Canonical Allele Identifier: CA284130

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178545555A>G , CM000664.2:g.178545555A>G GRCh38
NC_000002.11:g.179410282A>G , CM000664.1:g.179410282A>G GRCh37
NC_000002.10:g.179118528A>G NCBI36
NG_011618.3:g.290248T>C , LRG_391:g.290248T>C
NG_051363.1:g.27729A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87851T>C (TTN) ENSP00000343764.6:p.Leu29284Pro
ENST00000342175.11:c.68936T>C (TTN) ENSP00000340554.6:p.Leu22979Pro
ENST00000359218.10:c.68735T>C (TTN) ENSP00000352154.5:p.Leu22912Pro
ENST00000342175.10:c.68936T>C (TTN) ENSP00000340554.6:p.Leu22979Pro
ENST00000342992.10:c.87851T>C (TTN) ENSP00000343764.6:p.Leu29284Pro
ENST00000359218.9:c.68735T>C (TTN) ENSP00000352154.5:p.Leu22912Pro
ENST00000460472.6:c.68360T>C (TTN) ENSP00000434586.1:p.Leu22787Pro
ENST00000589042.5:c.95555T>C (TTN) MANE Select ENSP00000467141.1:p.Leu31852Pro
ENST00000591111.5:c.90632T>C (TTN) ENSP00000465570.1:p.Leu30211Pro
ENST00000615779.4:c.90632T>C (TTN) ENSP00000483597.1:p.Leu30211Pro
NM_001256850.1:c.90632T>C (TTN) NP_001243779.1:p.Leu30211Pro
NM_001267550.2:c.95555T>C (TTN) MANE Select NP_001254479.2:p.Leu31852Pro
NM_003319.4:c.68360T>C (TTN) NP_003310.4:p.Leu22787Pro
NM_133378.4:c.87851T>C (TTN) NP_596869.4:p.Leu29284Pro
NM_133432.3:c.68735T>C (TTN) NP_597676.3:p.Leu22912Pro
NM_133437.4:c.68936T>C (TTN) NP_597681.4:p.Leu22979Pro
NR_038271.1:n.446+21919A>G (TTN-AS1)
NR_038272.1:n.2043+3194A>G (TTN-AS1)
XM_011511729.1:c.94652T>C (TTN) XP_011510031.1:p.Leu31551Pro
XM_011511730.1:c.68546T>C (TTN) XP_011510032.1:p.Leu22849Pro
XM_011511731.1:c.68405T>C (TTN) XP_011510033.1:p.Leu22802Pro
XM_017004819.1:c.94448T>C (TTN) XP_016860308.1:p.Leu31483Pro
XM_017004820.1:c.89846T>C (TTN) XP_016860309.1:p.Leu29949Pro
XM_017004821.1:c.89843T>C (TTN) XP_016860310.1:p.Leu29948Pro
XM_017004822.1:c.86885T>C (TTN) XP_016860311.1:p.Leu28962Pro
XM_017004823.1:c.68501T>C (TTN) XP_016860312.1:p.Leu22834Pro
XM_024453094.1:c.89996T>C (TTN) XP_024308862.1:p.Leu29999Pro
XM_024453095.1:c.89993T>C (TTN) XP_024308863.1:p.Leu29998Pro
XM_024453096.1:c.89426T>C (TTN) XP_024308864.1:p.Leu29809Pro
XM_024453097.1:c.86768T>C (TTN) XP_024308865.1:p.Leu28923Pro
XM_024453098.1:c.86687T>C (TTN) XP_024308866.1:p.Leu28896Pro
XM_024453099.1:c.68450T>C (TTN) XP_024308867.1:p.Leu22817Pro
XM_024453100.1:c.58304T>C (TTN) XP_024308868.1:p.Leu19435Pro