Canonical Allele Identifier: CA353344
Community Standard Title: NM_001267550.2(TTN):c.49458G>A (p.Trp16486Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178613825C>T , CM000664.2:g.178613825C>T GRCh38
NC_000002.11:g.179478552C>T , CM000664.1:g.179478552C>T GRCh37
NC_000002.10:g.179186797C>T NCBI36
NG_011618.3:g.221978G>A , LRG_391:g.221978G>A
NG_051363.1:g.95999C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.49458G>A (TTN) MANE Select NP_001254479.2:p.Trp16486Ter
ENST00000589042.5:c.49458G>A (TTN) MANE Select ENSP00000467141.1:p.Trp16486Ter
NM_001256850.1:c.44535G>A (TTN) NP_001243779.1:p.Trp14845Ter
NM_003319.4:c.22263G>A (TTN) NP_003310.4:p.Trp7421Ter
NM_133378.4:c.41754G>A (TTN) NP_596869.4:p.Trp13918Ter
NM_133432.3:c.22638G>A (TTN) NP_597676.3:p.Trp7546Ter
NM_133437.4:c.22839G>A (TTN) NP_597681.4:p.Trp7613Ter
NR_038271.1:n.783-210C>T (TTN-AS1)
ENST00000342175.10:c.22839G>A (TTN) ENSP00000340554.6:p.Trp7613Ter
ENST00000342175.11:c.22839G>A (TTN) ENSP00000340554.6:p.Trp7613Ter
ENST00000342992.10:c.41754G>A (TTN) ENSP00000343764.6:p.Trp13918Ter
ENST00000342992.11:c.41754G>A (TTN) ENSP00000343764.6:p.Trp13918Ter
ENST00000359218.10:c.22638G>A (TTN) ENSP00000352154.5:p.Trp7546Ter
ENST00000359218.9:c.22638G>A (TTN) ENSP00000352154.5:p.Trp7546Ter
ENST00000460472.6:c.22263G>A (TTN) ENSP00000434586.1:p.Trp7421Ter
ENST00000591111.5:c.44535G>A (TTN) ENSP00000465570.1:p.Trp14845Ter
ENST00000615779.4:c.44535G>A (TTN) ENSP00000483597.1:p.Trp14845Ter
XM_011511729.1:c.48555G>A (TTN) XP_011510031.1:p.Trp16185Ter
XM_011511730.1:c.22449G>A (TTN) XP_011510032.1:p.Trp7483Ter
XM_011511731.1:c.22308G>A (TTN) XP_011510033.1:p.Trp7436Ter
XM_017004819.1:c.48351G>A (TTN) XP_016860308.1:p.Trp16117Ter
XM_017004820.1:c.43749G>A (TTN) XP_016860309.1:p.Trp14583Ter
XM_017004821.1:c.43746G>A (TTN) XP_016860310.1:p.Trp14582Ter
XM_017004822.1:c.40788G>A (TTN) XP_016860311.1:p.Trp13596Ter
XM_017004823.1:c.22404G>A (TTN) XP_016860312.1:p.Trp7468Ter
XM_024453094.1:c.43899G>A (TTN) XP_024308862.1:p.Trp14633Ter
XM_024453095.1:c.43896G>A (TTN) XP_024308863.1:p.Trp14632Ter
XM_024453096.1:c.43329G>A (TTN) XP_024308864.1:p.Trp14443Ter
XM_024453097.1:c.40671G>A (TTN) XP_024308865.1:p.Trp13557Ter
XM_024453098.1:c.40590G>A (TTN) XP_024308866.1:p.Trp13530Ter
XM_024453099.1:c.22353G>A (TTN) XP_024308867.1:p.Trp7451Ter
XM_024453100.1:c.12207G>A (TTN) XP_024308868.1:p.Trp4069Ter