Canonical Allele Identifier: CA349496257

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549842A>C , CM000664.2:g.178549842A>C GRCh38
NC_000002.11:g.179414569A>C , CM000664.1:g.179414569A>C GRCh37
NC_000002.10:g.179122815A>C NCBI36
NG_011618.3:g.285961T>G , LRG_391:g.285961T>G
NG_051363.1:g.32016A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84176T>G (TTN) ENSP00000343764.6:p.Ile28059Arg
ENST00000342175.11:c.65261T>G (TTN) ENSP00000340554.6:p.Ile21754Arg
ENST00000359218.10:c.65060T>G (TTN) ENSP00000352154.5:p.Ile21687Arg
ENST00000342175.10:c.65261T>G (TTN) ENSP00000340554.6:p.Ile21754Arg
ENST00000342992.10:c.84176T>G (TTN) ENSP00000343764.6:p.Ile28059Arg
ENST00000359218.9:c.65060T>G (TTN) ENSP00000352154.5:p.Ile21687Arg
ENST00000460472.6:c.64685T>G (TTN) ENSP00000434586.1:p.Ile21562Arg
ENST00000589042.5:c.91880T>G (TTN) MANE Select ENSP00000467141.1:p.Ile30627Arg
ENST00000591111.5:c.86957T>G (TTN) ENSP00000465570.1:p.Ile28986Arg
ENST00000615779.4:c.86957T>G (TTN) ENSP00000483597.1:p.Ile28986Arg
NM_001256850.1:c.86957T>G (TTN) NP_001243779.1:p.Ile28986Arg
NM_001267550.2:c.91880T>G (TTN) MANE Select NP_001254479.2:p.Ile30627Arg
NM_003319.4:c.64685T>G (TTN) NP_003310.4:p.Ile21562Arg
NM_133378.4:c.84176T>G (TTN) NP_596869.4:p.Ile28059Arg
NM_133432.3:c.65060T>G (TTN) NP_597676.3:p.Ile21687Arg
NM_133437.4:c.65261T>G (TTN) NP_597681.4:p.Ile21754Arg
NR_038271.1:n.447-21458A>C (TTN-AS1)
NR_038272.1:n.2043+7481A>C (TTN-AS1)
XM_011511729.1:c.90977T>G (TTN) XP_011510031.1:p.Ile30326Arg
XM_011511730.1:c.64871T>G (TTN) XP_011510032.1:p.Ile21624Arg
XM_011511731.1:c.64730T>G (TTN) XP_011510033.1:p.Ile21577Arg
XM_017004819.1:c.90773T>G (TTN) XP_016860308.1:p.Ile30258Arg
XM_017004820.1:c.86171T>G (TTN) XP_016860309.1:p.Ile28724Arg
XM_017004821.1:c.86168T>G (TTN) XP_016860310.1:p.Ile28723Arg
XM_017004822.1:c.83210T>G (TTN) XP_016860311.1:p.Ile27737Arg
XM_017004823.1:c.64826T>G (TTN) XP_016860312.1:p.Ile21609Arg
XM_024453094.1:c.86321T>G (TTN) XP_024308862.1:p.Ile28774Arg
XM_024453095.1:c.86318T>G (TTN) XP_024308863.1:p.Ile28773Arg
XM_024453096.1:c.85751T>G (TTN) XP_024308864.1:p.Ile28584Arg
XM_024453097.1:c.83093T>G (TTN) XP_024308865.1:p.Ile27698Arg
XM_024453098.1:c.83012T>G (TTN) XP_024308866.1:p.Ile27671Arg
XM_024453099.1:c.64775T>G (TTN) XP_024308867.1:p.Ile21592Arg
XM_024453100.1:c.54629T>G (TTN) XP_024308868.1:p.Ile18210Arg