Canonical Allele Identifier: CA349544889

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559837A>C , CM000664.2:g.178559837A>C GRCh38
NC_000002.11:g.179424564A>C , CM000664.1:g.179424564A>C GRCh37
NC_000002.10:g.179132810A>C NCBI36
NG_011618.3:g.275966T>G , LRG_391:g.275966T>G
NG_051363.1:g.42011A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.78591T>G (TTN) ENSP00000343764.6:p.Ile26197Met
ENST00000342175.11:c.59676T>G (TTN) ENSP00000340554.6:p.Ile19892Met
ENST00000359218.10:c.59475T>G (TTN) ENSP00000352154.5:p.Ile19825Met
ENST00000342175.10:c.59676T>G (TTN) ENSP00000340554.6:p.Ile19892Met
ENST00000342992.10:c.78591T>G (TTN) ENSP00000343764.6:p.Ile26197Met
ENST00000359218.9:c.59475T>G (TTN) ENSP00000352154.5:p.Ile19825Met
ENST00000460472.6:c.59100T>G (TTN) ENSP00000434586.1:p.Ile19700Met
ENST00000589042.5:c.86295T>G (TTN) MANE Select ENSP00000467141.1:p.Ile28765Met
ENST00000591111.5:c.81372T>G (TTN) ENSP00000465570.1:p.Ile27124Met
ENST00000615779.4:c.81372T>G (TTN) ENSP00000483597.1:p.Ile27124Met
NM_001256850.1:c.81372T>G (TTN) NP_001243779.1:p.Ile27124Met
NM_001267550.2:c.86295T>G (TTN) MANE Select NP_001254479.2:p.Ile28765Met
NM_003319.4:c.59100T>G (TTN) NP_003310.4:p.Ile19700Met
NM_133378.4:c.78591T>G (TTN) NP_596869.4:p.Ile26197Met
NM_133432.3:c.59475T>G (TTN) NP_597676.3:p.Ile19825Met
NM_133437.4:c.59676T>G (TTN) NP_597681.4:p.Ile19892Met
NR_038271.1:n.447-11463A>C (TTN-AS1)
NR_038272.1:n.2043+17476A>C (TTN-AS1)
XM_011511729.1:c.85392T>G (TTN) XP_011510031.1:p.Ile28464Met
XM_011511730.1:c.59286T>G (TTN) XP_011510032.1:p.Ile19762Met
XM_011511731.1:c.59145T>G (TTN) XP_011510033.1:p.Ile19715Met
XM_017004819.1:c.85188T>G (TTN) XP_016860308.1:p.Ile28396Met
XM_017004820.1:c.80586T>G (TTN) XP_016860309.1:p.Ile26862Met
XM_017004821.1:c.80583T>G (TTN) XP_016860310.1:p.Ile26861Met
XM_017004822.1:c.77625T>G (TTN) XP_016860311.1:p.Ile25875Met
XM_017004823.1:c.59241T>G (TTN) XP_016860312.1:p.Ile19747Met
XM_024453094.1:c.80736T>G (TTN) XP_024308862.1:p.Ile26912Met
XM_024453095.1:c.80733T>G (TTN) XP_024308863.1:p.Ile26911Met
XM_024453096.1:c.80166T>G (TTN) XP_024308864.1:p.Ile26722Met
XM_024453097.1:c.77508T>G (TTN) XP_024308865.1:p.Ile25836Met
XM_024453098.1:c.77427T>G (TTN) XP_024308866.1:p.Ile25809Met
XM_024453099.1:c.59190T>G (TTN) XP_024308867.1:p.Ile19730Met
XM_024453100.1:c.49044T>G (TTN) XP_024308868.1:p.Ile16348Met