Canonical Allele Identifier: CA349545197

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178602332T>C , CM000664.2:g.178602332T>C GRCh38
NC_000002.11:g.179467059T>C , CM000664.1:g.179467059T>C GRCh37
NC_000002.10:g.179175304T>C NCBI36
NG_011618.3:g.233471A>G , LRG_391:g.233471A>G
NG_051363.1:g.84506T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.47366A>G (TTN) ENSP00000343764.6:p.Glu15789Gly
ENST00000342175.11:c.28451A>G (TTN) ENSP00000340554.6:p.Glu9484Gly
ENST00000359218.10:c.28250A>G (TTN) ENSP00000352154.5:p.Glu9417Gly
ENST00000342175.10:c.28451A>G (TTN) ENSP00000340554.6:p.Glu9484Gly
ENST00000342992.10:c.47366A>G (TTN) ENSP00000343764.6:p.Glu15789Gly
ENST00000359218.9:c.28250A>G (TTN) ENSP00000352154.5:p.Glu9417Gly
ENST00000460472.6:c.27875A>G (TTN) ENSP00000434586.1:p.Glu9292Gly
ENST00000589042.5:c.55070A>G (TTN) MANE Select ENSP00000467141.1:p.Glu18357Gly
ENST00000591111.5:c.50147A>G (TTN) ENSP00000465570.1:p.Glu16716Gly
ENST00000615779.4:c.50147A>G (TTN) ENSP00000483597.1:p.Glu16716Gly
NM_001256850.1:c.50147A>G (TTN) NP_001243779.1:p.Glu16716Gly
NM_001267550.2:c.55070A>G (TTN) MANE Select NP_001254479.2:p.Glu18357Gly
NM_003319.4:c.27875A>G (TTN) NP_003310.4:p.Glu9292Gly
NM_133378.4:c.47366A>G (TTN) NP_596869.4:p.Glu15789Gly
NM_133432.3:c.28250A>G (TTN) NP_597676.3:p.Glu9417Gly
NM_133437.4:c.28451A>G (TTN) NP_597681.4:p.Glu9484Gly
NR_038271.1:n.682+4651T>C (TTN-AS1)
NR_038272.1:n.3917+1665T>C (TTN-AS1)
XM_011511729.1:c.54167A>G (TTN) XP_011510031.1:p.Glu18056Gly
XM_011511730.1:c.28061A>G (TTN) XP_011510032.1:p.Glu9354Gly
XM_011511731.1:c.27920A>G (TTN) XP_011510033.1:p.Glu9307Gly
XM_017004819.1:c.53963A>G (TTN) XP_016860308.1:p.Glu17988Gly
XM_017004820.1:c.49361A>G (TTN) XP_016860309.1:p.Glu16454Gly
XM_017004821.1:c.49358A>G (TTN) XP_016860310.1:p.Glu16453Gly
XM_017004822.1:c.46400A>G (TTN) XP_016860311.1:p.Glu15467Gly
XM_017004823.1:c.28016A>G (TTN) XP_016860312.1:p.Glu9339Gly
XM_024453094.1:c.49511A>G (TTN) XP_024308862.1:p.Glu16504Gly
XM_024453095.1:c.49508A>G (TTN) XP_024308863.1:p.Glu16503Gly
XM_024453096.1:c.48941A>G (TTN) XP_024308864.1:p.Glu16314Gly
XM_024453097.1:c.46283A>G (TTN) XP_024308865.1:p.Glu15428Gly
XM_024453098.1:c.46202A>G (TTN) XP_024308866.1:p.Glu15401Gly
XM_024453099.1:c.27965A>G (TTN) XP_024308867.1:p.Glu9322Gly
XM_024453100.1:c.17819A>G (TTN) XP_024308868.1:p.Glu5940Gly