Canonical Allele Identifier: CA349495890

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549806A>C , CM000664.2:g.178549806A>C GRCh38
NC_000002.11:g.179414533A>C , CM000664.1:g.179414533A>C GRCh37
NC_000002.10:g.179122779A>C NCBI36
NG_011618.3:g.285997T>G , LRG_391:g.285997T>G
NG_051363.1:g.31980A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84212T>G (TTN) ENSP00000343764.6:p.Leu28071Arg
ENST00000342175.11:c.65297T>G (TTN) ENSP00000340554.6:p.Leu21766Arg
ENST00000359218.10:c.65096T>G (TTN) ENSP00000352154.5:p.Leu21699Arg
ENST00000342175.10:c.65297T>G (TTN) ENSP00000340554.6:p.Leu21766Arg
ENST00000342992.10:c.84212T>G (TTN) ENSP00000343764.6:p.Leu28071Arg
ENST00000359218.9:c.65096T>G (TTN) ENSP00000352154.5:p.Leu21699Arg
ENST00000460472.6:c.64721T>G (TTN) ENSP00000434586.1:p.Leu21574Arg
ENST00000589042.5:c.91916T>G (TTN) MANE Select ENSP00000467141.1:p.Leu30639Arg
ENST00000591111.5:c.86993T>G (TTN) ENSP00000465570.1:p.Leu28998Arg
ENST00000615779.4:c.86993T>G (TTN) ENSP00000483597.1:p.Leu28998Arg
NM_001256850.1:c.86993T>G (TTN) NP_001243779.1:p.Leu28998Arg
NM_001267550.2:c.91916T>G (TTN) MANE Select NP_001254479.2:p.Leu30639Arg
NM_003319.4:c.64721T>G (TTN) NP_003310.4:p.Leu21574Arg
NM_133378.4:c.84212T>G (TTN) NP_596869.4:p.Leu28071Arg
NM_133432.3:c.65096T>G (TTN) NP_597676.3:p.Leu21699Arg
NM_133437.4:c.65297T>G (TTN) NP_597681.4:p.Leu21766Arg
NR_038271.1:n.447-21494A>C (TTN-AS1)
NR_038272.1:n.2043+7445A>C (TTN-AS1)
XM_011511729.1:c.91013T>G (TTN) XP_011510031.1:p.Leu30338Arg
XM_011511730.1:c.64907T>G (TTN) XP_011510032.1:p.Leu21636Arg
XM_011511731.1:c.64766T>G (TTN) XP_011510033.1:p.Leu21589Arg
XM_017004819.1:c.90809T>G (TTN) XP_016860308.1:p.Leu30270Arg
XM_017004820.1:c.86207T>G (TTN) XP_016860309.1:p.Leu28736Arg
XM_017004821.1:c.86204T>G (TTN) XP_016860310.1:p.Leu28735Arg
XM_017004822.1:c.83246T>G (TTN) XP_016860311.1:p.Leu27749Arg
XM_017004823.1:c.64862T>G (TTN) XP_016860312.1:p.Leu21621Arg
XM_024453094.1:c.86357T>G (TTN) XP_024308862.1:p.Leu28786Arg
XM_024453095.1:c.86354T>G (TTN) XP_024308863.1:p.Leu28785Arg
XM_024453096.1:c.85787T>G (TTN) XP_024308864.1:p.Leu28596Arg
XM_024453097.1:c.83129T>G (TTN) XP_024308865.1:p.Leu27710Arg
XM_024453098.1:c.83048T>G (TTN) XP_024308866.1:p.Leu27683Arg
XM_024453099.1:c.64811T>G (TTN) XP_024308867.1:p.Leu21604Arg
XM_024453100.1:c.54665T>G (TTN) XP_024308868.1:p.Leu18222Arg