Canonical Allele Identifier: CA349591486
Community Standard Title: NM_001267550.2(TTN):c.50859C>A (p.Cys16953Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178611270G>T , CM000664.2:g.178611270G>T GRCh38
NC_000002.11:g.179475997G>T , CM000664.1:g.179475997G>T GRCh37
NC_000002.10:g.179184242G>T NCBI36
NG_011618.3:g.224533C>A , LRG_391:g.224533C>A
NG_051363.1:g.93444G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.50859C>A (TTN) MANE Select NP_001254479.2:p.Cys16953Ter
ENST00000589042.5:c.50859C>A (TTN) MANE Select ENSP00000467141.1:p.Cys16953Ter
NM_001256850.1:c.45936C>A (TTN) NP_001243779.1:p.Cys15312Ter
NM_003319.4:c.23664C>A (TTN) NP_003310.4:p.Cys7888Ter
NM_133378.4:c.43155C>A (TTN) NP_596869.4:p.Cys14385Ter
NM_133432.3:c.24039C>A (TTN) NP_597676.3:p.Cys8013Ter
NM_133437.4:c.24240C>A (TTN) NP_597681.4:p.Cys8080Ter
NR_038271.1:n.783-2765G>T (TTN-AS1)
ENST00000342175.10:c.24240C>A (TTN) ENSP00000340554.6:p.Cys8080Ter
ENST00000342175.11:c.24240C>A (TTN) ENSP00000340554.6:p.Cys8080Ter
ENST00000342992.10:c.43155C>A (TTN) ENSP00000343764.6:p.Cys14385Ter
ENST00000342992.11:c.43155C>A (TTN) ENSP00000343764.6:p.Cys14385Ter
ENST00000359218.10:c.24039C>A (TTN) ENSP00000352154.5:p.Cys8013Ter
ENST00000359218.9:c.24039C>A (TTN) ENSP00000352154.5:p.Cys8013Ter
ENST00000460472.6:c.23664C>A (TTN) ENSP00000434586.1:p.Cys7888Ter
ENST00000591111.5:c.45936C>A (TTN) ENSP00000465570.1:p.Cys15312Ter
ENST00000615779.4:c.45936C>A (TTN) ENSP00000483597.1:p.Cys15312Ter
XM_011511729.1:c.49956C>A (TTN) XP_011510031.1:p.Cys16652Ter
XM_011511730.1:c.23850C>A (TTN) XP_011510032.1:p.Cys7950Ter
XM_011511731.1:c.23709C>A (TTN) XP_011510033.1:p.Cys7903Ter
XM_017004819.1:c.49752C>A (TTN) XP_016860308.1:p.Cys16584Ter
XM_017004820.1:c.45150C>A (TTN) XP_016860309.1:p.Cys15050Ter
XM_017004821.1:c.45147C>A (TTN) XP_016860310.1:p.Cys15049Ter
XM_017004822.1:c.42189C>A (TTN) XP_016860311.1:p.Cys14063Ter
XM_017004823.1:c.23805C>A (TTN) XP_016860312.1:p.Cys7935Ter
XM_024453094.1:c.45300C>A (TTN) XP_024308862.1:p.Cys15100Ter
XM_024453095.1:c.45297C>A (TTN) XP_024308863.1:p.Cys15099Ter
XM_024453096.1:c.44730C>A (TTN) XP_024308864.1:p.Cys14910Ter
XM_024453097.1:c.42072C>A (TTN) XP_024308865.1:p.Cys14024Ter
XM_024453098.1:c.41991C>A (TTN) XP_024308866.1:p.Cys13997Ter
XM_024453099.1:c.23754C>A (TTN) XP_024308867.1:p.Cys7918Ter
XM_024453100.1:c.13608C>A (TTN) XP_024308868.1:p.Cys4536Ter