Canonical Allele Identifier: CA349466313

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546221T>C , CM000664.2:g.178546221T>C GRCh38
NC_000002.11:g.179410948T>C , CM000664.1:g.179410948T>C GRCh37
NC_000002.10:g.179119194T>C NCBI36
NG_011618.3:g.289582A>G , LRG_391:g.289582A>G
NG_051363.1:g.28395T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87406A>G (TTN) ENSP00000343764.6:p.Lys29136Glu
ENST00000342175.11:c.68491A>G (TTN) ENSP00000340554.6:p.Lys22831Glu
ENST00000359218.10:c.68290A>G (TTN) ENSP00000352154.5:p.Lys22764Glu
ENST00000342175.10:c.68491A>G (TTN) ENSP00000340554.6:p.Lys22831Glu
ENST00000342992.10:c.87406A>G (TTN) ENSP00000343764.6:p.Lys29136Glu
ENST00000359218.9:c.68290A>G (TTN) ENSP00000352154.5:p.Lys22764Glu
ENST00000460472.6:c.67915A>G (TTN) ENSP00000434586.1:p.Lys22639Glu
ENST00000589042.5:c.95110A>G (TTN) MANE Select ENSP00000467141.1:p.Lys31704Glu
ENST00000591111.5:c.90187A>G (TTN) ENSP00000465570.1:p.Lys30063Glu
ENST00000615779.4:c.90187A>G (TTN) ENSP00000483597.1:p.Lys30063Glu
NM_001256850.1:c.90187A>G (TTN) NP_001243779.1:p.Lys30063Glu
NM_001267550.2:c.95110A>G (TTN) MANE Select NP_001254479.2:p.Lys31704Glu
NM_003319.4:c.67915A>G (TTN) NP_003310.4:p.Lys22639Glu
NM_133378.4:c.87406A>G (TTN) NP_596869.4:p.Lys29136Glu
NM_133432.3:c.68290A>G (TTN) NP_597676.3:p.Lys22764Glu
NM_133437.4:c.68491A>G (TTN) NP_597681.4:p.Lys22831Glu
NR_038271.1:n.446+22585T>C (TTN-AS1)
NR_038272.1:n.2043+3860T>C (TTN-AS1)
XM_011511729.1:c.94207A>G (TTN) XP_011510031.1:p.Lys31403Glu
XM_011511730.1:c.68101A>G (TTN) XP_011510032.1:p.Lys22701Glu
XM_011511731.1:c.67960A>G (TTN) XP_011510033.1:p.Lys22654Glu
XM_017004819.1:c.94003A>G (TTN) XP_016860308.1:p.Lys31335Glu
XM_017004820.1:c.89401A>G (TTN) XP_016860309.1:p.Lys29801Glu
XM_017004821.1:c.89398A>G (TTN) XP_016860310.1:p.Lys29800Glu
XM_017004822.1:c.86440A>G (TTN) XP_016860311.1:p.Lys28814Glu
XM_017004823.1:c.68056A>G (TTN) XP_016860312.1:p.Lys22686Glu
XM_024453094.1:c.89551A>G (TTN) XP_024308862.1:p.Lys29851Glu
XM_024453095.1:c.89548A>G (TTN) XP_024308863.1:p.Lys29850Glu
XM_024453096.1:c.88981A>G (TTN) XP_024308864.1:p.Lys29661Glu
XM_024453097.1:c.86323A>G (TTN) XP_024308865.1:p.Lys28775Glu
XM_024453098.1:c.86242A>G (TTN) XP_024308866.1:p.Lys28748Glu
XM_024453099.1:c.68005A>G (TTN) XP_024308867.1:p.Lys22669Glu
XM_024453100.1:c.57859A>G (TTN) XP_024308868.1:p.Lys19287Glu