Canonical Allele Identifier: CA349398460

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527096T>G , CM000664.2:g.178527096T>G GRCh38
NC_000002.11:g.179391823T>G , CM000664.1:g.179391823T>G GRCh37
NC_000002.10:g.179100069T>G NCBI36
NG_011618.3:g.308707A>C , LRG_391:g.308707A>C
NG_051363.1:g.9270T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100188A>C (TTN) ENSP00000343764.6:p.Gln33396His
ENST00000342175.11:c.81273A>C (TTN) ENSP00000340554.6:p.Gln27091His
ENST00000359218.10:c.81072A>C (TTN) ENSP00000352154.5:p.Gln27024His
ENST00000342175.10:c.81273A>C (TTN) ENSP00000340554.6:p.Gln27091His
ENST00000342992.10:c.100188A>C (TTN) ENSP00000343764.6:p.Gln33396His
ENST00000359218.9:c.81072A>C (TTN) ENSP00000352154.5:p.Gln27024His
ENST00000460472.6:c.80697A>C (TTN) ENSP00000434586.1:p.Gln26899His
ENST00000589042.5:c.107892A>C (TTN) MANE Select ENSP00000467141.1:p.Gln35964His
ENST00000591111.5:c.102969A>C (TTN) ENSP00000465570.1:p.Gln34323His
ENST00000615779.4:c.102969A>C (TTN) ENSP00000483597.1:p.Gln34323His
NM_001256850.1:c.102969A>C (TTN) NP_001243779.1:p.Gln34323His
NM_001267550.2:c.107892A>C (TTN) MANE Select NP_001254479.2:p.Gln35964His
NM_003319.4:c.80697A>C (TTN) NP_003310.4:p.Gln26899His
NM_133378.4:c.100188A>C (TTN) NP_596869.4:p.Gln33396His
NM_133432.3:c.81072A>C (TTN) NP_597676.3:p.Gln27024His
NM_133437.4:c.81273A>C (TTN) NP_597681.4:p.Gln27091His
NR_038271.1:n.446+3460T>G (TTN-AS1)
NR_038272.1:n.219+3460T>G (TTN-AS1)
XM_011511729.1:c.106989A>C (TTN) XP_011510031.1:p.Gln35663His
XM_011511730.1:c.80883A>C (TTN) XP_011510032.1:p.Gln26961His
XM_011511731.1:c.80742A>C (TTN) XP_011510033.1:p.Gln26914His
XM_017004819.1:c.106785A>C (TTN) XP_016860308.1:p.Gln35595His
XM_017004820.1:c.102183A>C (TTN) XP_016860309.1:p.Gln34061His
XM_017004821.1:c.102180A>C (TTN) XP_016860310.1:p.Gln34060His
XM_017004822.1:c.99222A>C (TTN) XP_016860311.1:p.Gln33074His
XM_017004823.1:c.80838A>C (TTN) XP_016860312.1:p.Gln26946His
XM_024453094.1:c.102333A>C (TTN) XP_024308862.1:p.Gln34111His
XM_024453095.1:c.102330A>C (TTN) XP_024308863.1:p.Gln34110His
XM_024453096.1:c.101763A>C (TTN) XP_024308864.1:p.Gln33921His
XM_024453097.1:c.99105A>C (TTN) XP_024308865.1:p.Gln33035His
XM_024453098.1:c.99024A>C (TTN) XP_024308866.1:p.Gln33008His
XM_024453099.1:c.80787A>C (TTN) XP_024308867.1:p.Gln26929His
XM_024453100.1:c.70641A>C (TTN) XP_024308868.1:p.Gln23547His