Canonical Allele Identifier: CA1993651
Community Standard Title: NM_001267550.2(TTN):c.54348A>T (p.Glu18116Asp)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178604741T>A , CM000664.2:g.178604741T>A GRCh38
NC_000002.11:g.179469468T>A , CM000664.1:g.179469468T>A GRCh37
NC_000002.10:g.179177713T>A NCBI36
NG_011618.3:g.231062A>T , LRG_391:g.231062A>T
NG_051363.1:g.86915T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.54348A>T (TTN) MANE Select NP_001254479.2:p.Glu18116Asp
ENST00000589042.5:c.54348A>T (TTN) MANE Select ENSP00000467141.1:p.Glu18116Asp
NM_001256850.1:c.49425A>T (TTN) NP_001243779.1:p.Glu16475Asp
NM_003319.4:c.27153A>T (TTN) NP_003310.4:p.Glu9051Asp
NM_133378.4:c.46644A>T (TTN) NP_596869.4:p.Glu15548Asp
NM_133432.3:c.27528A>T (TTN) NP_597676.3:p.Glu9176Asp
NM_133437.4:c.27729A>T (TTN) NP_597681.4:p.Glu9243Asp
NR_038271.1:n.683-3426T>A (TTN-AS1)
NR_038272.1:n.3928T>A (TTN-AS1)
ENST00000342175.10:c.27729A>T (TTN) ENSP00000340554.6:p.Glu9243Asp
ENST00000342175.11:c.27729A>T (TTN) ENSP00000340554.6:p.Glu9243Asp
ENST00000342992.10:c.46644A>T (TTN) ENSP00000343764.6:p.Glu15548Asp
ENST00000342992.11:c.46644A>T (TTN) ENSP00000343764.6:p.Glu15548Asp
ENST00000359218.10:c.27528A>T (TTN) ENSP00000352154.5:p.Glu9176Asp
ENST00000359218.9:c.27528A>T (TTN) ENSP00000352154.5:p.Glu9176Asp
ENST00000460472.6:c.27153A>T (TTN) ENSP00000434586.1:p.Glu9051Asp
ENST00000591111.5:c.49425A>T (TTN) ENSP00000465570.1:p.Glu16475Asp
ENST00000615779.4:c.49425A>T (TTN) ENSP00000483597.1:p.Glu16475Asp
XM_011511729.1:c.53445A>T (TTN) XP_011510031.1:p.Glu17815Asp
XM_011511730.1:c.27339A>T (TTN) XP_011510032.1:p.Glu9113Asp
XM_011511731.1:c.27198A>T (TTN) XP_011510033.1:p.Glu9066Asp
XM_017004819.1:c.53241A>T (TTN) XP_016860308.1:p.Glu17747Asp
XM_017004820.1:c.48639A>T (TTN) XP_016860309.1:p.Glu16213Asp
XM_017004821.1:c.48636A>T (TTN) XP_016860310.1:p.Glu16212Asp
XM_017004822.1:c.45678A>T (TTN) XP_016860311.1:p.Glu15226Asp
XM_017004823.1:c.27294A>T (TTN) XP_016860312.1:p.Glu9098Asp
XM_024453094.1:c.48789A>T (TTN) XP_024308862.1:p.Glu16263Asp
XM_024453095.1:c.48786A>T (TTN) XP_024308863.1:p.Glu16262Asp
XM_024453096.1:c.48219A>T (TTN) XP_024308864.1:p.Glu16073Asp
XM_024453097.1:c.45561A>T (TTN) XP_024308865.1:p.Glu15187Asp
XM_024453098.1:c.45480A>T (TTN) XP_024308866.1:p.Glu15160Asp
XM_024453099.1:c.27243A>T (TTN) XP_024308867.1:p.Glu9081Asp
XM_024453100.1:c.17097A>T (TTN) XP_024308868.1:p.Glu5699Asp