Canonical Allele Identifier: CA349407257

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530617T>G , CM000664.2:g.178530617T>G GRCh38
NC_000002.11:g.179395344T>G , CM000664.1:g.179395344T>G GRCh37
NC_000002.10:g.179103590T>G NCBI36
NG_011618.3:g.305186A>C , LRG_391:g.305186A>C
NG_051363.1:g.12791T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98294A>C (TTN) ENSP00000343764.6:p.Gln32765Pro
ENST00000342175.11:c.79379A>C (TTN) ENSP00000340554.6:p.Gln26460Pro
ENST00000359218.10:c.79178A>C (TTN) ENSP00000352154.5:p.Gln26393Pro
ENST00000342175.10:c.79379A>C (TTN) ENSP00000340554.6:p.Gln26460Pro
ENST00000342992.10:c.98294A>C (TTN) ENSP00000343764.6:p.Gln32765Pro
ENST00000359218.9:c.79178A>C (TTN) ENSP00000352154.5:p.Gln26393Pro
ENST00000460472.6:c.78803A>C (TTN) ENSP00000434586.1:p.Gln26268Pro
ENST00000589042.5:c.105998A>C (TTN) MANE Select ENSP00000467141.1:p.Gln35333Pro
ENST00000591111.5:c.101075A>C (TTN) ENSP00000465570.1:p.Gln33692Pro
ENST00000615779.4:c.101075A>C (TTN) ENSP00000483597.1:p.Gln33692Pro
NM_001256850.1:c.101075A>C (TTN) NP_001243779.1:p.Gln33692Pro
NM_001267550.2:c.105998A>C (TTN) MANE Select NP_001254479.2:p.Gln35333Pro
NM_003319.4:c.78803A>C (TTN) NP_003310.4:p.Gln26268Pro
NM_133378.4:c.98294A>C (TTN) NP_596869.4:p.Gln32765Pro
NM_133432.3:c.79178A>C (TTN) NP_597676.3:p.Gln26393Pro
NM_133437.4:c.79379A>C (TTN) NP_597681.4:p.Gln26460Pro
NR_038271.1:n.446+6981T>G (TTN-AS1)
NR_038272.1:n.220-5115T>G (TTN-AS1)
XM_011511729.1:c.105095A>C (TTN) XP_011510031.1:p.Gln35032Pro
XM_011511730.1:c.78989A>C (TTN) XP_011510032.1:p.Gln26330Pro
XM_011511731.1:c.78848A>C (TTN) XP_011510033.1:p.Gln26283Pro
XM_017004819.1:c.104891A>C (TTN) XP_016860308.1:p.Gln34964Pro
XM_017004820.1:c.100289A>C (TTN) XP_016860309.1:p.Gln33430Pro
XM_017004821.1:c.100286A>C (TTN) XP_016860310.1:p.Gln33429Pro
XM_017004822.1:c.97328A>C (TTN) XP_016860311.1:p.Gln32443Pro
XM_017004823.1:c.78944A>C (TTN) XP_016860312.1:p.Gln26315Pro
XM_024453094.1:c.100439A>C (TTN) XP_024308862.1:p.Gln33480Pro
XM_024453095.1:c.100436A>C (TTN) XP_024308863.1:p.Gln33479Pro
XM_024453096.1:c.99869A>C (TTN) XP_024308864.1:p.Gln33290Pro
XM_024453097.1:c.97211A>C (TTN) XP_024308865.1:p.Gln32404Pro
XM_024453098.1:c.97130A>C (TTN) XP_024308866.1:p.Gln32377Pro
XM_024453099.1:c.78893A>C (TTN) XP_024308867.1:p.Gln26298Pro
XM_024453100.1:c.68747A>C (TTN) XP_024308868.1:p.Gln22916Pro