Canonical Allele Identifier: CA1989810
Community Standard Title: NM_001267550.2(TTN):c.77185A>T (p.Lys25729Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568947T>A , CM000664.2:g.178568947T>A GRCh38
NC_000002.11:g.179433674T>A , CM000664.1:g.179433674T>A GRCh37
NC_000002.10:g.179141920T>A NCBI36
NG_011618.3:g.266856A>T , LRG_391:g.266856A>T
NG_051363.1:g.51121T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.77185A>T (TTN) MANE Select NP_001254479.2:p.Lys25729Ter
ENST00000589042.5:c.77185A>T (TTN) MANE Select ENSP00000467141.1:p.Lys25729Ter
NM_001256850.1:c.72262A>T (TTN) NP_001243779.1:p.Lys24088Ter
NM_003319.4:c.49990A>T (TTN) NP_003310.4:p.Lys16664Ter
NM_133378.4:c.69481A>T (TTN) NP_596869.4:p.Lys23161Ter
NM_133432.3:c.50365A>T (TTN) NP_597676.3:p.Lys16789Ter
NM_133437.4:c.50566A>T (TTN) NP_597681.4:p.Lys16856Ter
NR_038271.1:n.447-2353T>A (TTN-AS1)
NR_038272.1:n.2044-13625T>A (TTN-AS1)
ENST00000342175.10:c.50566A>T (TTN) ENSP00000340554.6:p.Lys16856Ter
ENST00000342175.11:c.50566A>T (TTN) ENSP00000340554.6:p.Lys16856Ter
ENST00000342992.10:c.69481A>T (TTN) ENSP00000343764.6:p.Lys23161Ter
ENST00000342992.11:c.69481A>T (TTN) ENSP00000343764.6:p.Lys23161Ter
ENST00000359218.10:c.50365A>T (TTN) ENSP00000352154.5:p.Lys16789Ter
ENST00000359218.9:c.50365A>T (TTN) ENSP00000352154.5:p.Lys16789Ter
ENST00000460472.6:c.49990A>T (TTN) ENSP00000434586.1:p.Lys16664Ter
ENST00000591111.5:c.72262A>T (TTN) ENSP00000465570.1:p.Lys24088Ter
ENST00000615779.4:c.72262A>T (TTN) ENSP00000483597.1:p.Lys24088Ter
XM_011511729.1:c.76282A>T (TTN) XP_011510031.1:p.Lys25428Ter
XM_011511730.1:c.50176A>T (TTN) XP_011510032.1:p.Lys16726Ter
XM_011511731.1:c.50035A>T (TTN) XP_011510033.1:p.Lys16679Ter
XM_017004819.1:c.76078A>T (TTN) XP_016860308.1:p.Lys25360Ter
XM_017004820.1:c.71476A>T (TTN) XP_016860309.1:p.Lys23826Ter
XM_017004821.1:c.71473A>T (TTN) XP_016860310.1:p.Lys23825Ter
XM_017004822.1:c.68515A>T (TTN) XP_016860311.1:p.Lys22839Ter
XM_017004823.1:c.50131A>T (TTN) XP_016860312.1:p.Lys16711Ter
XM_024453094.1:c.71626A>T (TTN) XP_024308862.1:p.Lys23876Ter
XM_024453095.1:c.71623A>T (TTN) XP_024308863.1:p.Lys23875Ter
XM_024453096.1:c.71056A>T (TTN) XP_024308864.1:p.Lys23686Ter
XM_024453097.1:c.68398A>T (TTN) XP_024308865.1:p.Lys22800Ter
XM_024453098.1:c.68317A>T (TTN) XP_024308866.1:p.Lys22773Ter
XM_024453099.1:c.50080A>T (TTN) XP_024308867.1:p.Lys16694Ter
XM_024453100.1:c.39934A>T (TTN) XP_024308868.1:p.Lys13312Ter