Canonical Allele Identifier: CA349398502

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527102C>G , CM000664.2:g.178527102C>G GRCh38
NC_000002.11:g.179391829C>G , CM000664.1:g.179391829C>G GRCh37
NC_000002.10:g.179100075C>G NCBI36
NG_011618.3:g.308701G>C , LRG_391:g.308701G>C
NG_051363.1:g.9276C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100182G>C (TTN) ENSP00000343764.6:p.Gln33394His
ENST00000342175.11:c.81267G>C (TTN) ENSP00000340554.6:p.Gln27089His
ENST00000359218.10:c.81066G>C (TTN) ENSP00000352154.5:p.Gln27022His
ENST00000342175.10:c.81267G>C (TTN) ENSP00000340554.6:p.Gln27089His
ENST00000342992.10:c.100182G>C (TTN) ENSP00000343764.6:p.Gln33394His
ENST00000359218.9:c.81066G>C (TTN) ENSP00000352154.5:p.Gln27022His
ENST00000460472.6:c.80691G>C (TTN) ENSP00000434586.1:p.Gln26897His
ENST00000589042.5:c.107886G>C (TTN) MANE Select ENSP00000467141.1:p.Gln35962His
ENST00000591111.5:c.102963G>C (TTN) ENSP00000465570.1:p.Gln34321His
ENST00000615779.4:c.102963G>C (TTN) ENSP00000483597.1:p.Gln34321His
NM_001256850.1:c.102963G>C (TTN) NP_001243779.1:p.Gln34321His
NM_001267550.2:c.107886G>C (TTN) MANE Select NP_001254479.2:p.Gln35962His
NM_003319.4:c.80691G>C (TTN) NP_003310.4:p.Gln26897His
NM_133378.4:c.100182G>C (TTN) NP_596869.4:p.Gln33394His
NM_133432.3:c.81066G>C (TTN) NP_597676.3:p.Gln27022His
NM_133437.4:c.81267G>C (TTN) NP_597681.4:p.Gln27089His
NR_038271.1:n.446+3466C>G (TTN-AS1)
NR_038272.1:n.219+3466C>G (TTN-AS1)
XM_011511729.1:c.106983G>C (TTN) XP_011510031.1:p.Gln35661His
XM_011511730.1:c.80877G>C (TTN) XP_011510032.1:p.Gln26959His
XM_011511731.1:c.80736G>C (TTN) XP_011510033.1:p.Gln26912His
XM_017004819.1:c.106779G>C (TTN) XP_016860308.1:p.Gln35593His
XM_017004820.1:c.102177G>C (TTN) XP_016860309.1:p.Gln34059His
XM_017004821.1:c.102174G>C (TTN) XP_016860310.1:p.Gln34058His
XM_017004822.1:c.99216G>C (TTN) XP_016860311.1:p.Gln33072His
XM_017004823.1:c.80832G>C (TTN) XP_016860312.1:p.Gln26944His
XM_024453094.1:c.102327G>C (TTN) XP_024308862.1:p.Gln34109His
XM_024453095.1:c.102324G>C (TTN) XP_024308863.1:p.Gln34108His
XM_024453096.1:c.101757G>C (TTN) XP_024308864.1:p.Gln33919His
XM_024453097.1:c.99099G>C (TTN) XP_024308865.1:p.Gln33033His
XM_024453098.1:c.99018G>C (TTN) XP_024308866.1:p.Gln33006His
XM_024453099.1:c.80781G>C (TTN) XP_024308867.1:p.Gln26927His
XM_024453100.1:c.70635G>C (TTN) XP_024308868.1:p.Gln23545His