Canonical Allele Identifier: CA349635880
Community Standard Title: NM_001267550.2(TTN):c.74074C>T (p.Gln24692Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178572058G>A , CM000664.2:g.178572058G>A GRCh38
NC_000002.11:g.179436785G>A , CM000664.1:g.179436785G>A GRCh37
NC_000002.10:g.179145031G>A NCBI36
NG_011618.3:g.263745C>T , LRG_391:g.263745C>T
NG_051363.1:g.54232G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.74074C>T (TTN) MANE Select NP_001254479.2:p.Gln24692Ter
ENST00000589042.5:c.74074C>T (TTN) MANE Select ENSP00000467141.1:p.Gln24692Ter
NM_001256850.1:c.69151C>T (TTN) NP_001243779.1:p.Gln23051Ter
NM_003319.4:c.46879C>T (TTN) NP_003310.4:p.Gln15627Ter
NM_133378.4:c.66370C>T (TTN) NP_596869.4:p.Gln22124Ter
NM_133432.3:c.47254C>T (TTN) NP_597676.3:p.Gln15752Ter
NM_133437.4:c.47455C>T (TTN) NP_597681.4:p.Gln15819Ter
NR_038271.1:n.596+609G>A (TTN-AS1)
NR_038272.1:n.2044-10514G>A (TTN-AS1)
ENST00000342175.10:c.47455C>T (TTN) ENSP00000340554.6:p.Gln15819Ter
ENST00000342175.11:c.47455C>T (TTN) ENSP00000340554.6:p.Gln15819Ter
ENST00000342992.10:c.66370C>T (TTN) ENSP00000343764.6:p.Gln22124Ter
ENST00000342992.11:c.66370C>T (TTN) ENSP00000343764.6:p.Gln22124Ter
ENST00000359218.10:c.47254C>T (TTN) ENSP00000352154.5:p.Gln15752Ter
ENST00000359218.9:c.47254C>T (TTN) ENSP00000352154.5:p.Gln15752Ter
ENST00000460472.6:c.46879C>T (TTN) ENSP00000434586.1:p.Gln15627Ter
ENST00000591111.5:c.69151C>T (TTN) ENSP00000465570.1:p.Gln23051Ter
ENST00000615779.4:c.69151C>T (TTN) ENSP00000483597.1:p.Gln23051Ter
XM_011511729.1:c.73171C>T (TTN) XP_011510031.1:p.Gln24391Ter
XM_011511730.1:c.47065C>T (TTN) XP_011510032.1:p.Gln15689Ter
XM_011511731.1:c.46924C>T (TTN) XP_011510033.1:p.Gln15642Ter
XM_017004819.1:c.72967C>T (TTN) XP_016860308.1:p.Gln24323Ter
XM_017004820.1:c.68365C>T (TTN) XP_016860309.1:p.Gln22789Ter
XM_017004821.1:c.68362C>T (TTN) XP_016860310.1:p.Gln22788Ter
XM_017004822.1:c.65404C>T (TTN) XP_016860311.1:p.Gln21802Ter
XM_017004823.1:c.47020C>T (TTN) XP_016860312.1:p.Gln15674Ter
XM_024453094.1:c.68515C>T (TTN) XP_024308862.1:p.Gln22839Ter
XM_024453095.1:c.68512C>T (TTN) XP_024308863.1:p.Gln22838Ter
XM_024453096.1:c.67945C>T (TTN) XP_024308864.1:p.Gln22649Ter
XM_024453097.1:c.65287C>T (TTN) XP_024308865.1:p.Gln21763Ter
XM_024453098.1:c.65206C>T (TTN) XP_024308866.1:p.Gln21736Ter
XM_024453099.1:c.46969C>T (TTN) XP_024308867.1:p.Gln15657Ter
XM_024453100.1:c.36823C>T (TTN) XP_024308868.1:p.Gln12275Ter