Canonical Allele Identifier: CA349489117

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178548664T>C , CM000664.2:g.178548664T>C GRCh38
NC_000002.11:g.179413391T>C , CM000664.1:g.179413391T>C GRCh37
NC_000002.10:g.179121637T>C NCBI36
NG_011618.3:g.287139A>G , LRG_391:g.287139A>G
NG_051363.1:g.30838T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.85258A>G (TTN) ENSP00000343764.6:p.Arg28420Gly
ENST00000342175.11:c.66343A>G (TTN) ENSP00000340554.6:p.Arg22115Gly
ENST00000359218.10:c.66142A>G (TTN) ENSP00000352154.5:p.Arg22048Gly
ENST00000342175.10:c.66343A>G (TTN) ENSP00000340554.6:p.Arg22115Gly
ENST00000342992.10:c.85258A>G (TTN) ENSP00000343764.6:p.Arg28420Gly
ENST00000359218.9:c.66142A>G (TTN) ENSP00000352154.5:p.Arg22048Gly
ENST00000460472.6:c.65767A>G (TTN) ENSP00000434586.1:p.Arg21923Gly
ENST00000589042.5:c.92962A>G (TTN) MANE Select ENSP00000467141.1:p.Arg30988Gly
ENST00000591111.5:c.88039A>G (TTN) ENSP00000465570.1:p.Arg29347Gly
ENST00000615779.4:c.88039A>G (TTN) ENSP00000483597.1:p.Arg29347Gly
NM_001256850.1:c.88039A>G (TTN) NP_001243779.1:p.Arg29347Gly
NM_001267550.2:c.92962A>G (TTN) MANE Select NP_001254479.2:p.Arg30988Gly
NM_003319.4:c.65767A>G (TTN) NP_003310.4:p.Arg21923Gly
NM_133378.4:c.85258A>G (TTN) NP_596869.4:p.Arg28420Gly
NM_133432.3:c.66142A>G (TTN) NP_597676.3:p.Arg22048Gly
NM_133437.4:c.66343A>G (TTN) NP_597681.4:p.Arg22115Gly
NR_038271.1:n.447-22636T>C (TTN-AS1)
NR_038272.1:n.2043+6303T>C (TTN-AS1)
XM_011511729.1:c.92059A>G (TTN) XP_011510031.1:p.Arg30687Gly
XM_011511730.1:c.65953A>G (TTN) XP_011510032.1:p.Arg21985Gly
XM_011511731.1:c.65812A>G (TTN) XP_011510033.1:p.Arg21938Gly
XM_017004819.1:c.91855A>G (TTN) XP_016860308.1:p.Arg30619Gly
XM_017004820.1:c.87253A>G (TTN) XP_016860309.1:p.Arg29085Gly
XM_017004821.1:c.87250A>G (TTN) XP_016860310.1:p.Arg29084Gly
XM_017004822.1:c.84292A>G (TTN) XP_016860311.1:p.Arg28098Gly
XM_017004823.1:c.65908A>G (TTN) XP_016860312.1:p.Arg21970Gly
XM_024453094.1:c.87403A>G (TTN) XP_024308862.1:p.Arg29135Gly
XM_024453095.1:c.87400A>G (TTN) XP_024308863.1:p.Arg29134Gly
XM_024453096.1:c.86833A>G (TTN) XP_024308864.1:p.Arg28945Gly
XM_024453097.1:c.84175A>G (TTN) XP_024308865.1:p.Arg28059Gly
XM_024453098.1:c.84094A>G (TTN) XP_024308866.1:p.Arg28032Gly
XM_024453099.1:c.65857A>G (TTN) XP_024308867.1:p.Arg21953Gly
XM_024453100.1:c.55711A>G (TTN) XP_024308868.1:p.Arg18571Gly