Canonical Allele Identifier: CA349425333
Community Standard Title: NM_001267550.2(TTN):c.100594C>T (p.Gln33532Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178536153G>A , CM000664.2:g.178536153G>A GRCh38
NC_000002.11:g.179400880G>A , CM000664.1:g.179400880G>A GRCh37
NC_000002.10:g.179109126G>A NCBI36
NG_011618.3:g.299650C>T , LRG_391:g.299650C>T
NG_051363.1:g.18327G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.100594C>T (TTN) MANE Select NP_001254479.2:p.Gln33532Ter
ENST00000589042.5:c.100594C>T (TTN) MANE Select ENSP00000467141.1:p.Gln33532Ter
NM_001256850.1:c.95671C>T (TTN) NP_001243779.1:p.Gln31891Ter
NM_003319.4:c.73399C>T (TTN) NP_003310.4:p.Gln24467Ter
NM_133378.4:c.92890C>T (TTN) NP_596869.4:p.Gln30964Ter
NM_133432.3:c.73774C>T (TTN) NP_597676.3:p.Gln24592Ter
NM_133437.4:c.73975C>T (TTN) NP_597681.4:p.Gln24659Ter
NR_038271.1:n.446+12517G>A (TTN-AS1)
NR_038272.1:n.316+325G>A (TTN-AS1)
ENST00000342175.10:c.73975C>T (TTN) ENSP00000340554.6:p.Gln24659Ter
ENST00000342175.11:c.73975C>T (TTN) ENSP00000340554.6:p.Gln24659Ter
ENST00000342992.10:c.92890C>T (TTN) ENSP00000343764.6:p.Gln30964Ter
ENST00000342992.11:c.92890C>T (TTN) ENSP00000343764.6:p.Gln30964Ter
ENST00000359218.10:c.73774C>T (TTN) ENSP00000352154.5:p.Gln24592Ter
ENST00000359218.9:c.73774C>T (TTN) ENSP00000352154.5:p.Gln24592Ter
ENST00000460472.6:c.73399C>T (TTN) ENSP00000434586.1:p.Gln24467Ter
ENST00000591111.5:c.95671C>T (TTN) ENSP00000465570.1:p.Gln31891Ter
ENST00000615779.4:c.95671C>T (TTN) ENSP00000483597.1:p.Gln31891Ter
XM_011511729.1:c.99691C>T (TTN) XP_011510031.1:p.Gln33231Ter
XM_011511730.1:c.73585C>T (TTN) XP_011510032.1:p.Gln24529Ter
XM_011511731.1:c.73444C>T (TTN) XP_011510033.1:p.Gln24482Ter
XM_017004819.1:c.99487C>T (TTN) XP_016860308.1:p.Gln33163Ter
XM_017004820.1:c.94885C>T (TTN) XP_016860309.1:p.Gln31629Ter
XM_017004821.1:c.94882C>T (TTN) XP_016860310.1:p.Gln31628Ter
XM_017004822.1:c.91924C>T (TTN) XP_016860311.1:p.Gln30642Ter
XM_017004823.1:c.73540C>T (TTN) XP_016860312.1:p.Gln24514Ter
XM_024453094.1:c.95035C>T (TTN) XP_024308862.1:p.Gln31679Ter
XM_024453095.1:c.95032C>T (TTN) XP_024308863.1:p.Gln31678Ter
XM_024453096.1:c.94465C>T (TTN) XP_024308864.1:p.Gln31489Ter
XM_024453097.1:c.91807C>T (TTN) XP_024308865.1:p.Gln30603Ter
XM_024453098.1:c.91726C>T (TTN) XP_024308866.1:p.Gln30576Ter
XM_024453099.1:c.73489C>T (TTN) XP_024308867.1:p.Gln24497Ter
XM_024453100.1:c.63343C>T (TTN) XP_024308868.1:p.Gln21115Ter