Canonical Allele Identifier: CA349571891
Community Standard Title: NM_001267550.2(TTN):c.82732A>T (p.Lys27578Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178563400T>A , CM000664.2:g.178563400T>A GRCh38
NC_000002.11:g.179428127T>A , CM000664.1:g.179428127T>A GRCh37
NC_000002.10:g.179136373T>A NCBI36
NG_011618.3:g.272403A>T , LRG_391:g.272403A>T
NG_051363.1:g.45574T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.82732A>T (TTN) MANE Select NP_001254479.2:p.Lys27578Ter
ENST00000589042.5:c.82732A>T (TTN) MANE Select ENSP00000467141.1:p.Lys27578Ter
NM_001256850.1:c.77809A>T (TTN) NP_001243779.1:p.Lys25937Ter
NM_003319.4:c.55537A>T (TTN) NP_003310.4:p.Lys18513Ter
NM_133378.4:c.75028A>T (TTN) NP_596869.4:p.Lys25010Ter
NM_133432.3:c.55912A>T (TTN) NP_597676.3:p.Lys18638Ter
NM_133437.4:c.56113A>T (TTN) NP_597681.4:p.Lys18705Ter
NR_038271.1:n.447-7900T>A (TTN-AS1)
NR_038272.1:n.2044-19172T>A (TTN-AS1)
ENST00000342175.10:c.56113A>T (TTN) ENSP00000340554.6:p.Lys18705Ter
ENST00000342175.11:c.56113A>T (TTN) ENSP00000340554.6:p.Lys18705Ter
ENST00000342992.10:c.75028A>T (TTN) ENSP00000343764.6:p.Lys25010Ter
ENST00000342992.11:c.75028A>T (TTN) ENSP00000343764.6:p.Lys25010Ter
ENST00000359218.10:c.55912A>T (TTN) ENSP00000352154.5:p.Lys18638Ter
ENST00000359218.9:c.55912A>T (TTN) ENSP00000352154.5:p.Lys18638Ter
ENST00000460472.6:c.55537A>T (TTN) ENSP00000434586.1:p.Lys18513Ter
ENST00000591111.5:c.77809A>T (TTN) ENSP00000465570.1:p.Lys25937Ter
ENST00000615779.4:c.77809A>T (TTN) ENSP00000483597.1:p.Lys25937Ter
XM_011511729.1:c.81829A>T (TTN) XP_011510031.1:p.Lys27277Ter
XM_011511730.1:c.55723A>T (TTN) XP_011510032.1:p.Lys18575Ter
XM_011511731.1:c.55582A>T (TTN) XP_011510033.1:p.Lys18528Ter
XM_017004819.1:c.81625A>T (TTN) XP_016860308.1:p.Lys27209Ter
XM_017004820.1:c.77023A>T (TTN) XP_016860309.1:p.Lys25675Ter
XM_017004821.1:c.77020A>T (TTN) XP_016860310.1:p.Lys25674Ter
XM_017004822.1:c.74062A>T (TTN) XP_016860311.1:p.Lys24688Ter
XM_017004823.1:c.55678A>T (TTN) XP_016860312.1:p.Lys18560Ter
XM_024453094.1:c.77173A>T (TTN) XP_024308862.1:p.Lys25725Ter
XM_024453095.1:c.77170A>T (TTN) XP_024308863.1:p.Lys25724Ter
XM_024453096.1:c.76603A>T (TTN) XP_024308864.1:p.Lys25535Ter
XM_024453097.1:c.73945A>T (TTN) XP_024308865.1:p.Lys24649Ter
XM_024453098.1:c.73864A>T (TTN) XP_024308866.1:p.Lys24622Ter
XM_024453099.1:c.55627A>T (TTN) XP_024308867.1:p.Lys18543Ter
XM_024453100.1:c.45481A>T (TTN) XP_024308868.1:p.Lys15161Ter