Canonical Allele Identifier: CA349578510
Community Standard Title: NM_001267550.2(TTN):c.81715C>T (p.Gln27239Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178564417G>A , CM000664.2:g.178564417G>A GRCh38
NC_000002.11:g.179429144G>A , CM000664.1:g.179429144G>A GRCh37
NC_000002.10:g.179137390G>A NCBI36
NG_011618.3:g.271386C>T , LRG_391:g.271386C>T
NG_051363.1:g.46591G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.81715C>T (TTN) MANE Select NP_001254479.2:p.Gln27239Ter
ENST00000589042.5:c.81715C>T (TTN) MANE Select ENSP00000467141.1:p.Gln27239Ter
NM_001256850.1:c.76792C>T (TTN) NP_001243779.1:p.Gln25598Ter
NM_003319.4:c.54520C>T (TTN) NP_003310.4:p.Gln18174Ter
NM_133378.4:c.74011C>T (TTN) NP_596869.4:p.Gln24671Ter
NM_133432.3:c.54895C>T (TTN) NP_597676.3:p.Gln18299Ter
NM_133437.4:c.55096C>T (TTN) NP_597681.4:p.Gln18366Ter
NR_038271.1:n.447-6883G>A (TTN-AS1)
NR_038272.1:n.2044-18155G>A (TTN-AS1)
ENST00000342175.10:c.55096C>T (TTN) ENSP00000340554.6:p.Gln18366Ter
ENST00000342175.11:c.55096C>T (TTN) ENSP00000340554.6:p.Gln18366Ter
ENST00000342992.10:c.74011C>T (TTN) ENSP00000343764.6:p.Gln24671Ter
ENST00000342992.11:c.74011C>T (TTN) ENSP00000343764.6:p.Gln24671Ter
ENST00000359218.10:c.54895C>T (TTN) ENSP00000352154.5:p.Gln18299Ter
ENST00000359218.9:c.54895C>T (TTN) ENSP00000352154.5:p.Gln18299Ter
ENST00000460472.6:c.54520C>T (TTN) ENSP00000434586.1:p.Gln18174Ter
ENST00000591111.5:c.76792C>T (TTN) ENSP00000465570.1:p.Gln25598Ter
ENST00000615779.4:c.76792C>T (TTN) ENSP00000483597.1:p.Gln25598Ter
XM_011511729.1:c.80812C>T (TTN) XP_011510031.1:p.Gln26938Ter
XM_011511730.1:c.54706C>T (TTN) XP_011510032.1:p.Gln18236Ter
XM_011511731.1:c.54565C>T (TTN) XP_011510033.1:p.Gln18189Ter
XM_017004819.1:c.80608C>T (TTN) XP_016860308.1:p.Gln26870Ter
XM_017004820.1:c.76006C>T (TTN) XP_016860309.1:p.Gln25336Ter
XM_017004821.1:c.76003C>T (TTN) XP_016860310.1:p.Gln25335Ter
XM_017004822.1:c.73045C>T (TTN) XP_016860311.1:p.Gln24349Ter
XM_017004823.1:c.54661C>T (TTN) XP_016860312.1:p.Gln18221Ter
XM_024453094.1:c.76156C>T (TTN) XP_024308862.1:p.Gln25386Ter
XM_024453095.1:c.76153C>T (TTN) XP_024308863.1:p.Gln25385Ter
XM_024453096.1:c.75586C>T (TTN) XP_024308864.1:p.Gln25196Ter
XM_024453097.1:c.72928C>T (TTN) XP_024308865.1:p.Gln24310Ter
XM_024453098.1:c.72847C>T (TTN) XP_024308866.1:p.Gln24283Ter
XM_024453099.1:c.54610C>T (TTN) XP_024308867.1:p.Gln18204Ter
XM_024453100.1:c.44464C>T (TTN) XP_024308868.1:p.Gln14822Ter