Canonical Allele Identifier: CA349496231

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549840T>C , CM000664.2:g.178549840T>C GRCh38
NC_000002.11:g.179414567T>C , CM000664.1:g.179414567T>C GRCh37
NC_000002.10:g.179122813T>C NCBI36
NG_011618.3:g.285963A>G , LRG_391:g.285963A>G
NG_051363.1:g.32014T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84178A>G (TTN) ENSP00000343764.6:p.Arg28060Gly
ENST00000342175.11:c.65263A>G (TTN) ENSP00000340554.6:p.Arg21755Gly
ENST00000359218.10:c.65062A>G (TTN) ENSP00000352154.5:p.Arg21688Gly
ENST00000342175.10:c.65263A>G (TTN) ENSP00000340554.6:p.Arg21755Gly
ENST00000342992.10:c.84178A>G (TTN) ENSP00000343764.6:p.Arg28060Gly
ENST00000359218.9:c.65062A>G (TTN) ENSP00000352154.5:p.Arg21688Gly
ENST00000460472.6:c.64687A>G (TTN) ENSP00000434586.1:p.Arg21563Gly
ENST00000589042.5:c.91882A>G (TTN) MANE Select ENSP00000467141.1:p.Arg30628Gly
ENST00000591111.5:c.86959A>G (TTN) ENSP00000465570.1:p.Arg28987Gly
ENST00000615779.4:c.86959A>G (TTN) ENSP00000483597.1:p.Arg28987Gly
NM_001256850.1:c.86959A>G (TTN) NP_001243779.1:p.Arg28987Gly
NM_001267550.2:c.91882A>G (TTN) MANE Select NP_001254479.2:p.Arg30628Gly
NM_003319.4:c.64687A>G (TTN) NP_003310.4:p.Arg21563Gly
NM_133378.4:c.84178A>G (TTN) NP_596869.4:p.Arg28060Gly
NM_133432.3:c.65062A>G (TTN) NP_597676.3:p.Arg21688Gly
NM_133437.4:c.65263A>G (TTN) NP_597681.4:p.Arg21755Gly
NR_038271.1:n.447-21460T>C (TTN-AS1)
NR_038272.1:n.2043+7479T>C (TTN-AS1)
XM_011511729.1:c.90979A>G (TTN) XP_011510031.1:p.Arg30327Gly
XM_011511730.1:c.64873A>G (TTN) XP_011510032.1:p.Arg21625Gly
XM_011511731.1:c.64732A>G (TTN) XP_011510033.1:p.Arg21578Gly
XM_017004819.1:c.90775A>G (TTN) XP_016860308.1:p.Arg30259Gly
XM_017004820.1:c.86173A>G (TTN) XP_016860309.1:p.Arg28725Gly
XM_017004821.1:c.86170A>G (TTN) XP_016860310.1:p.Arg28724Gly
XM_017004822.1:c.83212A>G (TTN) XP_016860311.1:p.Arg27738Gly
XM_017004823.1:c.64828A>G (TTN) XP_016860312.1:p.Arg21610Gly
XM_024453094.1:c.86323A>G (TTN) XP_024308862.1:p.Arg28775Gly
XM_024453095.1:c.86320A>G (TTN) XP_024308863.1:p.Arg28774Gly
XM_024453096.1:c.85753A>G (TTN) XP_024308864.1:p.Arg28585Gly
XM_024453097.1:c.83095A>G (TTN) XP_024308865.1:p.Arg27699Gly
XM_024453098.1:c.83014A>G (TTN) XP_024308866.1:p.Arg27672Gly
XM_024453099.1:c.64777A>G (TTN) XP_024308867.1:p.Arg21593Gly
XM_024453100.1:c.54631A>G (TTN) XP_024308868.1:p.Arg18211Gly