Canonical Allele Identifier: CA349451263

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543931T>C , CM000664.2:g.178543931T>C GRCh38
NC_000002.11:g.179408658T>C , CM000664.1:g.179408658T>C GRCh37
NC_000002.10:g.179116904T>C NCBI36
NG_011618.3:g.291872A>G , LRG_391:g.291872A>G
NG_051363.1:g.26105T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88509A>G (TTN) ENSP00000343764.6:p.Ile29503Met
ENST00000342175.11:c.69594A>G (TTN) ENSP00000340554.6:p.Ile23198Met
ENST00000359218.10:c.69393A>G (TTN) ENSP00000352154.5:p.Ile23131Met
ENST00000342175.10:c.69594A>G (TTN) ENSP00000340554.6:p.Ile23198Met
ENST00000342992.10:c.88509A>G (TTN) ENSP00000343764.6:p.Ile29503Met
ENST00000359218.9:c.69393A>G (TTN) ENSP00000352154.5:p.Ile23131Met
ENST00000460472.6:c.69018A>G (TTN) ENSP00000434586.1:p.Ile23006Met
ENST00000589042.5:c.96213A>G (TTN) MANE Select ENSP00000467141.1:p.Ile32071Met
ENST00000591111.5:c.91290A>G (TTN) ENSP00000465570.1:p.Ile30430Met
ENST00000615779.4:c.91290A>G (TTN) ENSP00000483597.1:p.Ile30430Met
NM_001256850.1:c.91290A>G (TTN) NP_001243779.1:p.Ile30430Met
NM_001267550.2:c.96213A>G (TTN) MANE Select NP_001254479.2:p.Ile32071Met
NM_003319.4:c.69018A>G (TTN) NP_003310.4:p.Ile23006Met
NM_133378.4:c.88509A>G (TTN) NP_596869.4:p.Ile29503Met
NM_133432.3:c.69393A>G (TTN) NP_597676.3:p.Ile23131Met
NM_133437.4:c.69594A>G (TTN) NP_597681.4:p.Ile23198Met
NR_038271.1:n.446+20295T>C (TTN-AS1)
NR_038272.1:n.2043+1570T>C (TTN-AS1)
XM_011511729.1:c.95310A>G (TTN) XP_011510031.1:p.Ile31770Met
XM_011511730.1:c.69204A>G (TTN) XP_011510032.1:p.Ile23068Met
XM_011511731.1:c.69063A>G (TTN) XP_011510033.1:p.Ile23021Met
XM_017004819.1:c.95106A>G (TTN) XP_016860308.1:p.Ile31702Met
XM_017004820.1:c.90504A>G (TTN) XP_016860309.1:p.Ile30168Met
XM_017004821.1:c.90501A>G (TTN) XP_016860310.1:p.Ile30167Met
XM_017004822.1:c.87543A>G (TTN) XP_016860311.1:p.Ile29181Met
XM_017004823.1:c.69159A>G (TTN) XP_016860312.1:p.Ile23053Met
XM_024453094.1:c.90654A>G (TTN) XP_024308862.1:p.Ile30218Met
XM_024453095.1:c.90651A>G (TTN) XP_024308863.1:p.Ile30217Met
XM_024453096.1:c.90084A>G (TTN) XP_024308864.1:p.Ile30028Met
XM_024453097.1:c.87426A>G (TTN) XP_024308865.1:p.Ile29142Met
XM_024453098.1:c.87345A>G (TTN) XP_024308866.1:p.Ile29115Met
XM_024453099.1:c.69108A>G (TTN) XP_024308867.1:p.Ile23036Met
XM_024453100.1:c.58962A>G (TTN) XP_024308868.1:p.Ile19654Met