Canonical Allele Identifier: CA349454757

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544205T>G , CM000664.2:g.178544205T>G GRCh38
NC_000002.11:g.179408932T>G , CM000664.1:g.179408932T>G GRCh37
NC_000002.10:g.179117178T>G NCBI36
NG_011618.3:g.291598A>C , LRG_391:g.291598A>C
NG_051363.1:g.26379T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88320A>C (TTN) ENSP00000343764.6:p.Arg29440Ser
ENST00000342175.11:c.69405A>C (TTN) ENSP00000340554.6:p.Arg23135Ser
ENST00000359218.10:c.69204A>C (TTN) ENSP00000352154.5:p.Arg23068Ser
ENST00000342175.10:c.69405A>C (TTN) ENSP00000340554.6:p.Arg23135Ser
ENST00000342992.10:c.88320A>C (TTN) ENSP00000343764.6:p.Arg29440Ser
ENST00000359218.9:c.69204A>C (TTN) ENSP00000352154.5:p.Arg23068Ser
ENST00000460472.6:c.68829A>C (TTN) ENSP00000434586.1:p.Arg22943Ser
ENST00000589042.5:c.96024A>C (TTN) MANE Select ENSP00000467141.1:p.Arg32008Ser
ENST00000591111.5:c.91101A>C (TTN) ENSP00000465570.1:p.Arg30367Ser
ENST00000615779.4:c.91101A>C (TTN) ENSP00000483597.1:p.Arg30367Ser
NM_001256850.1:c.91101A>C (TTN) NP_001243779.1:p.Arg30367Ser
NM_001267550.2:c.96024A>C (TTN) MANE Select NP_001254479.2:p.Arg32008Ser
NM_003319.4:c.68829A>C (TTN) NP_003310.4:p.Arg22943Ser
NM_133378.4:c.88320A>C (TTN) NP_596869.4:p.Arg29440Ser
NM_133432.3:c.69204A>C (TTN) NP_597676.3:p.Arg23068Ser
NM_133437.4:c.69405A>C (TTN) NP_597681.4:p.Arg23135Ser
NR_038271.1:n.446+20569T>G (TTN-AS1)
NR_038272.1:n.2043+1844T>G (TTN-AS1)
XM_011511729.1:c.95121A>C (TTN) XP_011510031.1:p.Arg31707Ser
XM_011511730.1:c.69015A>C (TTN) XP_011510032.1:p.Arg23005Ser
XM_011511731.1:c.68874A>C (TTN) XP_011510033.1:p.Arg22958Ser
XM_017004819.1:c.94917A>C (TTN) XP_016860308.1:p.Arg31639Ser
XM_017004820.1:c.90315A>C (TTN) XP_016860309.1:p.Arg30105Ser
XM_017004821.1:c.90312A>C (TTN) XP_016860310.1:p.Arg30104Ser
XM_017004822.1:c.87354A>C (TTN) XP_016860311.1:p.Arg29118Ser
XM_017004823.1:c.68970A>C (TTN) XP_016860312.1:p.Arg22990Ser
XM_024453094.1:c.90465A>C (TTN) XP_024308862.1:p.Arg30155Ser
XM_024453095.1:c.90462A>C (TTN) XP_024308863.1:p.Arg30154Ser
XM_024453096.1:c.89895A>C (TTN) XP_024308864.1:p.Arg29965Ser
XM_024453097.1:c.87237A>C (TTN) XP_024308865.1:p.Arg29079Ser
XM_024453098.1:c.87156A>C (TTN) XP_024308866.1:p.Arg29052Ser
XM_024453099.1:c.68919A>C (TTN) XP_024308867.1:p.Arg22973Ser
XM_024453100.1:c.58773A>C (TTN) XP_024308868.1:p.Arg19591Ser