Canonical Allele Identifier: CA349672566

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178578090T>C , CM000664.2:g.178578090T>C GRCh38
NC_000002.11:g.179442817T>C , CM000664.1:g.179442817T>C GRCh37
NC_000002.10:g.179151063T>C NCBI36
NG_011618.3:g.257713A>G , LRG_391:g.257713A>G
NG_051363.1:g.60264T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.60721A>G (TTN) ENSP00000343764.6:p.Thr20241Ala
ENST00000342175.11:c.41806A>G (TTN) ENSP00000340554.6:p.Thr13936Ala
ENST00000359218.10:c.41605A>G (TTN) ENSP00000352154.5:p.Thr13869Ala
ENST00000342175.10:c.41806A>G (TTN) ENSP00000340554.6:p.Thr13936Ala
ENST00000342992.10:c.60721A>G (TTN) ENSP00000343764.6:p.Thr20241Ala
ENST00000359218.9:c.41605A>G (TTN) ENSP00000352154.5:p.Thr13869Ala
ENST00000460472.6:c.41230A>G (TTN) ENSP00000434586.1:p.Thr13744Ala
ENST00000589042.5:c.68425A>G (TTN) MANE Select ENSP00000467141.1:p.Thr22809Ala
ENST00000591111.5:c.63502A>G (TTN) ENSP00000465570.1:p.Thr21168Ala
ENST00000615779.4:c.63502A>G (TTN) ENSP00000483597.1:p.Thr21168Ala
NM_001256850.1:c.63502A>G (TTN) NP_001243779.1:p.Thr21168Ala
NM_001267550.2:c.68425A>G (TTN) MANE Select NP_001254479.2:p.Thr22809Ala
NM_003319.4:c.41230A>G (TTN) NP_003310.4:p.Thr13744Ala
NM_133378.4:c.60721A>G (TTN) NP_596869.4:p.Thr20241Ala
NM_133432.3:c.41605A>G (TTN) NP_597676.3:p.Thr13869Ala
NM_133437.4:c.41806A>G (TTN) NP_597681.4:p.Thr13936Ala
NR_038271.1:n.596+6641T>C (TTN-AS1)
NR_038272.1:n.2044-4482T>C (TTN-AS1)
XM_011511729.1:c.67522A>G (TTN) XP_011510031.1:p.Thr22508Ala
XM_011511730.1:c.41416A>G (TTN) XP_011510032.1:p.Thr13806Ala
XM_011511731.1:c.41275A>G (TTN) XP_011510033.1:p.Thr13759Ala
XM_017004819.1:c.67318A>G (TTN) XP_016860308.1:p.Thr22440Ala
XM_017004820.1:c.62716A>G (TTN) XP_016860309.1:p.Thr20906Ala
XM_017004821.1:c.62713A>G (TTN) XP_016860310.1:p.Thr20905Ala
XM_017004822.1:c.59755A>G (TTN) XP_016860311.1:p.Thr19919Ala
XM_017004823.1:c.41371A>G (TTN) XP_016860312.1:p.Thr13791Ala
XM_024453094.1:c.62866A>G (TTN) XP_024308862.1:p.Thr20956Ala
XM_024453095.1:c.62863A>G (TTN) XP_024308863.1:p.Thr20955Ala
XM_024453096.1:c.62296A>G (TTN) XP_024308864.1:p.Thr20766Ala
XM_024453097.1:c.59638A>G (TTN) XP_024308865.1:p.Thr19880Ala
XM_024453098.1:c.59557A>G (TTN) XP_024308866.1:p.Thr19853Ala
XM_024453099.1:c.41320A>G (TTN) XP_024308867.1:p.Thr13774Ala
XM_024453100.1:c.31174A>G (TTN) XP_024308868.1:p.Thr10392Ala