Canonical Allele Identifier: CA349527206
Community Standard Title: NM_001267550.2(TTN):c.56759G>A (p.Trp18920Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178598951C>T , CM000664.2:g.178598951C>T GRCh38
NC_000002.11:g.179463678C>T , CM000664.1:g.179463678C>T GRCh37
NC_000002.10:g.179171923C>T NCBI36
NG_011618.3:g.236852G>A , LRG_391:g.236852G>A
NG_051363.1:g.81125C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.56759G>A (TTN) MANE Select NP_001254479.2:p.Trp18920Ter
ENST00000589042.5:c.56759G>A (TTN) MANE Select ENSP00000467141.1:p.Trp18920Ter
NM_001256850.1:c.51836G>A (TTN) NP_001243779.1:p.Trp17279Ter
NM_003319.4:c.29564G>A (TTN) NP_003310.4:p.Trp9855Ter
NM_133378.4:c.49055G>A (TTN) NP_596869.4:p.Trp16352Ter
NM_133432.3:c.29939G>A (TTN) NP_597676.3:p.Trp9980Ter
NM_133437.4:c.30140G>A (TTN) NP_597681.4:p.Trp10047Ter
NR_038271.1:n.682+1270C>T (TTN-AS1)
NR_038272.1:n.3568+278C>T (TTN-AS1)
ENST00000342175.10:c.30140G>A (TTN) ENSP00000340554.6:p.Trp10047Ter
ENST00000342175.11:c.30140G>A (TTN) ENSP00000340554.6:p.Trp10047Ter
ENST00000342992.10:c.49055G>A (TTN) ENSP00000343764.6:p.Trp16352Ter
ENST00000342992.11:c.49055G>A (TTN) ENSP00000343764.6:p.Trp16352Ter
ENST00000359218.10:c.29939G>A (TTN) ENSP00000352154.5:p.Trp9980Ter
ENST00000359218.9:c.29939G>A (TTN) ENSP00000352154.5:p.Trp9980Ter
ENST00000460472.6:c.29564G>A (TTN) ENSP00000434586.1:p.Trp9855Ter
ENST00000591111.5:c.51836G>A (TTN) ENSP00000465570.1:p.Trp17279Ter
ENST00000615779.4:c.51836G>A (TTN) ENSP00000483597.1:p.Trp17279Ter
XM_011511729.1:c.55856G>A (TTN) XP_011510031.1:p.Trp18619Ter
XM_011511730.1:c.29750G>A (TTN) XP_011510032.1:p.Trp9917Ter
XM_011511731.1:c.29609G>A (TTN) XP_011510033.1:p.Trp9870Ter
XM_017004819.1:c.55652G>A (TTN) XP_016860308.1:p.Trp18551Ter
XM_017004820.1:c.51050G>A (TTN) XP_016860309.1:p.Trp17017Ter
XM_017004821.1:c.51047G>A (TTN) XP_016860310.1:p.Trp17016Ter
XM_017004822.1:c.48089G>A (TTN) XP_016860311.1:p.Trp16030Ter
XM_017004823.1:c.29705G>A (TTN) XP_016860312.1:p.Trp9902Ter
XM_024453094.1:c.51200G>A (TTN) XP_024308862.1:p.Trp17067Ter
XM_024453095.1:c.51197G>A (TTN) XP_024308863.1:p.Trp17066Ter
XM_024453096.1:c.50630G>A (TTN) XP_024308864.1:p.Trp16877Ter
XM_024453097.1:c.47972G>A (TTN) XP_024308865.1:p.Trp15991Ter
XM_024453098.1:c.47891G>A (TTN) XP_024308866.1:p.Trp15964Ter
XM_024453099.1:c.29654G>A (TTN) XP_024308867.1:p.Trp9885Ter
XM_024453100.1:c.19508G>A (TTN) XP_024308868.1:p.Trp6503Ter