Canonical Allele Identifier: CA349600186
Community Standard Title: NM_001267550.2(TTN):c.79016C>A (p.Ser26339Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567116G>T , CM000664.2:g.178567116G>T GRCh38
NC_000002.11:g.179431843G>T , CM000664.1:g.179431843G>T GRCh37
NC_000002.10:g.179140089G>T NCBI36
NG_011618.3:g.268687C>A , LRG_391:g.268687C>A
NG_051363.1:g.49290G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.79016C>A (TTN) MANE Select NP_001254479.2:p.Ser26339Ter
ENST00000589042.5:c.79016C>A (TTN) MANE Select ENSP00000467141.1:p.Ser26339Ter
NM_001256850.1:c.74093C>A (TTN) NP_001243779.1:p.Ser24698Ter
NM_003319.4:c.51821C>A (TTN) NP_003310.4:p.Ser17274Ter
NM_133378.4:c.71312C>A (TTN) NP_596869.4:p.Ser23771Ter
NM_133432.3:c.52196C>A (TTN) NP_597676.3:p.Ser17399Ter
NM_133437.4:c.52397C>A (TTN) NP_597681.4:p.Ser17466Ter
NR_038271.1:n.447-4184G>T (TTN-AS1)
NR_038272.1:n.2044-15456G>T (TTN-AS1)
ENST00000342175.10:c.52397C>A (TTN) ENSP00000340554.6:p.Ser17466Ter
ENST00000342175.11:c.52397C>A (TTN) ENSP00000340554.6:p.Ser17466Ter
ENST00000342992.10:c.71312C>A (TTN) ENSP00000343764.6:p.Ser23771Ter
ENST00000342992.11:c.71312C>A (TTN) ENSP00000343764.6:p.Ser23771Ter
ENST00000359218.10:c.52196C>A (TTN) ENSP00000352154.5:p.Ser17399Ter
ENST00000359218.9:c.52196C>A (TTN) ENSP00000352154.5:p.Ser17399Ter
ENST00000460472.6:c.51821C>A (TTN) ENSP00000434586.1:p.Ser17274Ter
ENST00000591111.5:c.74093C>A (TTN) ENSP00000465570.1:p.Ser24698Ter
ENST00000615779.4:c.74093C>A (TTN) ENSP00000483597.1:p.Ser24698Ter
XM_011511729.1:c.78113C>A (TTN) XP_011510031.1:p.Ser26038Ter
XM_011511730.1:c.52007C>A (TTN) XP_011510032.1:p.Ser17336Ter
XM_011511731.1:c.51866C>A (TTN) XP_011510033.1:p.Ser17289Ter
XM_017004819.1:c.77909C>A (TTN) XP_016860308.1:p.Ser25970Ter
XM_017004820.1:c.73307C>A (TTN) XP_016860309.1:p.Ser24436Ter
XM_017004821.1:c.73304C>A (TTN) XP_016860310.1:p.Ser24435Ter
XM_017004822.1:c.70346C>A (TTN) XP_016860311.1:p.Ser23449Ter
XM_017004823.1:c.51962C>A (TTN) XP_016860312.1:p.Ser17321Ter
XM_024453094.1:c.73457C>A (TTN) XP_024308862.1:p.Ser24486Ter
XM_024453095.1:c.73454C>A (TTN) XP_024308863.1:p.Ser24485Ter
XM_024453096.1:c.72887C>A (TTN) XP_024308864.1:p.Ser24296Ter
XM_024453097.1:c.70229C>A (TTN) XP_024308865.1:p.Ser23410Ter
XM_024453098.1:c.70148C>A (TTN) XP_024308866.1:p.Ser23383Ter
XM_024453099.1:c.51911C>A (TTN) XP_024308867.1:p.Ser17304Ter
XM_024453100.1:c.41765C>A (TTN) XP_024308868.1:p.Ser13922Ter