Canonical Allele Identifier: CA349537724
Community Standard Title: NM_001267550.2(TTN):c.55796C>A (p.Ser18599Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178601108G>T , CM000664.2:g.178601108G>T GRCh38
NC_000002.11:g.179465835G>T , CM000664.1:g.179465835G>T GRCh37
NC_000002.10:g.179174080G>T NCBI36
NG_011618.3:g.234695C>A , LRG_391:g.234695C>A
NG_051363.1:g.83282G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.55796C>A (TTN) MANE Select NP_001254479.2:p.Ser18599Ter
ENST00000589042.5:c.55796C>A (TTN) MANE Select ENSP00000467141.1:p.Ser18599Ter
NM_001256850.1:c.50873C>A (TTN) NP_001243779.1:p.Ser16958Ter
NM_003319.4:c.28601C>A (TTN) NP_003310.4:p.Ser9534Ter
NM_133378.4:c.48092C>A (TTN) NP_596869.4:p.Ser16031Ter
NM_133432.3:c.28976C>A (TTN) NP_597676.3:p.Ser9659Ter
NM_133437.4:c.29177C>A (TTN) NP_597681.4:p.Ser9726Ter
NR_038271.1:n.682+3427G>T (TTN-AS1)
NR_038272.1:n.3917+441G>T (TTN-AS1)
ENST00000342175.10:c.29177C>A (TTN) ENSP00000340554.6:p.Ser9726Ter
ENST00000342175.11:c.29177C>A (TTN) ENSP00000340554.6:p.Ser9726Ter
ENST00000342992.10:c.48092C>A (TTN) ENSP00000343764.6:p.Ser16031Ter
ENST00000342992.11:c.48092C>A (TTN) ENSP00000343764.6:p.Ser16031Ter
ENST00000359218.10:c.28976C>A (TTN) ENSP00000352154.5:p.Ser9659Ter
ENST00000359218.9:c.28976C>A (TTN) ENSP00000352154.5:p.Ser9659Ter
ENST00000460472.6:c.28601C>A (TTN) ENSP00000434586.1:p.Ser9534Ter
ENST00000591111.5:c.50873C>A (TTN) ENSP00000465570.1:p.Ser16958Ter
ENST00000615779.4:c.50873C>A (TTN) ENSP00000483597.1:p.Ser16958Ter
XM_011511729.1:c.54893C>A (TTN) XP_011510031.1:p.Ser18298Ter
XM_011511730.1:c.28787C>A (TTN) XP_011510032.1:p.Ser9596Ter
XM_011511731.1:c.28646C>A (TTN) XP_011510033.1:p.Ser9549Ter
XM_017004819.1:c.54689C>A (TTN) XP_016860308.1:p.Ser18230Ter
XM_017004820.1:c.50087C>A (TTN) XP_016860309.1:p.Ser16696Ter
XM_017004821.1:c.50084C>A (TTN) XP_016860310.1:p.Ser16695Ter
XM_017004822.1:c.47126C>A (TTN) XP_016860311.1:p.Ser15709Ter
XM_017004823.1:c.28742C>A (TTN) XP_016860312.1:p.Ser9581Ter
XM_024453094.1:c.50237C>A (TTN) XP_024308862.1:p.Ser16746Ter
XM_024453095.1:c.50234C>A (TTN) XP_024308863.1:p.Ser16745Ter
XM_024453096.1:c.49667C>A (TTN) XP_024308864.1:p.Ser16556Ter
XM_024453097.1:c.47009C>A (TTN) XP_024308865.1:p.Ser15670Ter
XM_024453098.1:c.46928C>A (TTN) XP_024308866.1:p.Ser15643Ter
XM_024453099.1:c.28691C>A (TTN) XP_024308867.1:p.Ser9564Ter
XM_024453100.1:c.18545C>A (TTN) XP_024308868.1:p.Ser6182Ter