Canonical Allele Identifier: CA349471568

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546768C>G , CM000664.2:g.178546768C>G GRCh38
NC_000002.11:g.179411495C>G , CM000664.1:g.179411495C>G GRCh37
NC_000002.10:g.179119741C>G NCBI36
NG_011618.3:g.289035G>C , LRG_391:g.289035G>C
NG_051363.1:g.28942C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86956G>C (TTN) ENSP00000343764.6:p.Gly28986Arg
ENST00000342175.11:c.68041G>C (TTN) ENSP00000340554.6:p.Gly22681Arg
ENST00000359218.10:c.67840G>C (TTN) ENSP00000352154.5:p.Gly22614Arg
ENST00000342175.10:c.68041G>C (TTN) ENSP00000340554.6:p.Gly22681Arg
ENST00000342992.10:c.86956G>C (TTN) ENSP00000343764.6:p.Gly28986Arg
ENST00000359218.9:c.67840G>C (TTN) ENSP00000352154.5:p.Gly22614Arg
ENST00000460472.6:c.67465G>C (TTN) ENSP00000434586.1:p.Gly22489Arg
ENST00000589042.5:c.94660G>C (TTN) MANE Select ENSP00000467141.1:p.Gly31554Arg
ENST00000591111.5:c.89737G>C (TTN) ENSP00000465570.1:p.Gly29913Arg
ENST00000615779.4:c.89737G>C (TTN) ENSP00000483597.1:p.Gly29913Arg
NM_001256850.1:c.89737G>C (TTN) NP_001243779.1:p.Gly29913Arg
NM_001267550.2:c.94660G>C (TTN) MANE Select NP_001254479.2:p.Gly31554Arg
NM_003319.4:c.67465G>C (TTN) NP_003310.4:p.Gly22489Arg
NM_133378.4:c.86956G>C (TTN) NP_596869.4:p.Gly28986Arg
NM_133432.3:c.67840G>C (TTN) NP_597676.3:p.Gly22614Arg
NM_133437.4:c.68041G>C (TTN) NP_597681.4:p.Gly22681Arg
NR_038271.1:n.446+23132C>G (TTN-AS1)
NR_038272.1:n.2043+4407C>G (TTN-AS1)
XM_011511729.1:c.93757G>C (TTN) XP_011510031.1:p.Gly31253Arg
XM_011511730.1:c.67651G>C (TTN) XP_011510032.1:p.Gly22551Arg
XM_011511731.1:c.67510G>C (TTN) XP_011510033.1:p.Gly22504Arg
XM_017004819.1:c.93553G>C (TTN) XP_016860308.1:p.Gly31185Arg
XM_017004820.1:c.88951G>C (TTN) XP_016860309.1:p.Gly29651Arg
XM_017004821.1:c.88948G>C (TTN) XP_016860310.1:p.Gly29650Arg
XM_017004822.1:c.85990G>C (TTN) XP_016860311.1:p.Gly28664Arg
XM_017004823.1:c.67606G>C (TTN) XP_016860312.1:p.Gly22536Arg
XM_024453094.1:c.89101G>C (TTN) XP_024308862.1:p.Gly29701Arg
XM_024453095.1:c.89098G>C (TTN) XP_024308863.1:p.Gly29700Arg
XM_024453096.1:c.88531G>C (TTN) XP_024308864.1:p.Gly29511Arg
XM_024453097.1:c.85873G>C (TTN) XP_024308865.1:p.Gly28625Arg
XM_024453098.1:c.85792G>C (TTN) XP_024308866.1:p.Gly28598Arg
XM_024453099.1:c.67555G>C (TTN) XP_024308867.1:p.Gly22519Arg
XM_024453100.1:c.57409G>C (TTN) XP_024308868.1:p.Gly19137Arg