Canonical Allele Identifier: CA349458109

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544474C>G , CM000664.2:g.178544474C>G GRCh38
NC_000002.11:g.179409201C>G , CM000664.1:g.179409201C>G GRCh37
NC_000002.10:g.179117447C>G NCBI36
NG_011618.3:g.291329G>C , LRG_391:g.291329G>C
NG_051363.1:g.26648C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88051G>C (TTN) ENSP00000343764.6:p.Val29351Leu
ENST00000342175.11:c.69136G>C (TTN) ENSP00000340554.6:p.Val23046Leu
ENST00000359218.10:c.68935G>C (TTN) ENSP00000352154.5:p.Val22979Leu
ENST00000342175.10:c.69136G>C (TTN) ENSP00000340554.6:p.Val23046Leu
ENST00000342992.10:c.88051G>C (TTN) ENSP00000343764.6:p.Val29351Leu
ENST00000359218.9:c.68935G>C (TTN) ENSP00000352154.5:p.Val22979Leu
ENST00000460472.6:c.68560G>C (TTN) ENSP00000434586.1:p.Val22854Leu
ENST00000589042.5:c.95755G>C (TTN) MANE Select ENSP00000467141.1:p.Val31919Leu
ENST00000591111.5:c.90832G>C (TTN) ENSP00000465570.1:p.Val30278Leu
ENST00000615779.4:c.90832G>C (TTN) ENSP00000483597.1:p.Val30278Leu
NM_001256850.1:c.90832G>C (TTN) NP_001243779.1:p.Val30278Leu
NM_001267550.2:c.95755G>C (TTN) MANE Select NP_001254479.2:p.Val31919Leu
NM_003319.4:c.68560G>C (TTN) NP_003310.4:p.Val22854Leu
NM_133378.4:c.88051G>C (TTN) NP_596869.4:p.Val29351Leu
NM_133432.3:c.68935G>C (TTN) NP_597676.3:p.Val22979Leu
NM_133437.4:c.69136G>C (TTN) NP_597681.4:p.Val23046Leu
NR_038271.1:n.446+20838C>G (TTN-AS1)
NR_038272.1:n.2043+2113C>G (TTN-AS1)
XM_011511729.1:c.94852G>C (TTN) XP_011510031.1:p.Val31618Leu
XM_011511730.1:c.68746G>C (TTN) XP_011510032.1:p.Val22916Leu
XM_011511731.1:c.68605G>C (TTN) XP_011510033.1:p.Val22869Leu
XM_017004819.1:c.94648G>C (TTN) XP_016860308.1:p.Val31550Leu
XM_017004820.1:c.90046G>C (TTN) XP_016860309.1:p.Val30016Leu
XM_017004821.1:c.90043G>C (TTN) XP_016860310.1:p.Val30015Leu
XM_017004822.1:c.87085G>C (TTN) XP_016860311.1:p.Val29029Leu
XM_017004823.1:c.68701G>C (TTN) XP_016860312.1:p.Val22901Leu
XM_024453094.1:c.90196G>C (TTN) XP_024308862.1:p.Val30066Leu
XM_024453095.1:c.90193G>C (TTN) XP_024308863.1:p.Val30065Leu
XM_024453096.1:c.89626G>C (TTN) XP_024308864.1:p.Val29876Leu
XM_024453097.1:c.86968G>C (TTN) XP_024308865.1:p.Val28990Leu
XM_024453098.1:c.86887G>C (TTN) XP_024308866.1:p.Val28963Leu
XM_024453099.1:c.68650G>C (TTN) XP_024308867.1:p.Val22884Leu
XM_024453100.1:c.58504G>C (TTN) XP_024308868.1:p.Val19502Leu