Canonical Allele Identifier: CA349609000

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178615368C>A , CM000664.2:g.178615368C>A GRCh38
NC_000002.11:g.179480095C>A , CM000664.1:g.179480095C>A GRCh37
NC_000002.10:g.179188340C>A NCBI36
NG_011618.3:g.220435G>T , LRG_391:g.220435G>T
NG_051363.1:g.97542C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.40873G>T (TTN) ENSP00000343764.6:p.Glu13625Ter
ENST00000342175.11:c.21958G>T (TTN) ENSP00000340554.6:p.Glu7320Ter
ENST00000359218.10:c.21757G>T (TTN) ENSP00000352154.5:p.Glu7253Ter
ENST00000342175.10:c.21958G>T (TTN) ENSP00000340554.6:p.Glu7320Ter
ENST00000342992.10:c.40873G>T (TTN) ENSP00000343764.6:p.Glu13625Ter
ENST00000359218.9:c.21757G>T (TTN) ENSP00000352154.5:p.Glu7253Ter
ENST00000460472.6:c.21382G>T (TTN) ENSP00000434586.1:p.Glu7128Ter
ENST00000589042.5:c.48577G>T (TTN) MANE Select ENSP00000467141.1:p.Glu16193Ter
ENST00000591111.5:c.43654G>T (TTN) ENSP00000465570.1:p.Glu14552Ter
ENST00000615779.4:c.43654G>T (TTN) ENSP00000483597.1:p.Glu14552Ter
NM_001256850.1:c.43654G>T (TTN) NP_001243779.1:p.Glu14552Ter
NM_001267550.2:c.48577G>T (TTN) MANE Select NP_001254479.2:p.Glu16193Ter
NM_003319.4:c.21382G>T (TTN) NP_003310.4:p.Glu7128Ter
NM_133378.4:c.40873G>T (TTN) NP_596869.4:p.Glu13625Ter
NM_133432.3:c.21757G>T (TTN) NP_597676.3:p.Glu7253Ter
NM_133437.4:c.21958G>T (TTN) NP_597681.4:p.Glu7320Ter
NR_038271.1:n.1598C>A (TTN-AS1)
XM_011511729.1:c.47674G>T (TTN) XP_011510031.1:p.Glu15892Ter
XM_011511730.1:c.21568G>T (TTN) XP_011510032.1:p.Glu7190Ter
XM_011511731.1:c.21427G>T (TTN) XP_011510033.1:p.Glu7143Ter
XM_017004819.1:c.47470G>T (TTN) XP_016860308.1:p.Glu15824Ter
XM_017004820.1:c.42868G>T (TTN) XP_016860309.1:p.Glu14290Ter
XM_017004821.1:c.42865G>T (TTN) XP_016860310.1:p.Glu14289Ter
XM_017004822.1:c.39907G>T (TTN) XP_016860311.1:p.Glu13303Ter
XM_017004823.1:c.21523G>T (TTN) XP_016860312.1:p.Glu7175Ter
XM_024453094.1:c.43018G>T (TTN) XP_024308862.1:p.Glu14340Ter
XM_024453095.1:c.43015G>T (TTN) XP_024308863.1:p.Glu14339Ter
XM_024453096.1:c.42448G>T (TTN) XP_024308864.1:p.Glu14150Ter
XM_024453097.1:c.39790G>T (TTN) XP_024308865.1:p.Glu13264Ter
XM_024453098.1:c.39709G>T (TTN) XP_024308866.1:p.Glu13237Ter
XM_024453099.1:c.21472G>T (TTN) XP_024308867.1:p.Glu7158Ter
XM_024453100.1:c.11326G>T (TTN) XP_024308868.1:p.Glu3776Ter