Canonical Allele Identifier: CA349411749

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532184C>G , CM000664.2:g.178532184C>G GRCh38
NC_000002.11:g.179396911C>G , CM000664.1:g.179396911C>G GRCh37
NC_000002.10:g.179105157C>G NCBI36
NG_011618.3:g.303619G>C , LRG_391:g.303619G>C
NG_051363.1:g.14358C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96727G>C (TTN) ENSP00000343764.6:p.Glu32243Gln
ENST00000342175.11:c.77812G>C (TTN) ENSP00000340554.6:p.Glu25938Gln
ENST00000359218.10:c.77611G>C (TTN) ENSP00000352154.5:p.Glu25871Gln
ENST00000342175.10:c.77812G>C (TTN) ENSP00000340554.6:p.Glu25938Gln
ENST00000342992.10:c.96727G>C (TTN) ENSP00000343764.6:p.Glu32243Gln
ENST00000359218.9:c.77611G>C (TTN) ENSP00000352154.5:p.Glu25871Gln
ENST00000460472.6:c.77236G>C (TTN) ENSP00000434586.1:p.Glu25746Gln
ENST00000589042.5:c.104431G>C (TTN) MANE Select ENSP00000467141.1:p.Glu34811Gln
ENST00000591111.5:c.99508G>C (TTN) ENSP00000465570.1:p.Glu33170Gln
ENST00000615779.4:c.99508G>C (TTN) ENSP00000483597.1:p.Glu33170Gln
NM_001256850.1:c.99508G>C (TTN) NP_001243779.1:p.Glu33170Gln
NM_001267550.2:c.104431G>C (TTN) MANE Select NP_001254479.2:p.Glu34811Gln
NM_003319.4:c.77236G>C (TTN) NP_003310.4:p.Glu25746Gln
NM_133378.4:c.96727G>C (TTN) NP_596869.4:p.Glu32243Gln
NM_133432.3:c.77611G>C (TTN) NP_597676.3:p.Glu25871Gln
NM_133437.4:c.77812G>C (TTN) NP_597681.4:p.Glu25938Gln
NR_038271.1:n.446+8548C>G (TTN-AS1)
NR_038272.1:n.220-3548C>G (TTN-AS1)
XM_011511729.1:c.103528G>C (TTN) XP_011510031.1:p.Glu34510Gln
XM_011511730.1:c.77422G>C (TTN) XP_011510032.1:p.Glu25808Gln
XM_011511731.1:c.77281G>C (TTN) XP_011510033.1:p.Glu25761Gln
XM_017004819.1:c.103324G>C (TTN) XP_016860308.1:p.Glu34442Gln
XM_017004820.1:c.98722G>C (TTN) XP_016860309.1:p.Glu32908Gln
XM_017004821.1:c.98719G>C (TTN) XP_016860310.1:p.Glu32907Gln
XM_017004822.1:c.95761G>C (TTN) XP_016860311.1:p.Glu31921Gln
XM_017004823.1:c.77377G>C (TTN) XP_016860312.1:p.Glu25793Gln
XM_024453094.1:c.98872G>C (TTN) XP_024308862.1:p.Glu32958Gln
XM_024453095.1:c.98869G>C (TTN) XP_024308863.1:p.Glu32957Gln
XM_024453096.1:c.98302G>C (TTN) XP_024308864.1:p.Glu32768Gln
XM_024453097.1:c.95644G>C (TTN) XP_024308865.1:p.Glu31882Gln
XM_024453098.1:c.95563G>C (TTN) XP_024308866.1:p.Glu31855Gln
XM_024453099.1:c.77326G>C (TTN) XP_024308867.1:p.Glu25776Gln
XM_024453100.1:c.67180G>C (TTN) XP_024308868.1:p.Glu22394Gln