Canonical Allele Identifier: CA349456798

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544377T>C , CM000664.2:g.178544377T>C GRCh38
NC_000002.11:g.179409104T>C , CM000664.1:g.179409104T>C GRCh37
NC_000002.10:g.179117350T>C NCBI36
NG_011618.3:g.291426A>G , LRG_391:g.291426A>G
NG_051363.1:g.26551T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88148A>G (TTN) ENSP00000343764.6:p.Lys29383Arg
ENST00000342175.11:c.69233A>G (TTN) ENSP00000340554.6:p.Lys23078Arg
ENST00000359218.10:c.69032A>G (TTN) ENSP00000352154.5:p.Lys23011Arg
ENST00000342175.10:c.69233A>G (TTN) ENSP00000340554.6:p.Lys23078Arg
ENST00000342992.10:c.88148A>G (TTN) ENSP00000343764.6:p.Lys29383Arg
ENST00000359218.9:c.69032A>G (TTN) ENSP00000352154.5:p.Lys23011Arg
ENST00000460472.6:c.68657A>G (TTN) ENSP00000434586.1:p.Lys22886Arg
ENST00000589042.5:c.95852A>G (TTN) MANE Select ENSP00000467141.1:p.Lys31951Arg
ENST00000591111.5:c.90929A>G (TTN) ENSP00000465570.1:p.Lys30310Arg
ENST00000615779.4:c.90929A>G (TTN) ENSP00000483597.1:p.Lys30310Arg
NM_001256850.1:c.90929A>G (TTN) NP_001243779.1:p.Lys30310Arg
NM_001267550.2:c.95852A>G (TTN) MANE Select NP_001254479.2:p.Lys31951Arg
NM_003319.4:c.68657A>G (TTN) NP_003310.4:p.Lys22886Arg
NM_133378.4:c.88148A>G (TTN) NP_596869.4:p.Lys29383Arg
NM_133432.3:c.69032A>G (TTN) NP_597676.3:p.Lys23011Arg
NM_133437.4:c.69233A>G (TTN) NP_597681.4:p.Lys23078Arg
NR_038271.1:n.446+20741T>C (TTN-AS1)
NR_038272.1:n.2043+2016T>C (TTN-AS1)
XM_011511729.1:c.94949A>G (TTN) XP_011510031.1:p.Lys31650Arg
XM_011511730.1:c.68843A>G (TTN) XP_011510032.1:p.Lys22948Arg
XM_011511731.1:c.68702A>G (TTN) XP_011510033.1:p.Lys22901Arg
XM_017004819.1:c.94745A>G (TTN) XP_016860308.1:p.Lys31582Arg
XM_017004820.1:c.90143A>G (TTN) XP_016860309.1:p.Lys30048Arg
XM_017004821.1:c.90140A>G (TTN) XP_016860310.1:p.Lys30047Arg
XM_017004822.1:c.87182A>G (TTN) XP_016860311.1:p.Lys29061Arg
XM_017004823.1:c.68798A>G (TTN) XP_016860312.1:p.Lys22933Arg
XM_024453094.1:c.90293A>G (TTN) XP_024308862.1:p.Lys30098Arg
XM_024453095.1:c.90290A>G (TTN) XP_024308863.1:p.Lys30097Arg
XM_024453096.1:c.89723A>G (TTN) XP_024308864.1:p.Lys29908Arg
XM_024453097.1:c.87065A>G (TTN) XP_024308865.1:p.Lys29022Arg
XM_024453098.1:c.86984A>G (TTN) XP_024308866.1:p.Lys28995Arg
XM_024453099.1:c.68747A>G (TTN) XP_024308867.1:p.Lys22916Arg
XM_024453100.1:c.58601A>G (TTN) XP_024308868.1:p.Lys19534Arg