Canonical Allele Identifier: CA349483627

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591124C>G , CM000664.2:g.178591124C>G GRCh38
NC_000002.11:g.179455851C>G , CM000664.1:g.179455851C>G GRCh37
NC_000002.10:g.179164097C>G NCBI36
NG_011618.3:g.244679G>C , LRG_391:g.244679G>C
NG_051363.1:g.73298C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52897G>C (TTN) ENSP00000343764.6:p.Gly17633Arg
ENST00000342175.11:c.33982G>C (TTN) ENSP00000340554.6:p.Gly11328Arg
ENST00000359218.10:c.33781G>C (TTN) ENSP00000352154.5:p.Gly11261Arg
ENST00000342175.10:c.33982G>C (TTN) ENSP00000340554.6:p.Gly11328Arg
ENST00000342992.10:c.52897G>C (TTN) ENSP00000343764.6:p.Gly17633Arg
ENST00000359218.9:c.33781G>C (TTN) ENSP00000352154.5:p.Gly11261Arg
ENST00000460472.6:c.33406G>C (TTN) ENSP00000434586.1:p.Gly11136Arg
ENST00000589042.5:c.60601G>C (TTN) MANE Select ENSP00000467141.1:p.Gly20201Arg
ENST00000591111.5:c.55678G>C (TTN) ENSP00000465570.1:p.Gly18560Arg
ENST00000615779.4:c.55678G>C (TTN) ENSP00000483597.1:p.Gly18560Arg
NM_001256850.1:c.55678G>C (TTN) NP_001243779.1:p.Gly18560Arg
NM_001267550.2:c.60601G>C (TTN) MANE Select NP_001254479.2:p.Gly20201Arg
NM_003319.4:c.33406G>C (TTN) NP_003310.4:p.Gly11136Arg
NM_133378.4:c.52897G>C (TTN) NP_596869.4:p.Gly17633Arg
NM_133432.3:c.33781G>C (TTN) NP_597676.3:p.Gly11261Arg
NM_133437.4:c.33982G>C (TTN) NP_597681.4:p.Gly11328Arg
NR_038271.1:n.597-6472C>G (TTN-AS1)
NR_038272.1:n.3189-15C>G (TTN-AS1)
XM_011511729.1:c.59698G>C (TTN) XP_011510031.1:p.Gly19900Arg
XM_011511730.1:c.33592G>C (TTN) XP_011510032.1:p.Gly11198Arg
XM_011511731.1:c.33451G>C (TTN) XP_011510033.1:p.Gly11151Arg
XM_017004819.1:c.59494G>C (TTN) XP_016860308.1:p.Gly19832Arg
XM_017004820.1:c.54892G>C (TTN) XP_016860309.1:p.Gly18298Arg
XM_017004821.1:c.54889G>C (TTN) XP_016860310.1:p.Gly18297Arg
XM_017004822.1:c.51931G>C (TTN) XP_016860311.1:p.Gly17311Arg
XM_017004823.1:c.33547G>C (TTN) XP_016860312.1:p.Gly11183Arg
XM_024453094.1:c.55042G>C (TTN) XP_024308862.1:p.Gly18348Arg
XM_024453095.1:c.55039G>C (TTN) XP_024308863.1:p.Gly18347Arg
XM_024453096.1:c.54472G>C (TTN) XP_024308864.1:p.Gly18158Arg
XM_024453097.1:c.51814G>C (TTN) XP_024308865.1:p.Gly17272Arg
XM_024453098.1:c.51733G>C (TTN) XP_024308866.1:p.Gly17245Arg
XM_024453099.1:c.33496G>C (TTN) XP_024308867.1:p.Gly11166Arg
XM_024453100.1:c.23350G>C (TTN) XP_024308868.1:p.Gly7784Arg