Canonical Allele Identifier: CA349444239
Community Standard Title: NM_001267550.2(TTN):c.96937C>T (p.Gln32313Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178542917G>A , CM000664.2:g.178542917G>A GRCh38
NC_000002.11:g.179407644G>A , CM000664.1:g.179407644G>A GRCh37
NC_000002.10:g.179115890G>A NCBI36
NG_011618.3:g.292886C>T , LRG_391:g.292886C>T
NG_051363.1:g.25091G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.96937C>T (TTN) MANE Select NP_001254479.2:p.Gln32313Ter
ENST00000589042.5:c.96937C>T (TTN) MANE Select ENSP00000467141.1:p.Gln32313Ter
NM_001256850.1:c.92014C>T (TTN) NP_001243779.1:p.Gln30672Ter
NM_003319.4:c.69742C>T (TTN) NP_003310.4:p.Gln23248Ter
NM_133378.4:c.89233C>T (TTN) NP_596869.4:p.Gln29745Ter
NM_133432.3:c.70117C>T (TTN) NP_597676.3:p.Gln23373Ter
NM_133437.4:c.70318C>T (TTN) NP_597681.4:p.Gln23440Ter
NR_038271.1:n.446+19281G>A (TTN-AS1)
NR_038272.1:n.2043+556G>A (TTN-AS1)
ENST00000342175.10:c.70318C>T (TTN) ENSP00000340554.6:p.Gln23440Ter
ENST00000342175.11:c.70318C>T (TTN) ENSP00000340554.6:p.Gln23440Ter
ENST00000342992.10:c.89233C>T (TTN) ENSP00000343764.6:p.Gln29745Ter
ENST00000342992.11:c.89233C>T (TTN) ENSP00000343764.6:p.Gln29745Ter
ENST00000359218.10:c.70117C>T (TTN) ENSP00000352154.5:p.Gln23373Ter
ENST00000359218.9:c.70117C>T (TTN) ENSP00000352154.5:p.Gln23373Ter
ENST00000460472.6:c.69742C>T (TTN) ENSP00000434586.1:p.Gln23248Ter
ENST00000591111.5:c.92014C>T (TTN) ENSP00000465570.1:p.Gln30672Ter
ENST00000615779.4:c.92014C>T (TTN) ENSP00000483597.1:p.Gln30672Ter
XM_011511729.1:c.96034C>T (TTN) XP_011510031.1:p.Gln32012Ter
XM_011511730.1:c.69928C>T (TTN) XP_011510032.1:p.Gln23310Ter
XM_011511731.1:c.69787C>T (TTN) XP_011510033.1:p.Gln23263Ter
XM_017004819.1:c.95830C>T (TTN) XP_016860308.1:p.Gln31944Ter
XM_017004820.1:c.91228C>T (TTN) XP_016860309.1:p.Gln30410Ter
XM_017004821.1:c.91225C>T (TTN) XP_016860310.1:p.Gln30409Ter
XM_017004822.1:c.88267C>T (TTN) XP_016860311.1:p.Gln29423Ter
XM_017004823.1:c.69883C>T (TTN) XP_016860312.1:p.Gln23295Ter
XM_024453094.1:c.91378C>T (TTN) XP_024308862.1:p.Gln30460Ter
XM_024453095.1:c.91375C>T (TTN) XP_024308863.1:p.Gln30459Ter
XM_024453096.1:c.90808C>T (TTN) XP_024308864.1:p.Gln30270Ter
XM_024453097.1:c.88150C>T (TTN) XP_024308865.1:p.Gln29384Ter
XM_024453098.1:c.88069C>T (TTN) XP_024308866.1:p.Gln29357Ter
XM_024453099.1:c.69832C>T (TTN) XP_024308867.1:p.Gln23278Ter
XM_024453100.1:c.59686C>T (TTN) XP_024308868.1:p.Gln19896Ter