Canonical Allele Identifier: CA349407122

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530555G>C , CM000664.2:g.178530555G>C GRCh38
NC_000002.11:g.179395282G>C , CM000664.1:g.179395282G>C GRCh37
NC_000002.10:g.179103528G>C NCBI36
NG_011618.3:g.305248C>G , LRG_391:g.305248C>G
NG_051363.1:g.12729G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98356C>G (TTN) ENSP00000343764.6:p.Gln32786Glu
ENST00000342175.11:c.79441C>G (TTN) ENSP00000340554.6:p.Gln26481Glu
ENST00000359218.10:c.79240C>G (TTN) ENSP00000352154.5:p.Gln26414Glu
ENST00000342175.10:c.79441C>G (TTN) ENSP00000340554.6:p.Gln26481Glu
ENST00000342992.10:c.98356C>G (TTN) ENSP00000343764.6:p.Gln32786Glu
ENST00000359218.9:c.79240C>G (TTN) ENSP00000352154.5:p.Gln26414Glu
ENST00000460472.6:c.78865C>G (TTN) ENSP00000434586.1:p.Gln26289Glu
ENST00000589042.5:c.106060C>G (TTN) MANE Select ENSP00000467141.1:p.Gln35354Glu
ENST00000591111.5:c.101137C>G (TTN) ENSP00000465570.1:p.Gln33713Glu
ENST00000615779.4:c.101137C>G (TTN) ENSP00000483597.1:p.Gln33713Glu
NM_001256850.1:c.101137C>G (TTN) NP_001243779.1:p.Gln33713Glu
NM_001267550.2:c.106060C>G (TTN) MANE Select NP_001254479.2:p.Gln35354Glu
NM_003319.4:c.78865C>G (TTN) NP_003310.4:p.Gln26289Glu
NM_133378.4:c.98356C>G (TTN) NP_596869.4:p.Gln32786Glu
NM_133432.3:c.79240C>G (TTN) NP_597676.3:p.Gln26414Glu
NM_133437.4:c.79441C>G (TTN) NP_597681.4:p.Gln26481Glu
NR_038271.1:n.446+6919G>C (TTN-AS1)
NR_038272.1:n.220-5177G>C (TTN-AS1)
XM_011511729.1:c.105157C>G (TTN) XP_011510031.1:p.Gln35053Glu
XM_011511730.1:c.79051C>G (TTN) XP_011510032.1:p.Gln26351Glu
XM_011511731.1:c.78910C>G (TTN) XP_011510033.1:p.Gln26304Glu
XM_017004819.1:c.104953C>G (TTN) XP_016860308.1:p.Gln34985Glu
XM_017004820.1:c.100351C>G (TTN) XP_016860309.1:p.Gln33451Glu
XM_017004821.1:c.100348C>G (TTN) XP_016860310.1:p.Gln33450Glu
XM_017004822.1:c.97390C>G (TTN) XP_016860311.1:p.Gln32464Glu
XM_017004823.1:c.79006C>G (TTN) XP_016860312.1:p.Gln26336Glu
XM_024453094.1:c.100501C>G (TTN) XP_024308862.1:p.Gln33501Glu
XM_024453095.1:c.100498C>G (TTN) XP_024308863.1:p.Gln33500Glu
XM_024453096.1:c.99931C>G (TTN) XP_024308864.1:p.Gln33311Glu
XM_024453097.1:c.97273C>G (TTN) XP_024308865.1:p.Gln32425Glu
XM_024453098.1:c.97192C>G (TTN) XP_024308866.1:p.Gln32398Glu
XM_024453099.1:c.78955C>G (TTN) XP_024308867.1:p.Gln26319Glu
XM_024453100.1:c.68809C>G (TTN) XP_024308868.1:p.Gln22937Glu