Canonical Allele Identifier: CA349636371
Community Standard Title: NM_001267550.2(TTN):c.73911G>A (p.Trp24637Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178572221C>T , CM000664.2:g.178572221C>T GRCh38
NC_000002.11:g.179436948C>T , CM000664.1:g.179436948C>T GRCh37
NC_000002.10:g.179145194C>T NCBI36
NG_011618.3:g.263582G>A , LRG_391:g.263582G>A
NG_051363.1:g.54395C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.73911G>A (TTN) MANE Select NP_001254479.2:p.Trp24637Ter
ENST00000589042.5:c.73911G>A (TTN) MANE Select ENSP00000467141.1:p.Trp24637Ter
NM_001256850.1:c.68988G>A (TTN) NP_001243779.1:p.Trp22996Ter
NM_003319.4:c.46716G>A (TTN) NP_003310.4:p.Trp15572Ter
NM_133378.4:c.66207G>A (TTN) NP_596869.4:p.Trp22069Ter
NM_133432.3:c.47091G>A (TTN) NP_597676.3:p.Trp15697Ter
NM_133437.4:c.47292G>A (TTN) NP_597681.4:p.Trp15764Ter
NR_038271.1:n.596+772C>T (TTN-AS1)
NR_038272.1:n.2044-10351C>T (TTN-AS1)
ENST00000342175.10:c.47292G>A (TTN) ENSP00000340554.6:p.Trp15764Ter
ENST00000342175.11:c.47292G>A (TTN) ENSP00000340554.6:p.Trp15764Ter
ENST00000342992.10:c.66207G>A (TTN) ENSP00000343764.6:p.Trp22069Ter
ENST00000342992.11:c.66207G>A (TTN) ENSP00000343764.6:p.Trp22069Ter
ENST00000359218.10:c.47091G>A (TTN) ENSP00000352154.5:p.Trp15697Ter
ENST00000359218.9:c.47091G>A (TTN) ENSP00000352154.5:p.Trp15697Ter
ENST00000460472.6:c.46716G>A (TTN) ENSP00000434586.1:p.Trp15572Ter
ENST00000591111.5:c.68988G>A (TTN) ENSP00000465570.1:p.Trp22996Ter
ENST00000615779.4:c.68988G>A (TTN) ENSP00000483597.1:p.Trp22996Ter
XM_011511729.1:c.73008G>A (TTN) XP_011510031.1:p.Trp24336Ter
XM_011511730.1:c.46902G>A (TTN) XP_011510032.1:p.Trp15634Ter
XM_011511731.1:c.46761G>A (TTN) XP_011510033.1:p.Trp15587Ter
XM_017004819.1:c.72804G>A (TTN) XP_016860308.1:p.Trp24268Ter
XM_017004820.1:c.68202G>A (TTN) XP_016860309.1:p.Trp22734Ter
XM_017004821.1:c.68199G>A (TTN) XP_016860310.1:p.Trp22733Ter
XM_017004822.1:c.65241G>A (TTN) XP_016860311.1:p.Trp21747Ter
XM_017004823.1:c.46857G>A (TTN) XP_016860312.1:p.Trp15619Ter
XM_024453094.1:c.68352G>A (TTN) XP_024308862.1:p.Trp22784Ter
XM_024453095.1:c.68349G>A (TTN) XP_024308863.1:p.Trp22783Ter
XM_024453096.1:c.67782G>A (TTN) XP_024308864.1:p.Trp22594Ter
XM_024453097.1:c.65124G>A (TTN) XP_024308865.1:p.Trp21708Ter
XM_024453098.1:c.65043G>A (TTN) XP_024308866.1:p.Trp21681Ter
XM_024453099.1:c.46806G>A (TTN) XP_024308867.1:p.Trp15602Ter
XM_024453100.1:c.36660G>A (TTN) XP_024308868.1:p.Trp12220Ter