Canonical Allele Identifier: CA349454798

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544207T>C , CM000664.2:g.178544207T>C GRCh38
NC_000002.11:g.179408934T>C , CM000664.1:g.179408934T>C GRCh37
NC_000002.10:g.179117180T>C NCBI36
NG_011618.3:g.291596A>G , LRG_391:g.291596A>G
NG_051363.1:g.26381T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88318A>G (TTN) ENSP00000343764.6:p.Arg29440Gly
ENST00000342175.11:c.69403A>G (TTN) ENSP00000340554.6:p.Arg23135Gly
ENST00000359218.10:c.69202A>G (TTN) ENSP00000352154.5:p.Arg23068Gly
ENST00000342175.10:c.69403A>G (TTN) ENSP00000340554.6:p.Arg23135Gly
ENST00000342992.10:c.88318A>G (TTN) ENSP00000343764.6:p.Arg29440Gly
ENST00000359218.9:c.69202A>G (TTN) ENSP00000352154.5:p.Arg23068Gly
ENST00000460472.6:c.68827A>G (TTN) ENSP00000434586.1:p.Arg22943Gly
ENST00000589042.5:c.96022A>G (TTN) MANE Select ENSP00000467141.1:p.Arg32008Gly
ENST00000591111.5:c.91099A>G (TTN) ENSP00000465570.1:p.Arg30367Gly
ENST00000615779.4:c.91099A>G (TTN) ENSP00000483597.1:p.Arg30367Gly
NM_001256850.1:c.91099A>G (TTN) NP_001243779.1:p.Arg30367Gly
NM_001267550.2:c.96022A>G (TTN) MANE Select NP_001254479.2:p.Arg32008Gly
NM_003319.4:c.68827A>G (TTN) NP_003310.4:p.Arg22943Gly
NM_133378.4:c.88318A>G (TTN) NP_596869.4:p.Arg29440Gly
NM_133432.3:c.69202A>G (TTN) NP_597676.3:p.Arg23068Gly
NM_133437.4:c.69403A>G (TTN) NP_597681.4:p.Arg23135Gly
NR_038271.1:n.446+20571T>C (TTN-AS1)
NR_038272.1:n.2043+1846T>C (TTN-AS1)
XM_011511729.1:c.95119A>G (TTN) XP_011510031.1:p.Arg31707Gly
XM_011511730.1:c.69013A>G (TTN) XP_011510032.1:p.Arg23005Gly
XM_011511731.1:c.68872A>G (TTN) XP_011510033.1:p.Arg22958Gly
XM_017004819.1:c.94915A>G (TTN) XP_016860308.1:p.Arg31639Gly
XM_017004820.1:c.90313A>G (TTN) XP_016860309.1:p.Arg30105Gly
XM_017004821.1:c.90310A>G (TTN) XP_016860310.1:p.Arg30104Gly
XM_017004822.1:c.87352A>G (TTN) XP_016860311.1:p.Arg29118Gly
XM_017004823.1:c.68968A>G (TTN) XP_016860312.1:p.Arg22990Gly
XM_024453094.1:c.90463A>G (TTN) XP_024308862.1:p.Arg30155Gly
XM_024453095.1:c.90460A>G (TTN) XP_024308863.1:p.Arg30154Gly
XM_024453096.1:c.89893A>G (TTN) XP_024308864.1:p.Arg29965Gly
XM_024453097.1:c.87235A>G (TTN) XP_024308865.1:p.Arg29079Gly
XM_024453098.1:c.87154A>G (TTN) XP_024308866.1:p.Arg29052Gly
XM_024453099.1:c.68917A>G (TTN) XP_024308867.1:p.Arg22973Gly
XM_024453100.1:c.58771A>G (TTN) XP_024308868.1:p.Arg19591Gly