Canonical Allele Identifier: CA349613017
Community Standard Title: NM_001267550.2(TTN):c.76990C>T (p.Gln25664Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569142G>A , CM000664.2:g.178569142G>A GRCh38
NC_000002.11:g.179433869G>A , CM000664.1:g.179433869G>A GRCh37
NC_000002.10:g.179142115G>A NCBI36
NG_011618.3:g.266661C>T , LRG_391:g.266661C>T
NG_051363.1:g.51316G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.76990C>T (TTN) MANE Select NP_001254479.2:p.Gln25664Ter
ENST00000589042.5:c.76990C>T (TTN) MANE Select ENSP00000467141.1:p.Gln25664Ter
NM_001256850.1:c.72067C>T (TTN) NP_001243779.1:p.Gln24023Ter
NM_003319.4:c.49795C>T (TTN) NP_003310.4:p.Gln16599Ter
NM_133378.4:c.69286C>T (TTN) NP_596869.4:p.Gln23096Ter
NM_133432.3:c.50170C>T (TTN) NP_597676.3:p.Gln16724Ter
NM_133437.4:c.50371C>T (TTN) NP_597681.4:p.Gln16791Ter
NR_038271.1:n.447-2158G>A (TTN-AS1)
NR_038272.1:n.2044-13430G>A (TTN-AS1)
ENST00000342175.10:c.50371C>T (TTN) ENSP00000340554.6:p.Gln16791Ter
ENST00000342175.11:c.50371C>T (TTN) ENSP00000340554.6:p.Gln16791Ter
ENST00000342992.10:c.69286C>T (TTN) ENSP00000343764.6:p.Gln23096Ter
ENST00000342992.11:c.69286C>T (TTN) ENSP00000343764.6:p.Gln23096Ter
ENST00000359218.10:c.50170C>T (TTN) ENSP00000352154.5:p.Gln16724Ter
ENST00000359218.9:c.50170C>T (TTN) ENSP00000352154.5:p.Gln16724Ter
ENST00000460472.6:c.49795C>T (TTN) ENSP00000434586.1:p.Gln16599Ter
ENST00000591111.5:c.72067C>T (TTN) ENSP00000465570.1:p.Gln24023Ter
ENST00000615779.4:c.72067C>T (TTN) ENSP00000483597.1:p.Gln24023Ter
XM_011511729.1:c.76087C>T (TTN) XP_011510031.1:p.Gln25363Ter
XM_011511730.1:c.49981C>T (TTN) XP_011510032.1:p.Gln16661Ter
XM_011511731.1:c.49840C>T (TTN) XP_011510033.1:p.Gln16614Ter
XM_017004819.1:c.75883C>T (TTN) XP_016860308.1:p.Gln25295Ter
XM_017004820.1:c.71281C>T (TTN) XP_016860309.1:p.Gln23761Ter
XM_017004821.1:c.71278C>T (TTN) XP_016860310.1:p.Gln23760Ter
XM_017004822.1:c.68320C>T (TTN) XP_016860311.1:p.Gln22774Ter
XM_017004823.1:c.49936C>T (TTN) XP_016860312.1:p.Gln16646Ter
XM_024453094.1:c.71431C>T (TTN) XP_024308862.1:p.Gln23811Ter
XM_024453095.1:c.71428C>T (TTN) XP_024308863.1:p.Gln23810Ter
XM_024453096.1:c.70861C>T (TTN) XP_024308864.1:p.Gln23621Ter
XM_024453097.1:c.68203C>T (TTN) XP_024308865.1:p.Gln22735Ter
XM_024453098.1:c.68122C>T (TTN) XP_024308866.1:p.Gln22708Ter
XM_024453099.1:c.49885C>T (TTN) XP_024308867.1:p.Gln16629Ter
XM_024453100.1:c.39739C>T (TTN) XP_024308868.1:p.Gln13247Ter