Canonical Allele Identifier: CA60977136

Linked Data

dbSNP Id: rs796442225

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551747T>C , CM000664.2:g.178551747T>C GRCh38
NC_000002.11:g.179416474T>C , CM000664.1:g.179416474T>C GRCh37
NC_000002.10:g.179124720T>C NCBI36
NG_011618.3:g.284056A>G , LRG_391:g.284056A>G
NG_051363.1:g.33921T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.83449A>G (TTN) ENSP00000343764.6:p.Arg27817Gly
ENST00000342175.11:c.64534A>G (TTN) ENSP00000340554.6:p.Arg21512Gly
ENST00000359218.10:c.64333A>G (TTN) ENSP00000352154.5:p.Arg21445Gly
ENST00000342175.10:c.64534A>G (TTN) ENSP00000340554.6:p.Arg21512Gly
ENST00000342992.10:c.83449A>G (TTN) ENSP00000343764.6:p.Arg27817Gly
ENST00000359218.9:c.64333A>G (TTN) ENSP00000352154.5:p.Arg21445Gly
ENST00000460472.6:c.63958A>G (TTN) ENSP00000434586.1:p.Arg21320Gly
ENST00000589042.5:c.91153A>G (TTN) MANE Select ENSP00000467141.1:p.Arg30385Gly
ENST00000591111.5:c.86230A>G (TTN) ENSP00000465570.1:p.Arg28744Gly
ENST00000615779.4:c.86230A>G (TTN) ENSP00000483597.1:p.Arg28744Gly
NM_001256850.1:c.86230A>G (TTN) NP_001243779.1:p.Arg28744Gly
NM_001267550.2:c.91153A>G (TTN) MANE Select NP_001254479.2:p.Arg30385Gly
NM_003319.4:c.63958A>G (TTN) NP_003310.4:p.Arg21320Gly
NM_133378.4:c.83449A>G (TTN) NP_596869.4:p.Arg27817Gly
NM_133432.3:c.64333A>G (TTN) NP_597676.3:p.Arg21445Gly
NM_133437.4:c.64534A>G (TTN) NP_597681.4:p.Arg21512Gly
NR_038271.1:n.447-19553T>C (TTN-AS1)
NR_038272.1:n.2043+9386T>C (TTN-AS1)
XM_011511729.1:c.90250A>G (TTN) XP_011510031.1:p.Arg30084Gly
XM_011511730.1:c.64144A>G (TTN) XP_011510032.1:p.Arg21382Gly
XM_011511731.1:c.64003A>G (TTN) XP_011510033.1:p.Arg21335Gly
XM_017004819.1:c.90046A>G (TTN) XP_016860308.1:p.Arg30016Gly
XM_017004820.1:c.85444A>G (TTN) XP_016860309.1:p.Arg28482Gly
XM_017004821.1:c.85441A>G (TTN) XP_016860310.1:p.Arg28481Gly
XM_017004822.1:c.82483A>G (TTN) XP_016860311.1:p.Arg27495Gly
XM_017004823.1:c.64099A>G (TTN) XP_016860312.1:p.Arg21367Gly
XM_024453094.1:c.85594A>G (TTN) XP_024308862.1:p.Arg28532Gly
XM_024453095.1:c.85591A>G (TTN) XP_024308863.1:p.Arg28531Gly
XM_024453096.1:c.85024A>G (TTN) XP_024308864.1:p.Arg28342Gly
XM_024453097.1:c.82366A>G (TTN) XP_024308865.1:p.Arg27456Gly
XM_024453098.1:c.82285A>G (TTN) XP_024308866.1:p.Arg27429Gly
XM_024453099.1:c.64048A>G (TTN) XP_024308867.1:p.Arg21350Gly
XM_024453100.1:c.53902A>G (TTN) XP_024308868.1:p.Arg17968Gly