Canonical Allele Identifier: CA349598302
Community Standard Title: NM_001267550.2(TTN):c.79273A>T (p.Lys26425Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178566859T>A , CM000664.2:g.178566859T>A GRCh38
NC_000002.11:g.179431586T>A , CM000664.1:g.179431586T>A GRCh37
NC_000002.10:g.179139832T>A NCBI36
NG_011618.3:g.268944A>T , LRG_391:g.268944A>T
NG_051363.1:g.49033T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.79273A>T (TTN) MANE Select NP_001254479.2:p.Lys26425Ter
ENST00000589042.5:c.79273A>T (TTN) MANE Select ENSP00000467141.1:p.Lys26425Ter
NM_001256850.1:c.74350A>T (TTN) NP_001243779.1:p.Lys24784Ter
NM_003319.4:c.52078A>T (TTN) NP_003310.4:p.Lys17360Ter
NM_133378.4:c.71569A>T (TTN) NP_596869.4:p.Lys23857Ter
NM_133432.3:c.52453A>T (TTN) NP_597676.3:p.Lys17485Ter
NM_133437.4:c.52654A>T (TTN) NP_597681.4:p.Lys17552Ter
NR_038271.1:n.447-4441T>A (TTN-AS1)
NR_038272.1:n.2044-15713T>A (TTN-AS1)
ENST00000342175.10:c.52654A>T (TTN) ENSP00000340554.6:p.Lys17552Ter
ENST00000342175.11:c.52654A>T (TTN) ENSP00000340554.6:p.Lys17552Ter
ENST00000342992.10:c.71569A>T (TTN) ENSP00000343764.6:p.Lys23857Ter
ENST00000342992.11:c.71569A>T (TTN) ENSP00000343764.6:p.Lys23857Ter
ENST00000359218.10:c.52453A>T (TTN) ENSP00000352154.5:p.Lys17485Ter
ENST00000359218.9:c.52453A>T (TTN) ENSP00000352154.5:p.Lys17485Ter
ENST00000460472.6:c.52078A>T (TTN) ENSP00000434586.1:p.Lys17360Ter
ENST00000591111.5:c.74350A>T (TTN) ENSP00000465570.1:p.Lys24784Ter
ENST00000615779.4:c.74350A>T (TTN) ENSP00000483597.1:p.Lys24784Ter
XM_011511729.1:c.78370A>T (TTN) XP_011510031.1:p.Lys26124Ter
XM_011511730.1:c.52264A>T (TTN) XP_011510032.1:p.Lys17422Ter
XM_011511731.1:c.52123A>T (TTN) XP_011510033.1:p.Lys17375Ter
XM_017004819.1:c.78166A>T (TTN) XP_016860308.1:p.Lys26056Ter
XM_017004820.1:c.73564A>T (TTN) XP_016860309.1:p.Lys24522Ter
XM_017004821.1:c.73561A>T (TTN) XP_016860310.1:p.Lys24521Ter
XM_017004822.1:c.70603A>T (TTN) XP_016860311.1:p.Lys23535Ter
XM_017004823.1:c.52219A>T (TTN) XP_016860312.1:p.Lys17407Ter
XM_024453094.1:c.73714A>T (TTN) XP_024308862.1:p.Lys24572Ter
XM_024453095.1:c.73711A>T (TTN) XP_024308863.1:p.Lys24571Ter
XM_024453096.1:c.73144A>T (TTN) XP_024308864.1:p.Lys24382Ter
XM_024453097.1:c.70486A>T (TTN) XP_024308865.1:p.Lys23496Ter
XM_024453098.1:c.70405A>T (TTN) XP_024308866.1:p.Lys23469Ter
XM_024453099.1:c.52168A>T (TTN) XP_024308867.1:p.Lys17390Ter
XM_024453100.1:c.42022A>T (TTN) XP_024308868.1:p.Lys14008Ter