Canonical Allele Identifier: CA349411726

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532174T>C , CM000664.2:g.178532174T>C GRCh38
NC_000002.11:g.179396901T>C , CM000664.1:g.179396901T>C GRCh37
NC_000002.10:g.179105147T>C NCBI36
NG_011618.3:g.303629A>G , LRG_391:g.303629A>G
NG_051363.1:g.14348T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96737A>G (TTN) ENSP00000343764.6:p.Glu32246Gly
ENST00000342175.11:c.77822A>G (TTN) ENSP00000340554.6:p.Glu25941Gly
ENST00000359218.10:c.77621A>G (TTN) ENSP00000352154.5:p.Glu25874Gly
ENST00000342175.10:c.77822A>G (TTN) ENSP00000340554.6:p.Glu25941Gly
ENST00000342992.10:c.96737A>G (TTN) ENSP00000343764.6:p.Glu32246Gly
ENST00000359218.9:c.77621A>G (TTN) ENSP00000352154.5:p.Glu25874Gly
ENST00000460472.6:c.77246A>G (TTN) ENSP00000434586.1:p.Glu25749Gly
ENST00000589042.5:c.104441A>G (TTN) MANE Select ENSP00000467141.1:p.Glu34814Gly
ENST00000591111.5:c.99518A>G (TTN) ENSP00000465570.1:p.Glu33173Gly
ENST00000615779.4:c.99518A>G (TTN) ENSP00000483597.1:p.Glu33173Gly
NM_001256850.1:c.99518A>G (TTN) NP_001243779.1:p.Glu33173Gly
NM_001267550.2:c.104441A>G (TTN) MANE Select NP_001254479.2:p.Glu34814Gly
NM_003319.4:c.77246A>G (TTN) NP_003310.4:p.Glu25749Gly
NM_133378.4:c.96737A>G (TTN) NP_596869.4:p.Glu32246Gly
NM_133432.3:c.77621A>G (TTN) NP_597676.3:p.Glu25874Gly
NM_133437.4:c.77822A>G (TTN) NP_597681.4:p.Glu25941Gly
NR_038271.1:n.446+8538T>C (TTN-AS1)
NR_038272.1:n.220-3558T>C (TTN-AS1)
XM_011511729.1:c.103538A>G (TTN) XP_011510031.1:p.Glu34513Gly
XM_011511730.1:c.77432A>G (TTN) XP_011510032.1:p.Glu25811Gly
XM_011511731.1:c.77291A>G (TTN) XP_011510033.1:p.Glu25764Gly
XM_017004819.1:c.103334A>G (TTN) XP_016860308.1:p.Glu34445Gly
XM_017004820.1:c.98732A>G (TTN) XP_016860309.1:p.Glu32911Gly
XM_017004821.1:c.98729A>G (TTN) XP_016860310.1:p.Glu32910Gly
XM_017004822.1:c.95771A>G (TTN) XP_016860311.1:p.Glu31924Gly
XM_017004823.1:c.77387A>G (TTN) XP_016860312.1:p.Glu25796Gly
XM_024453094.1:c.98882A>G (TTN) XP_024308862.1:p.Glu32961Gly
XM_024453095.1:c.98879A>G (TTN) XP_024308863.1:p.Glu32960Gly
XM_024453096.1:c.98312A>G (TTN) XP_024308864.1:p.Glu32771Gly
XM_024453097.1:c.95654A>G (TTN) XP_024308865.1:p.Glu31885Gly
XM_024453098.1:c.95573A>G (TTN) XP_024308866.1:p.Glu31858Gly
XM_024453099.1:c.77336A>G (TTN) XP_024308867.1:p.Glu25779Gly
XM_024453100.1:c.67190A>G (TTN) XP_024308868.1:p.Glu22397Gly