Canonical Allele Identifier: CA349456558

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544357G>C , CM000664.2:g.178544357G>C GRCh38
NC_000002.11:g.179409084G>C , CM000664.1:g.179409084G>C GRCh37
NC_000002.10:g.179117330G>C NCBI36
NG_011618.3:g.291446C>G , LRG_391:g.291446C>G
NG_051363.1:g.26531G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88168C>G (TTN) ENSP00000343764.6:p.Arg29390Gly
ENST00000342175.11:c.69253C>G (TTN) ENSP00000340554.6:p.Arg23085Gly
ENST00000359218.10:c.69052C>G (TTN) ENSP00000352154.5:p.Arg23018Gly
ENST00000342175.10:c.69253C>G (TTN) ENSP00000340554.6:p.Arg23085Gly
ENST00000342992.10:c.88168C>G (TTN) ENSP00000343764.6:p.Arg29390Gly
ENST00000359218.9:c.69052C>G (TTN) ENSP00000352154.5:p.Arg23018Gly
ENST00000460472.6:c.68677C>G (TTN) ENSP00000434586.1:p.Arg22893Gly
ENST00000589042.5:c.95872C>G (TTN) MANE Select ENSP00000467141.1:p.Arg31958Gly
ENST00000591111.5:c.90949C>G (TTN) ENSP00000465570.1:p.Arg30317Gly
ENST00000615779.4:c.90949C>G (TTN) ENSP00000483597.1:p.Arg30317Gly
NM_001256850.1:c.90949C>G (TTN) NP_001243779.1:p.Arg30317Gly
NM_001267550.2:c.95872C>G (TTN) MANE Select NP_001254479.2:p.Arg31958Gly
NM_003319.4:c.68677C>G (TTN) NP_003310.4:p.Arg22893Gly
NM_133378.4:c.88168C>G (TTN) NP_596869.4:p.Arg29390Gly
NM_133432.3:c.69052C>G (TTN) NP_597676.3:p.Arg23018Gly
NM_133437.4:c.69253C>G (TTN) NP_597681.4:p.Arg23085Gly
NR_038271.1:n.446+20721G>C (TTN-AS1)
NR_038272.1:n.2043+1996G>C (TTN-AS1)
XM_011511729.1:c.94969C>G (TTN) XP_011510031.1:p.Arg31657Gly
XM_011511730.1:c.68863C>G (TTN) XP_011510032.1:p.Arg22955Gly
XM_011511731.1:c.68722C>G (TTN) XP_011510033.1:p.Arg22908Gly
XM_017004819.1:c.94765C>G (TTN) XP_016860308.1:p.Arg31589Gly
XM_017004820.1:c.90163C>G (TTN) XP_016860309.1:p.Arg30055Gly
XM_017004821.1:c.90160C>G (TTN) XP_016860310.1:p.Arg30054Gly
XM_017004822.1:c.87202C>G (TTN) XP_016860311.1:p.Arg29068Gly
XM_017004823.1:c.68818C>G (TTN) XP_016860312.1:p.Arg22940Gly
XM_024453094.1:c.90313C>G (TTN) XP_024308862.1:p.Arg30105Gly
XM_024453095.1:c.90310C>G (TTN) XP_024308863.1:p.Arg30104Gly
XM_024453096.1:c.89743C>G (TTN) XP_024308864.1:p.Arg29915Gly
XM_024453097.1:c.87085C>G (TTN) XP_024308865.1:p.Arg29029Gly
XM_024453098.1:c.87004C>G (TTN) XP_024308866.1:p.Arg29002Gly
XM_024453099.1:c.68767C>G (TTN) XP_024308867.1:p.Arg22923Gly
XM_024453100.1:c.58621C>G (TTN) XP_024308868.1:p.Arg19541Gly