Canonical Allele Identifier: CA349451295

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543935A>G , CM000664.2:g.178543935A>G GRCh38
NC_000002.11:g.179408662A>G , CM000664.1:g.179408662A>G GRCh37
NC_000002.10:g.179116908A>G NCBI36
NG_011618.3:g.291868T>C , LRG_391:g.291868T>C
NG_051363.1:g.26109A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88505T>C (TTN) ENSP00000343764.6:p.Leu29502Pro
ENST00000342175.11:c.69590T>C (TTN) ENSP00000340554.6:p.Leu23197Pro
ENST00000359218.10:c.69389T>C (TTN) ENSP00000352154.5:p.Leu23130Pro
ENST00000342175.10:c.69590T>C (TTN) ENSP00000340554.6:p.Leu23197Pro
ENST00000342992.10:c.88505T>C (TTN) ENSP00000343764.6:p.Leu29502Pro
ENST00000359218.9:c.69389T>C (TTN) ENSP00000352154.5:p.Leu23130Pro
ENST00000460472.6:c.69014T>C (TTN) ENSP00000434586.1:p.Leu23005Pro
ENST00000589042.5:c.96209T>C (TTN) MANE Select ENSP00000467141.1:p.Leu32070Pro
ENST00000591111.5:c.91286T>C (TTN) ENSP00000465570.1:p.Leu30429Pro
ENST00000615779.4:c.91286T>C (TTN) ENSP00000483597.1:p.Leu30429Pro
NM_001256850.1:c.91286T>C (TTN) NP_001243779.1:p.Leu30429Pro
NM_001267550.2:c.96209T>C (TTN) MANE Select NP_001254479.2:p.Leu32070Pro
NM_003319.4:c.69014T>C (TTN) NP_003310.4:p.Leu23005Pro
NM_133378.4:c.88505T>C (TTN) NP_596869.4:p.Leu29502Pro
NM_133432.3:c.69389T>C (TTN) NP_597676.3:p.Leu23130Pro
NM_133437.4:c.69590T>C (TTN) NP_597681.4:p.Leu23197Pro
NR_038271.1:n.446+20299A>G (TTN-AS1)
NR_038272.1:n.2043+1574A>G (TTN-AS1)
XM_011511729.1:c.95306T>C (TTN) XP_011510031.1:p.Leu31769Pro
XM_011511730.1:c.69200T>C (TTN) XP_011510032.1:p.Leu23067Pro
XM_011511731.1:c.69059T>C (TTN) XP_011510033.1:p.Leu23020Pro
XM_017004819.1:c.95102T>C (TTN) XP_016860308.1:p.Leu31701Pro
XM_017004820.1:c.90500T>C (TTN) XP_016860309.1:p.Leu30167Pro
XM_017004821.1:c.90497T>C (TTN) XP_016860310.1:p.Leu30166Pro
XM_017004822.1:c.87539T>C (TTN) XP_016860311.1:p.Leu29180Pro
XM_017004823.1:c.69155T>C (TTN) XP_016860312.1:p.Leu23052Pro
XM_024453094.1:c.90650T>C (TTN) XP_024308862.1:p.Leu30217Pro
XM_024453095.1:c.90647T>C (TTN) XP_024308863.1:p.Leu30216Pro
XM_024453096.1:c.90080T>C (TTN) XP_024308864.1:p.Leu30027Pro
XM_024453097.1:c.87422T>C (TTN) XP_024308865.1:p.Leu29141Pro
XM_024453098.1:c.87341T>C (TTN) XP_024308866.1:p.Leu29114Pro
XM_024453099.1:c.69104T>C (TTN) XP_024308867.1:p.Leu23035Pro
XM_024453100.1:c.58958T>C (TTN) XP_024308868.1:p.Leu19653Pro