Canonical Allele Identifier: CA349568939

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178607685T>C , CM000664.2:g.178607685T>C GRCh38
NC_000002.11:g.179472412T>C , CM000664.1:g.179472412T>C GRCh37
NC_000002.10:g.179180657T>C NCBI36
NG_011618.3:g.228118A>G , LRG_391:g.228118A>G
NG_051363.1:g.89859T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.45299A>G (TTN) ENSP00000343764.6:p.Glu15100Gly
ENST00000342175.11:c.26384A>G (TTN) ENSP00000340554.6:p.Glu8795Gly
ENST00000359218.10:c.26183A>G (TTN) ENSP00000352154.5:p.Glu8728Gly
ENST00000342175.10:c.26384A>G (TTN) ENSP00000340554.6:p.Glu8795Gly
ENST00000342992.10:c.45299A>G (TTN) ENSP00000343764.6:p.Glu15100Gly
ENST00000359218.9:c.26183A>G (TTN) ENSP00000352154.5:p.Glu8728Gly
ENST00000460472.6:c.25808A>G (TTN) ENSP00000434586.1:p.Glu8603Gly
ENST00000589042.5:c.53003A>G (TTN) MANE Select ENSP00000467141.1:p.Glu17668Gly
ENST00000591111.5:c.48080A>G (TTN) ENSP00000465570.1:p.Glu16027Gly
ENST00000615779.4:c.48080A>G (TTN) ENSP00000483597.1:p.Glu16027Gly
NM_001256850.1:c.48080A>G (TTN) NP_001243779.1:p.Glu16027Gly
NM_001267550.2:c.53003A>G (TTN) MANE Select NP_001254479.2:p.Glu17668Gly
NM_003319.4:c.25808A>G (TTN) NP_003310.4:p.Glu8603Gly
NM_133378.4:c.45299A>G (TTN) NP_596869.4:p.Glu15100Gly
NM_133432.3:c.26183A>G (TTN) NP_597676.3:p.Glu8728Gly
NM_133437.4:c.26384A>G (TTN) NP_597681.4:p.Glu8795Gly
NR_038271.1:n.683-482T>C (TTN-AS1)
XM_011511729.1:c.52100A>G (TTN) XP_011510031.1:p.Glu17367Gly
XM_011511730.1:c.25994A>G (TTN) XP_011510032.1:p.Glu8665Gly
XM_011511731.1:c.25853A>G (TTN) XP_011510033.1:p.Glu8618Gly
XM_017004819.1:c.51896A>G (TTN) XP_016860308.1:p.Glu17299Gly
XM_017004820.1:c.47294A>G (TTN) XP_016860309.1:p.Glu15765Gly
XM_017004821.1:c.47291A>G (TTN) XP_016860310.1:p.Glu15764Gly
XM_017004822.1:c.44333A>G (TTN) XP_016860311.1:p.Glu14778Gly
XM_017004823.1:c.25949A>G (TTN) XP_016860312.1:p.Glu8650Gly
XM_024453094.1:c.47444A>G (TTN) XP_024308862.1:p.Glu15815Gly
XM_024453095.1:c.47441A>G (TTN) XP_024308863.1:p.Glu15814Gly
XM_024453096.1:c.46874A>G (TTN) XP_024308864.1:p.Glu15625Gly
XM_024453097.1:c.44216A>G (TTN) XP_024308865.1:p.Glu14739Gly
XM_024453098.1:c.44135A>G (TTN) XP_024308866.1:p.Glu14712Gly
XM_024453099.1:c.25898A>G (TTN) XP_024308867.1:p.Glu8633Gly
XM_024453100.1:c.15752A>G (TTN) XP_024308868.1:p.Glu5251Gly