Canonical Allele Identifier: CA349455986

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544305A>G , CM000664.2:g.178544305A>G GRCh38
NC_000002.11:g.179409032A>G , CM000664.1:g.179409032A>G GRCh37
NC_000002.10:g.179117278A>G NCBI36
NG_011618.3:g.291498T>C , LRG_391:g.291498T>C
NG_051363.1:g.26479A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88220T>C (TTN) ENSP00000343764.6:p.Leu29407Pro
ENST00000342175.11:c.69305T>C (TTN) ENSP00000340554.6:p.Leu23102Pro
ENST00000359218.10:c.69104T>C (TTN) ENSP00000352154.5:p.Leu23035Pro
ENST00000342175.10:c.69305T>C (TTN) ENSP00000340554.6:p.Leu23102Pro
ENST00000342992.10:c.88220T>C (TTN) ENSP00000343764.6:p.Leu29407Pro
ENST00000359218.9:c.69104T>C (TTN) ENSP00000352154.5:p.Leu23035Pro
ENST00000460472.6:c.68729T>C (TTN) ENSP00000434586.1:p.Leu22910Pro
ENST00000589042.5:c.95924T>C (TTN) MANE Select ENSP00000467141.1:p.Leu31975Pro
ENST00000591111.5:c.91001T>C (TTN) ENSP00000465570.1:p.Leu30334Pro
ENST00000615779.4:c.91001T>C (TTN) ENSP00000483597.1:p.Leu30334Pro
NM_001256850.1:c.91001T>C (TTN) NP_001243779.1:p.Leu30334Pro
NM_001267550.2:c.95924T>C (TTN) MANE Select NP_001254479.2:p.Leu31975Pro
NM_003319.4:c.68729T>C (TTN) NP_003310.4:p.Leu22910Pro
NM_133378.4:c.88220T>C (TTN) NP_596869.4:p.Leu29407Pro
NM_133432.3:c.69104T>C (TTN) NP_597676.3:p.Leu23035Pro
NM_133437.4:c.69305T>C (TTN) NP_597681.4:p.Leu23102Pro
NR_038271.1:n.446+20669A>G (TTN-AS1)
NR_038272.1:n.2043+1944A>G (TTN-AS1)
XM_011511729.1:c.95021T>C (TTN) XP_011510031.1:p.Leu31674Pro
XM_011511730.1:c.68915T>C (TTN) XP_011510032.1:p.Leu22972Pro
XM_011511731.1:c.68774T>C (TTN) XP_011510033.1:p.Leu22925Pro
XM_017004819.1:c.94817T>C (TTN) XP_016860308.1:p.Leu31606Pro
XM_017004820.1:c.90215T>C (TTN) XP_016860309.1:p.Leu30072Pro
XM_017004821.1:c.90212T>C (TTN) XP_016860310.1:p.Leu30071Pro
XM_017004822.1:c.87254T>C (TTN) XP_016860311.1:p.Leu29085Pro
XM_017004823.1:c.68870T>C (TTN) XP_016860312.1:p.Leu22957Pro
XM_024453094.1:c.90365T>C (TTN) XP_024308862.1:p.Leu30122Pro
XM_024453095.1:c.90362T>C (TTN) XP_024308863.1:p.Leu30121Pro
XM_024453096.1:c.89795T>C (TTN) XP_024308864.1:p.Leu29932Pro
XM_024453097.1:c.87137T>C (TTN) XP_024308865.1:p.Leu29046Pro
XM_024453098.1:c.87056T>C (TTN) XP_024308866.1:p.Leu29019Pro
XM_024453099.1:c.68819T>C (TTN) XP_024308867.1:p.Leu22940Pro
XM_024453100.1:c.58673T>C (TTN) XP_024308868.1:p.Leu19558Pro