Canonical Allele Identifier: CA349451087

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543914C>G , CM000664.2:g.178543914C>G GRCh38
NC_000002.11:g.179408641C>G , CM000664.1:g.179408641C>G GRCh37
NC_000002.10:g.179116887C>G NCBI36
NG_011618.3:g.291889G>C , LRG_391:g.291889G>C
NG_051363.1:g.26088C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88526G>C (TTN) ENSP00000343764.6:p.Arg29509Pro
ENST00000342175.11:c.69611G>C (TTN) ENSP00000340554.6:p.Arg23204Pro
ENST00000359218.10:c.69410G>C (TTN) ENSP00000352154.5:p.Arg23137Pro
ENST00000342175.10:c.69611G>C (TTN) ENSP00000340554.6:p.Arg23204Pro
ENST00000342992.10:c.88526G>C (TTN) ENSP00000343764.6:p.Arg29509Pro
ENST00000359218.9:c.69410G>C (TTN) ENSP00000352154.5:p.Arg23137Pro
ENST00000460472.6:c.69035G>C (TTN) ENSP00000434586.1:p.Arg23012Pro
ENST00000589042.5:c.96230G>C (TTN) MANE Select ENSP00000467141.1:p.Arg32077Pro
ENST00000591111.5:c.91307G>C (TTN) ENSP00000465570.1:p.Arg30436Pro
ENST00000615779.4:c.91307G>C (TTN) ENSP00000483597.1:p.Arg30436Pro
NM_001256850.1:c.91307G>C (TTN) NP_001243779.1:p.Arg30436Pro
NM_001267550.2:c.96230G>C (TTN) MANE Select NP_001254479.2:p.Arg32077Pro
NM_003319.4:c.69035G>C (TTN) NP_003310.4:p.Arg23012Pro
NM_133378.4:c.88526G>C (TTN) NP_596869.4:p.Arg29509Pro
NM_133432.3:c.69410G>C (TTN) NP_597676.3:p.Arg23137Pro
NM_133437.4:c.69611G>C (TTN) NP_597681.4:p.Arg23204Pro
NR_038271.1:n.446+20278C>G (TTN-AS1)
NR_038272.1:n.2043+1553C>G (TTN-AS1)
XM_011511729.1:c.95327G>C (TTN) XP_011510031.1:p.Arg31776Pro
XM_011511730.1:c.69221G>C (TTN) XP_011510032.1:p.Arg23074Pro
XM_011511731.1:c.69080G>C (TTN) XP_011510033.1:p.Arg23027Pro
XM_017004819.1:c.95123G>C (TTN) XP_016860308.1:p.Arg31708Pro
XM_017004820.1:c.90521G>C (TTN) XP_016860309.1:p.Arg30174Pro
XM_017004821.1:c.90518G>C (TTN) XP_016860310.1:p.Arg30173Pro
XM_017004822.1:c.87560G>C (TTN) XP_016860311.1:p.Arg29187Pro
XM_017004823.1:c.69176G>C (TTN) XP_016860312.1:p.Arg23059Pro
XM_024453094.1:c.90671G>C (TTN) XP_024308862.1:p.Arg30224Pro
XM_024453095.1:c.90668G>C (TTN) XP_024308863.1:p.Arg30223Pro
XM_024453096.1:c.90101G>C (TTN) XP_024308864.1:p.Arg30034Pro
XM_024453097.1:c.87443G>C (TTN) XP_024308865.1:p.Arg29148Pro
XM_024453098.1:c.87362G>C (TTN) XP_024308866.1:p.Arg29121Pro
XM_024453099.1:c.69125G>C (TTN) XP_024308867.1:p.Arg23042Pro
XM_024453100.1:c.58979G>C (TTN) XP_024308868.1:p.Arg19660Pro