Canonical Allele Identifier: CA349611900

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568925T>C , CM000664.2:g.178568925T>C GRCh38
NC_000002.11:g.179433652T>C , CM000664.1:g.179433652T>C GRCh37
NC_000002.10:g.179141898T>C NCBI36
NG_011618.3:g.266878A>G , LRG_391:g.266878A>G
NG_051363.1:g.51099T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.69503A>G (TTN) ENSP00000343764.6:p.Glu23168Gly
ENST00000342175.11:c.50588A>G (TTN) ENSP00000340554.6:p.Glu16863Gly
ENST00000359218.10:c.50387A>G (TTN) ENSP00000352154.5:p.Glu16796Gly
ENST00000342175.10:c.50588A>G (TTN) ENSP00000340554.6:p.Glu16863Gly
ENST00000342992.10:c.69503A>G (TTN) ENSP00000343764.6:p.Glu23168Gly
ENST00000359218.9:c.50387A>G (TTN) ENSP00000352154.5:p.Glu16796Gly
ENST00000460472.6:c.50012A>G (TTN) ENSP00000434586.1:p.Glu16671Gly
ENST00000589042.5:c.77207A>G (TTN) MANE Select ENSP00000467141.1:p.Glu25736Gly
ENST00000591111.5:c.72284A>G (TTN) ENSP00000465570.1:p.Glu24095Gly
ENST00000615779.4:c.72284A>G (TTN) ENSP00000483597.1:p.Glu24095Gly
NM_001256850.1:c.72284A>G (TTN) NP_001243779.1:p.Glu24095Gly
NM_001267550.2:c.77207A>G (TTN) MANE Select NP_001254479.2:p.Glu25736Gly
NM_003319.4:c.50012A>G (TTN) NP_003310.4:p.Glu16671Gly
NM_133378.4:c.69503A>G (TTN) NP_596869.4:p.Glu23168Gly
NM_133432.3:c.50387A>G (TTN) NP_597676.3:p.Glu16796Gly
NM_133437.4:c.50588A>G (TTN) NP_597681.4:p.Glu16863Gly
NR_038271.1:n.447-2375T>C (TTN-AS1)
NR_038272.1:n.2044-13647T>C (TTN-AS1)
XM_011511729.1:c.76304A>G (TTN) XP_011510031.1:p.Glu25435Gly
XM_011511730.1:c.50198A>G (TTN) XP_011510032.1:p.Glu16733Gly
XM_011511731.1:c.50057A>G (TTN) XP_011510033.1:p.Glu16686Gly
XM_017004819.1:c.76100A>G (TTN) XP_016860308.1:p.Glu25367Gly
XM_017004820.1:c.71498A>G (TTN) XP_016860309.1:p.Glu23833Gly
XM_017004821.1:c.71495A>G (TTN) XP_016860310.1:p.Glu23832Gly
XM_017004822.1:c.68537A>G (TTN) XP_016860311.1:p.Glu22846Gly
XM_017004823.1:c.50153A>G (TTN) XP_016860312.1:p.Glu16718Gly
XM_024453094.1:c.71648A>G (TTN) XP_024308862.1:p.Glu23883Gly
XM_024453095.1:c.71645A>G (TTN) XP_024308863.1:p.Glu23882Gly
XM_024453096.1:c.71078A>G (TTN) XP_024308864.1:p.Glu23693Gly
XM_024453097.1:c.68420A>G (TTN) XP_024308865.1:p.Glu22807Gly
XM_024453098.1:c.68339A>G (TTN) XP_024308866.1:p.Glu22780Gly
XM_024453099.1:c.50102A>G (TTN) XP_024308867.1:p.Glu16701Gly
XM_024453100.1:c.39956A>G (TTN) XP_024308868.1:p.Glu13319Gly