ter
ENST00000615779.4:c.75616C>T (TTN) ENSP00000483597.1:p.Gln25206Ter
XM_011511729.1:c.79636C>T (TTN) XP_011510031.1:p.Gln26546Ter
XM_011511730.1:c.53530C>T (TTN) XP_011510032.1:p.Gln17844Ter
XM_011511731.1:c.53389C>T (TTN) XP_011510033.1:p.Gln17797Ter
XM_017004819.1:c.79432C>T (TTN) XP_016860308.1:p.Gln26478Ter
XM_017004820.1:c.74830C>T (TTN) XP_016860309.1:p.Gln24944Ter
XM_017004821.1:c.74827C>T (TTN) XP_016860310.1:p.Gln24943Ter
XM_017004822.1:c.71869C>T (TTN) XP_016860311.1:p.Gln23957Ter
XM_017004823.1:c.53485C>T (TTN) XP_016860312.1:p.Gln17829Ter
XM_024453094.1:c.74980C>T (TTN) XP_024308862.1:p.Gln24994Ter
XM_024453095.1:c.74977C>T (TTN) XP_024308863.1:p.Gln24993Ter
XM_024453096.1:c.74410C>T (TTN) XP_024308864.1:p.Gln24804Ter
XM_024453097.1:c.71752C>T (TTN) XP_024308865.1:p.Gln23918Ter
XM_024453098.1:c.71671C>T (TTN) XP_024308866.1:p.Gln23891Ter
XM_024453099.1:c.53434C>T (TTN) XP_024308867.1:p.Gln17812Ter
XM_024453100.1:c.43288C>T (TTN) XP_024308868.1:p.Gln14430Ter