Canonical Allele Identifier: CA349429589
Community Standard Title: NM_001267550.2(TTN):c.66228G>A (p.Trp22076Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178582141C>T , CM000664.2:g.178582141C>T GRCh38
NC_000002.11:g.179446868C>T , CM000664.1:g.179446868C>T GRCh37
NC_000002.10:g.179155114C>T NCBI36
NG_011618.3:g.253662G>A , LRG_391:g.253662G>A
NG_051363.1:g.64315C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.66228G>A (TTN) MANE Select NP_001254479.2:p.Trp22076Ter
ENST00000589042.5:c.66228G>A (TTN) MANE Select ENSP00000467141.1:p.Trp22076Ter
NM_001256850.1:c.61305G>A (TTN) NP_001243779.1:p.Trp20435Ter
NM_003319.4:c.39033G>A (TTN) NP_003310.4:p.Trp13011Ter
NM_133378.4:c.58524G>A (TTN) NP_596869.4:p.Trp19508Ter
NM_133432.3:c.39408G>A (TTN) NP_597676.3:p.Trp13136Ter
NM_133437.4:c.39609G>A (TTN) NP_597681.4:p.Trp13203Ter
NR_038271.1:n.596+10692C>T (TTN-AS1)
NR_038272.1:n.2044-431C>T (TTN-AS1)
ENST00000342175.10:c.39609G>A (TTN) ENSP00000340554.6:p.Trp13203Ter
ENST00000342175.11:c.39609G>A (TTN) ENSP00000340554.6:p.Trp13203Ter
ENST00000342992.10:c.58524G>A (TTN) ENSP00000343764.6:p.Trp19508Ter
ENST00000342992.11:c.58524G>A (TTN) ENSP00000343764.6:p.Trp19508Ter
ENST00000359218.10:c.39408G>A (TTN) ENSP00000352154.5:p.Trp13136Ter
ENST00000359218.9:c.39408G>A (TTN) ENSP00000352154.5:p.Trp13136Ter
ENST00000460472.6:c.39033G>A (TTN) ENSP00000434586.1:p.Trp13011Ter
ENST00000591111.5:c.61305G>A (TTN) ENSP00000465570.1:p.Trp20435Ter
ENST00000615779.4:c.61305G>A (TTN) ENSP00000483597.1:p.Trp20435Ter
XM_011511729.1:c.65325G>A (TTN) XP_011510031.1:p.Trp21775Ter
XM_011511730.1:c.39219G>A (TTN) XP_011510032.1:p.Trp13073Ter
XM_011511731.1:c.39078G>A (TTN) XP_011510033.1:p.Trp13026Ter
XM_017004819.1:c.65121G>A (TTN) XP_016860308.1:p.Trp21707Ter
XM_017004820.1:c.60519G>A (TTN) XP_016860309.1:p.Trp20173Ter
XM_017004821.1:c.60516G>A (TTN) XP_016860310.1:p.Trp20172Ter
XM_017004822.1:c.57558G>A (TTN) XP_016860311.1:p.Trp19186Ter
XM_017004823.1:c.39174G>A (TTN) XP_016860312.1:p.Trp13058Ter
XM_024453094.1:c.60669G>A (TTN) XP_024308862.1:p.Trp20223Ter
XM_024453095.1:c.60666G>A (TTN) XP_024308863.1:p.Trp20222Ter
XM_024453096.1:c.60099G>A (TTN) XP_024308864.1:p.Trp20033Ter
XM_024453097.1:c.57441G>A (TTN) XP_024308865.1:p.Trp19147Ter
XM_024453098.1:c.57360G>A (TTN) XP_024308866.1:p.Trp19120Ter
XM_024453099.1:c.39123G>A (TTN) XP_024308867.1:p.Trp13041Ter
XM_024453100.1:c.28977G>A (TTN) XP_024308868.1:p.Trp9659Ter