Canonical Allele Identifier: CA349455690

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544276C>G , CM000664.2:g.178544276C>G GRCh38
NC_000002.11:g.179409003C>G , CM000664.1:g.179409003C>G GRCh37
NC_000002.10:g.179117249C>G NCBI36
NG_011618.3:g.291527G>C , LRG_391:g.291527G>C
NG_051363.1:g.26450C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88249G>C (TTN) ENSP00000343764.6:p.Val29417Leu
ENST00000342175.11:c.69334G>C (TTN) ENSP00000340554.6:p.Val23112Leu
ENST00000359218.10:c.69133G>C (TTN) ENSP00000352154.5:p.Val23045Leu
ENST00000342175.10:c.69334G>C (TTN) ENSP00000340554.6:p.Val23112Leu
ENST00000342992.10:c.88249G>C (TTN) ENSP00000343764.6:p.Val29417Leu
ENST00000359218.9:c.69133G>C (TTN) ENSP00000352154.5:p.Val23045Leu
ENST00000460472.6:c.68758G>C (TTN) ENSP00000434586.1:p.Val22920Leu
ENST00000589042.5:c.95953G>C (TTN) MANE Select ENSP00000467141.1:p.Val31985Leu
ENST00000591111.5:c.91030G>C (TTN) ENSP00000465570.1:p.Val30344Leu
ENST00000615779.4:c.91030G>C (TTN) ENSP00000483597.1:p.Val30344Leu
NM_001256850.1:c.91030G>C (TTN) NP_001243779.1:p.Val30344Leu
NM_001267550.2:c.95953G>C (TTN) MANE Select NP_001254479.2:p.Val31985Leu
NM_003319.4:c.68758G>C (TTN) NP_003310.4:p.Val22920Leu
NM_133378.4:c.88249G>C (TTN) NP_596869.4:p.Val29417Leu
NM_133432.3:c.69133G>C (TTN) NP_597676.3:p.Val23045Leu
NM_133437.4:c.69334G>C (TTN) NP_597681.4:p.Val23112Leu
NR_038271.1:n.446+20640C>G (TTN-AS1)
NR_038272.1:n.2043+1915C>G (TTN-AS1)
XM_011511729.1:c.95050G>C (TTN) XP_011510031.1:p.Val31684Leu
XM_011511730.1:c.68944G>C (TTN) XP_011510032.1:p.Val22982Leu
XM_011511731.1:c.68803G>C (TTN) XP_011510033.1:p.Val22935Leu
XM_017004819.1:c.94846G>C (TTN) XP_016860308.1:p.Val31616Leu
XM_017004820.1:c.90244G>C (TTN) XP_016860309.1:p.Val30082Leu
XM_017004821.1:c.90241G>C (TTN) XP_016860310.1:p.Val30081Leu
XM_017004822.1:c.87283G>C (TTN) XP_016860311.1:p.Val29095Leu
XM_017004823.1:c.68899G>C (TTN) XP_016860312.1:p.Val22967Leu
XM_024453094.1:c.90394G>C (TTN) XP_024308862.1:p.Val30132Leu
XM_024453095.1:c.90391G>C (TTN) XP_024308863.1:p.Val30131Leu
XM_024453096.1:c.89824G>C (TTN) XP_024308864.1:p.Val29942Leu
XM_024453097.1:c.87166G>C (TTN) XP_024308865.1:p.Val29056Leu
XM_024453098.1:c.87085G>C (TTN) XP_024308866.1:p.Val29029Leu
XM_024453099.1:c.68848G>C (TTN) XP_024308867.1:p.Val22950Leu
XM_024453100.1:c.58702G>C (TTN) XP_024308868.1:p.Val19568Leu