Canonical Allele Identifier: CA349406654

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530417T>C , CM000664.2:g.178530417T>C GRCh38
NC_000002.11:g.179395144T>C , CM000664.1:g.179395144T>C GRCh37
NC_000002.10:g.179103390T>C NCBI36
NG_011618.3:g.305386A>G , LRG_391:g.305386A>G
NG_051363.1:g.12591T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98494A>G (TTN) ENSP00000343764.6:p.Thr32832Ala
ENST00000342175.11:c.79579A>G (TTN) ENSP00000340554.6:p.Thr26527Ala
ENST00000359218.10:c.79378A>G (TTN) ENSP00000352154.5:p.Thr26460Ala
ENST00000342175.10:c.79579A>G (TTN) ENSP00000340554.6:p.Thr26527Ala
ENST00000342992.10:c.98494A>G (TTN) ENSP00000343764.6:p.Thr32832Ala
ENST00000359218.9:c.79378A>G (TTN) ENSP00000352154.5:p.Thr26460Ala
ENST00000460472.6:c.79003A>G (TTN) ENSP00000434586.1:p.Thr26335Ala
ENST00000589042.5:c.106198A>G (TTN) MANE Select ENSP00000467141.1:p.Thr35400Ala
ENST00000591111.5:c.101275A>G (TTN) ENSP00000465570.1:p.Thr33759Ala
ENST00000615779.4:c.101275A>G (TTN) ENSP00000483597.1:p.Thr33759Ala
NM_001256850.1:c.101275A>G (TTN) NP_001243779.1:p.Thr33759Ala
NM_001267550.2:c.106198A>G (TTN) MANE Select NP_001254479.2:p.Thr35400Ala
NM_003319.4:c.79003A>G (TTN) NP_003310.4:p.Thr26335Ala
NM_133378.4:c.98494A>G (TTN) NP_596869.4:p.Thr32832Ala
NM_133432.3:c.79378A>G (TTN) NP_597676.3:p.Thr26460Ala
NM_133437.4:c.79579A>G (TTN) NP_597681.4:p.Thr26527Ala
NR_038271.1:n.446+6781T>C (TTN-AS1)
NR_038272.1:n.220-5315T>C (TTN-AS1)
XM_011511729.1:c.105295A>G (TTN) XP_011510031.1:p.Thr35099Ala
XM_011511730.1:c.79189A>G (TTN) XP_011510032.1:p.Thr26397Ala
XM_011511731.1:c.79048A>G (TTN) XP_011510033.1:p.Thr26350Ala
XM_017004819.1:c.105091A>G (TTN) XP_016860308.1:p.Thr35031Ala
XM_017004820.1:c.100489A>G (TTN) XP_016860309.1:p.Thr33497Ala
XM_017004821.1:c.100486A>G (TTN) XP_016860310.1:p.Thr33496Ala
XM_017004822.1:c.97528A>G (TTN) XP_016860311.1:p.Thr32510Ala
XM_017004823.1:c.79144A>G (TTN) XP_016860312.1:p.Thr26382Ala
XM_024453094.1:c.100639A>G (TTN) XP_024308862.1:p.Thr33547Ala
XM_024453095.1:c.100636A>G (TTN) XP_024308863.1:p.Thr33546Ala
XM_024453096.1:c.100069A>G (TTN) XP_024308864.1:p.Thr33357Ala
XM_024453097.1:c.97411A>G (TTN) XP_024308865.1:p.Thr32471Ala
XM_024453098.1:c.97330A>G (TTN) XP_024308866.1:p.Thr32444Ala
XM_024453099.1:c.79093A>G (TTN) XP_024308867.1:p.Thr26365Ala
XM_024453100.1:c.68947A>G (TTN) XP_024308868.1:p.Thr22983Ala