Canonical Allele Identifier: CA349595878
Community Standard Title: NM_001267550.2(TTN):c.50467C>T (p.Gln16823Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178611842G>A , CM000664.2:g.178611842G>A GRCh38
NC_000002.11:g.179476569G>A , CM000664.1:g.179476569G>A GRCh37
NC_000002.10:g.179184814G>A NCBI36
NG_011618.3:g.223961C>T , LRG_391:g.223961C>T
NG_051363.1:g.94016G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.50467C>T (TTN) MANE Select NP_001254479.2:p.Gln16823Ter
ENST00000589042.5:c.50467C>T (TTN) MANE Select ENSP00000467141.1:p.Gln16823Ter
NM_001256850.1:c.45544C>T (TTN) NP_001243779.1:p.Gln15182Ter
NM_003319.4:c.23272C>T (TTN) NP_003310.4:p.Gln7758Ter
NM_133378.4:c.42763C>T (TTN) NP_596869.4:p.Gln14255Ter
NM_133432.3:c.23647C>T (TTN) NP_597676.3:p.Gln7883Ter
NM_133437.4:c.23848C>T (TTN) NP_597681.4:p.Gln7950Ter
NR_038271.1:n.783-2193G>A (TTN-AS1)
ENST00000342175.10:c.23848C>T (TTN) ENSP00000340554.6:p.Gln7950Ter
ENST00000342175.11:c.23848C>T (TTN) ENSP00000340554.6:p.Gln7950Ter
ENST00000342992.10:c.42763C>T (TTN) ENSP00000343764.6:p.Gln14255Ter
ENST00000342992.11:c.42763C>T (TTN) ENSP00000343764.6:p.Gln14255Ter
ENST00000359218.10:c.23647C>T (TTN) ENSP00000352154.5:p.Gln7883Ter
ENST00000359218.9:c.23647C>T (TTN) ENSP00000352154.5:p.Gln7883Ter
ENST00000460472.6:c.23272C>T (TTN) ENSP00000434586.1:p.Gln7758Ter
ENST00000591111.5:c.45544C>T (TTN) ENSP00000465570.1:p.Gln15182Ter
ENST00000615779.4:c.45544C>T (TTN) ENSP00000483597.1:p.Gln15182Ter
XM_011511729.1:c.49564C>T (TTN) XP_011510031.1:p.Gln16522Ter
XM_011511730.1:c.23458C>T (TTN) XP_011510032.1:p.Gln7820Ter
XM_011511731.1:c.23317C>T (TTN) XP_011510033.1:p.Gln7773Ter
XM_017004819.1:c.49360C>T (TTN) XP_016860308.1:p.Gln16454Ter
XM_017004820.1:c.44758C>T (TTN) XP_016860309.1:p.Gln14920Ter
XM_017004821.1:c.44755C>T (TTN) XP_016860310.1:p.Gln14919Ter
XM_017004822.1:c.41797C>T (TTN) XP_016860311.1:p.Gln13933Ter
XM_017004823.1:c.23413C>T (TTN) XP_016860312.1:p.Gln7805Ter
XM_024453094.1:c.44908C>T (TTN) XP_024308862.1:p.Gln14970Ter
XM_024453095.1:c.44905C>T (TTN) XP_024308863.1:p.Gln14969Ter
XM_024453096.1:c.44338C>T (TTN) XP_024308864.1:p.Gln14780Ter
XM_024453097.1:c.41680C>T (TTN) XP_024308865.1:p.Gln13894Ter
XM_024453098.1:c.41599C>T (TTN) XP_024308866.1:p.Gln13867Ter
XM_024453099.1:c.23362C>T (TTN) XP_024308867.1:p.Gln7788Ter
XM_024453100.1:c.13216C>T (TTN) XP_024308868.1:p.Gln4406Ter