Canonical Allele Identifier: CA349487578
Community Standard Title: NM_001267550.2(TTN):c.60049C>T (p.Gln20017Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591770G>A , CM000664.2:g.178591770G>A GRCh38
NC_000002.11:g.179456497G>A , CM000664.1:g.179456497G>A GRCh37
NC_000002.10:g.179164743G>A NCBI36
NG_011618.3:g.244033C>T , LRG_391:g.244033C>T
NG_051363.1:g.73944G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.60049C>T (TTN) MANE Select NP_001254479.2:p.Gln20017Ter
ENST00000589042.5:c.60049C>T (TTN) MANE Select ENSP00000467141.1:p.Gln20017Ter
NM_001256850.1:c.55126C>T (TTN) NP_001243779.1:p.Gln18376Ter
NM_003319.4:c.32854C>T (TTN) NP_003310.4:p.Gln10952Ter
NM_133378.4:c.52345C>T (TTN) NP_596869.4:p.Gln17449Ter
NM_133432.3:c.33229C>T (TTN) NP_597676.3:p.Gln11077Ter
NM_133437.4:c.33430C>T (TTN) NP_597681.4:p.Gln11144Ter
NR_038271.1:n.597-5826G>A (TTN-AS1)
NR_038272.1:n.3364+456G>A (TTN-AS1)
ENST00000342175.10:c.33430C>T (TTN) ENSP00000340554.6:p.Gln11144Ter
ENST00000342175.11:c.33430C>T (TTN) ENSP00000340554.6:p.Gln11144Ter
ENST00000342992.10:c.52345C>T (TTN) ENSP00000343764.6:p.Gln17449Ter
ENST00000342992.11:c.52345C>T (TTN) ENSP00000343764.6:p.Gln17449Ter
ENST00000359218.10:c.33229C>T (TTN) ENSP00000352154.5:p.Gln11077Ter
ENST00000359218.9:c.33229C>T (TTN) ENSP00000352154.5:p.Gln11077Ter
ENST00000460472.6:c.32854C>T (TTN) ENSP00000434586.1:p.Gln10952Ter
ENST00000591111.5:c.55126C>T (TTN) ENSP00000465570.1:p.Gln18376Ter
ENST00000615779.4:c.55126C>T (TTN) ENSP00000483597.1:p.Gln18376Ter
XM_011511729.1:c.59146C>T (TTN) XP_011510031.1:p.Gln19716Ter
XM_011511730.1:c.33040C>T (TTN) XP_011510032.1:p.Gln11014Ter
XM_011511731.1:c.32899C>T (TTN) XP_011510033.1:p.Gln10967Ter
XM_017004819.1:c.58942C>T (TTN) XP_016860308.1:p.Gln19648Ter
XM_017004820.1:c.54340C>T (TTN) XP_016860309.1:p.Gln18114Ter
XM_017004821.1:c.54337C>T (TTN) XP_016860310.1:p.Gln18113Ter
XM_017004822.1:c.51379C>T (TTN) XP_016860311.1:p.Gln17127Ter
XM_017004823.1:c.32995C>T (TTN) XP_016860312.1:p.Gln10999Ter
XM_024453094.1:c.54490C>T (TTN) XP_024308862.1:p.Gln18164Ter
XM_024453095.1:c.54487C>T (TTN) XP_024308863.1:p.Gln18163Ter
XM_024453096.1:c.53920C>T (TTN) XP_024308864.1:p.Gln17974Ter
XM_024453097.1:c.51262C>T (TTN) XP_024308865.1:p.Gln17088Ter
XM_024453098.1:c.51181C>T (TTN) XP_024308866.1:p.Gln17061Ter
XM_024453099.1:c.32944C>T (TTN) XP_024308867.1:p.Gln10982Ter
XM_024453100.1:c.22798C>T (TTN) XP_024308868.1:p.Gln7600Ter