Canonical Allele Identifier: CA349411333

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532017C>G , CM000664.2:g.178532017C>G GRCh38
NC_000002.11:g.179396744C>G , CM000664.1:g.179396744C>G GRCh37
NC_000002.10:g.179104990C>G NCBI36
NG_011618.3:g.303786G>C , LRG_391:g.303786G>C
NG_051363.1:g.14191C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96894G>C (TTN) ENSP00000343764.6:p.Glu32298Asp
ENST00000342175.11:c.77979G>C (TTN) ENSP00000340554.6:p.Glu25993Asp
ENST00000359218.10:c.77778G>C (TTN) ENSP00000352154.5:p.Glu25926Asp
ENST00000342175.10:c.77979G>C (TTN) ENSP00000340554.6:p.Glu25993Asp
ENST00000342992.10:c.96894G>C (TTN) ENSP00000343764.6:p.Glu32298Asp
ENST00000359218.9:c.77778G>C (TTN) ENSP00000352154.5:p.Glu25926Asp
ENST00000460472.6:c.77403G>C (TTN) ENSP00000434586.1:p.Glu25801Asp
ENST00000589042.5:c.104598G>C (TTN) MANE Select ENSP00000467141.1:p.Glu34866Asp
ENST00000591111.5:c.99675G>C (TTN) ENSP00000465570.1:p.Glu33225Asp
ENST00000615779.4:c.99675G>C (TTN) ENSP00000483597.1:p.Glu33225Asp
NM_001256850.1:c.99675G>C (TTN) NP_001243779.1:p.Glu33225Asp
NM_001267550.2:c.104598G>C (TTN) MANE Select NP_001254479.2:p.Glu34866Asp
NM_003319.4:c.77403G>C (TTN) NP_003310.4:p.Glu25801Asp
NM_133378.4:c.96894G>C (TTN) NP_596869.4:p.Glu32298Asp
NM_133432.3:c.77778G>C (TTN) NP_597676.3:p.Glu25926Asp
NM_133437.4:c.77979G>C (TTN) NP_597681.4:p.Glu25993Asp
NR_038271.1:n.446+8381C>G (TTN-AS1)
NR_038272.1:n.220-3715C>G (TTN-AS1)
XM_011511729.1:c.103695G>C (TTN) XP_011510031.1:p.Glu34565Asp
XM_011511730.1:c.77589G>C (TTN) XP_011510032.1:p.Glu25863Asp
XM_011511731.1:c.77448G>C (TTN) XP_011510033.1:p.Glu25816Asp
XM_017004819.1:c.103491G>C (TTN) XP_016860308.1:p.Glu34497Asp
XM_017004820.1:c.98889G>C (TTN) XP_016860309.1:p.Glu32963Asp
XM_017004821.1:c.98886G>C (TTN) XP_016860310.1:p.Glu32962Asp
XM_017004822.1:c.95928G>C (TTN) XP_016860311.1:p.Glu31976Asp
XM_017004823.1:c.77544G>C (TTN) XP_016860312.1:p.Glu25848Asp
XM_024453094.1:c.99039G>C (TTN) XP_024308862.1:p.Glu33013Asp
XM_024453095.1:c.99036G>C (TTN) XP_024308863.1:p.Glu33012Asp
XM_024453096.1:c.98469G>C (TTN) XP_024308864.1:p.Glu32823Asp
XM_024453097.1:c.95811G>C (TTN) XP_024308865.1:p.Glu31937Asp
XM_024453098.1:c.95730G>C (TTN) XP_024308866.1:p.Glu31910Asp
XM_024453099.1:c.77493G>C (TTN) XP_024308867.1:p.Glu25831Asp
XM_024453100.1:c.67347G>C (TTN) XP_024308868.1:p.Glu22449Asp