Canonical Allele Identifier: CA349645353
Community Standard Title: NM_001267550.2(TTN):c.72816C>A (p.Cys24272Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573316G>T , CM000664.2:g.178573316G>T GRCh38
NC_000002.11:g.179438043G>T , CM000664.1:g.179438043G>T GRCh37
NC_000002.10:g.179146289G>T NCBI36
NG_011618.3:g.262487C>A , LRG_391:g.262487C>A
NG_051363.1:g.55490G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.72816C>A (TTN) MANE Select NP_001254479.2:p.Cys24272Ter
ENST00000589042.5:c.72816C>A (TTN) MANE Select ENSP00000467141.1:p.Cys24272Ter
NM_001256850.1:c.67893C>A (TTN) NP_001243779.1:p.Cys22631Ter
NM_003319.4:c.45621C>A (TTN) NP_003310.4:p.Cys15207Ter
NM_133378.4:c.65112C>A (TTN) NP_596869.4:p.Cys21704Ter
NM_133432.3:c.45996C>A (TTN) NP_597676.3:p.Cys15332Ter
NM_133437.4:c.46197C>A (TTN) NP_597681.4:p.Cys15399Ter
NR_038271.1:n.596+1867G>T (TTN-AS1)
NR_038272.1:n.2044-9256G>T (TTN-AS1)
ENST00000342175.10:c.46197C>A (TTN) ENSP00000340554.6:p.Cys15399Ter
ENST00000342175.11:c.46197C>A (TTN) ENSP00000340554.6:p.Cys15399Ter
ENST00000342992.10:c.65112C>A (TTN) ENSP00000343764.6:p.Cys21704Ter
ENST00000342992.11:c.65112C>A (TTN) ENSP00000343764.6:p.Cys21704Ter
ENST00000359218.10:c.45996C>A (TTN) ENSP00000352154.5:p.Cys15332Ter
ENST00000359218.9:c.45996C>A (TTN) ENSP00000352154.5:p.Cys15332Ter
ENST00000460472.6:c.45621C>A (TTN) ENSP00000434586.1:p.Cys15207Ter
ENST00000591111.5:c.67893C>A (TTN) ENSP00000465570.1:p.Cys22631Ter
ENST00000615779.4:c.67893C>A (TTN) ENSP00000483597.1:p.Cys22631Ter
XM_011511729.1:c.71913C>A (TTN) XP_011510031.1:p.Cys23971Ter
XM_011511730.1:c.45807C>A (TTN) XP_011510032.1:p.Cys15269Ter
XM_011511731.1:c.45666C>A (TTN) XP_011510033.1:p.Cys15222Ter
XM_017004819.1:c.71709C>A (TTN) XP_016860308.1:p.Cys23903Ter
XM_017004820.1:c.67107C>A (TTN) XP_016860309.1:p.Cys22369Ter
XM_017004821.1:c.67104C>A (TTN) XP_016860310.1:p.Cys22368Ter
XM_017004822.1:c.64146C>A (TTN) XP_016860311.1:p.Cys21382Ter
XM_017004823.1:c.45762C>A (TTN) XP_016860312.1:p.Cys15254Ter
XM_024453094.1:c.67257C>A (TTN) XP_024308862.1:p.Cys22419Ter
XM_024453095.1:c.67254C>A (TTN) XP_024308863.1:p.Cys22418Ter
XM_024453096.1:c.66687C>A (TTN) XP_024308864.1:p.Cys22229Ter
XM_024453097.1:c.64029C>A (TTN) XP_024308865.1:p.Cys21343Ter
XM_024453098.1:c.63948C>A (TTN) XP_024308866.1:p.Cys21316Ter
XM_024453099.1:c.45711C>A (TTN) XP_024308867.1:p.Cys15237Ter
XM_024453100.1:c.35565C>A (TTN) XP_024308868.1:p.Cys11855Ter