Canonical Allele Identifier: CA349464896
Community Standard Title: NM_001267550.2(TTN):c.62409G>A (p.Trp20803Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178589316C>T , CM000664.2:g.178589316C>T GRCh38
NC_000002.11:g.179454043C>T , CM000664.1:g.179454043C>T GRCh37
NC_000002.10:g.179162289C>T NCBI36
NG_011618.3:g.246487G>A , LRG_391:g.246487G>A
NG_051363.1:g.71490C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.62409G>A (TTN) MANE Select NP_001254479.2:p.Trp20803Ter
ENST00000589042.5:c.62409G>A (TTN) MANE Select ENSP00000467141.1:p.Trp20803Ter
NM_001256850.1:c.57486G>A (TTN) NP_001243779.1:p.Trp19162Ter
NM_003319.4:c.35214G>A (TTN) NP_003310.4:p.Trp11738Ter
NM_133378.4:c.54705G>A (TTN) NP_596869.4:p.Trp18235Ter
NM_133432.3:c.35589G>A (TTN) NP_597676.3:p.Trp11863Ter
NM_133437.4:c.35790G>A (TTN) NP_597681.4:p.Trp11930Ter
NR_038271.1:n.597-8280C>T (TTN-AS1)
NR_038272.1:n.3189-1823C>T (TTN-AS1)
ENST00000342175.10:c.35790G>A (TTN) ENSP00000340554.6:p.Trp11930Ter
ENST00000342175.11:c.35790G>A (TTN) ENSP00000340554.6:p.Trp11930Ter
ENST00000342992.10:c.54705G>A (TTN) ENSP00000343764.6:p.Trp18235Ter
ENST00000342992.11:c.54705G>A (TTN) ENSP00000343764.6:p.Trp18235Ter
ENST00000359218.10:c.35589G>A (TTN) ENSP00000352154.5:p.Trp11863Ter
ENST00000359218.9:c.35589G>A (TTN) ENSP00000352154.5:p.Trp11863Ter
ENST00000460472.6:c.35214G>A (TTN) ENSP00000434586.1:p.Trp11738Ter
ENST00000591111.5:c.57486G>A (TTN) ENSP00000465570.1:p.Trp19162Ter
ENST00000615779.4:c.57486G>A (TTN) ENSP00000483597.1:p.Trp19162Ter
XM_011511729.1:c.61506G>A (TTN) XP_011510031.1:p.Trp20502Ter
XM_011511730.1:c.35400G>A (TTN) XP_011510032.1:p.Trp11800Ter
XM_011511731.1:c.35259G>A (TTN) XP_011510033.1:p.Trp11753Ter
XM_017004819.1:c.61302G>A (TTN) XP_016860308.1:p.Trp20434Ter
XM_017004820.1:c.56700G>A (TTN) XP_016860309.1:p.Trp18900Ter
XM_017004821.1:c.56697G>A (TTN) XP_016860310.1:p.Trp18899Ter
XM_017004822.1:c.53739G>A (TTN) XP_016860311.1:p.Trp17913Ter
XM_017004823.1:c.35355G>A (TTN) XP_016860312.1:p.Trp11785Ter
XM_024453094.1:c.56850G>A (TTN) XP_024308862.1:p.Trp18950Ter
XM_024453095.1:c.56847G>A (TTN) XP_024308863.1:p.Trp18949Ter
XM_024453096.1:c.56280G>A (TTN) XP_024308864.1:p.Trp18760Ter
XM_024453097.1:c.53622G>A (TTN) XP_024308865.1:p.Trp17874Ter
XM_024453098.1:c.53541G>A (TTN) XP_024308866.1:p.Trp17847Ter
XM_024453099.1:c.35304G>A (TTN) XP_024308867.1:p.Trp11768Ter
XM_024453100.1:c.25158G>A (TTN) XP_024308868.1:p.Trp8386Ter