Canonical Allele Identifier: CA349600522

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567195G>T , CM000664.2:g.178567195G>T GRCh38
NC_000002.11:g.179431922G>T , CM000664.1:g.179431922G>T GRCh37
NC_000002.10:g.179140168G>T NCBI36
NG_011618.3:g.268608C>A , LRG_391:g.268608C>A
NG_051363.1:g.49369G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71233C>A (TTN) ENSP00000343764.6:p.Gln23745Lys
ENST00000342175.11:c.52318C>A (TTN) ENSP00000340554.6:p.Gln17440Lys
ENST00000359218.10:c.52117C>A (TTN) ENSP00000352154.5:p.Gln17373Lys
ENST00000342175.10:c.52318C>A (TTN) ENSP00000340554.6:p.Gln17440Lys
ENST00000342992.10:c.71233C>A (TTN) ENSP00000343764.6:p.Gln23745Lys
ENST00000359218.9:c.52117C>A (TTN) ENSP00000352154.5:p.Gln17373Lys
ENST00000460472.6:c.51742C>A (TTN) ENSP00000434586.1:p.Gln17248Lys
ENST00000589042.5:c.78937C>A (TTN) MANE Select ENSP00000467141.1:p.Gln26313Lys
ENST00000591111.5:c.74014C>A (TTN) ENSP00000465570.1:p.Gln24672Lys
ENST00000615779.4:c.74014C>A (TTN) ENSP00000483597.1:p.Gln24672Lys
NM_001256850.1:c.74014C>A (TTN) NP_001243779.1:p.Gln24672Lys
NM_001267550.2:c.78937C>A (TTN) MANE Select NP_001254479.2:p.Gln26313Lys
NM_003319.4:c.51742C>A (TTN) NP_003310.4:p.Gln17248Lys
NM_133378.4:c.71233C>A (TTN) NP_596869.4:p.Gln23745Lys
NM_133432.3:c.52117C>A (TTN) NP_597676.3:p.Gln17373Lys
NM_133437.4:c.52318C>A (TTN) NP_597681.4:p.Gln17440Lys
NR_038271.1:n.447-4105G>T (TTN-AS1)
NR_038272.1:n.2044-15377G>T (TTN-AS1)
XM_011511729.1:c.78034C>A (TTN) XP_011510031.1:p.Gln26012Lys
XM_011511730.1:c.51928C>A (TTN) XP_011510032.1:p.Gln17310Lys
XM_011511731.1:c.51787C>A (TTN) XP_011510033.1:p.Gln17263Lys
XM_017004819.1:c.77830C>A (TTN) XP_016860308.1:p.Gln25944Lys
XM_017004820.1:c.73228C>A (TTN) XP_016860309.1:p.Gln24410Lys
XM_017004821.1:c.73225C>A (TTN) XP_016860310.1:p.Gln24409Lys
XM_017004822.1:c.70267C>A (TTN) XP_016860311.1:p.Gln23423Lys
XM_017004823.1:c.51883C>A (TTN) XP_016860312.1:p.Gln17295Lys
XM_024453094.1:c.73378C>A (TTN) XP_024308862.1:p.Gln24460Lys
XM_024453095.1:c.73375C>A (TTN) XP_024308863.1:p.Gln24459Lys
XM_024453096.1:c.72808C>A (TTN) XP_024308864.1:p.Gln24270Lys
XM_024453097.1:c.70150C>A (TTN) XP_024308865.1:p.Gln23384Lys
XM_024453098.1:c.70069C>A (TTN) XP_024308866.1:p.Gln23357Lys
XM_024453099.1:c.51832C>A (TTN) XP_024308867.1:p.Gln17278Lys
XM_024453100.1:c.41686C>A (TTN) XP_024308868.1:p.Gln13896Lys