Canonical Allele Identifier: CA349495526

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549766T>C , CM000664.2:g.178549766T>C GRCh38
NC_000002.11:g.179414493T>C , CM000664.1:g.179414493T>C GRCh37
NC_000002.10:g.179122739T>C NCBI36
NG_011618.3:g.286037A>G , LRG_391:g.286037A>G
NG_051363.1:g.31940T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84252A>G (TTN) ENSP00000343764.6:p.Ile28084Met
ENST00000342175.11:c.65337A>G (TTN) ENSP00000340554.6:p.Ile21779Met
ENST00000359218.10:c.65136A>G (TTN) ENSP00000352154.5:p.Ile21712Met
ENST00000342175.10:c.65337A>G (TTN) ENSP00000340554.6:p.Ile21779Met
ENST00000342992.10:c.84252A>G (TTN) ENSP00000343764.6:p.Ile28084Met
ENST00000359218.9:c.65136A>G (TTN) ENSP00000352154.5:p.Ile21712Met
ENST00000460472.6:c.64761A>G (TTN) ENSP00000434586.1:p.Ile21587Met
ENST00000589042.5:c.91956A>G (TTN) MANE Select ENSP00000467141.1:p.Ile30652Met
ENST00000591111.5:c.87033A>G (TTN) ENSP00000465570.1:p.Ile29011Met
ENST00000615779.4:c.87033A>G (TTN) ENSP00000483597.1:p.Ile29011Met
NM_001256850.1:c.87033A>G (TTN) NP_001243779.1:p.Ile29011Met
NM_001267550.2:c.91956A>G (TTN) MANE Select NP_001254479.2:p.Ile30652Met
NM_003319.4:c.64761A>G (TTN) NP_003310.4:p.Ile21587Met
NM_133378.4:c.84252A>G (TTN) NP_596869.4:p.Ile28084Met
NM_133432.3:c.65136A>G (TTN) NP_597676.3:p.Ile21712Met
NM_133437.4:c.65337A>G (TTN) NP_597681.4:p.Ile21779Met
NR_038271.1:n.447-21534T>C (TTN-AS1)
NR_038272.1:n.2043+7405T>C (TTN-AS1)
XM_011511729.1:c.91053A>G (TTN) XP_011510031.1:p.Ile30351Met
XM_011511730.1:c.64947A>G (TTN) XP_011510032.1:p.Ile21649Met
XM_011511731.1:c.64806A>G (TTN) XP_011510033.1:p.Ile21602Met
XM_017004819.1:c.90849A>G (TTN) XP_016860308.1:p.Ile30283Met
XM_017004820.1:c.86247A>G (TTN) XP_016860309.1:p.Ile28749Met
XM_017004821.1:c.86244A>G (TTN) XP_016860310.1:p.Ile28748Met
XM_017004822.1:c.83286A>G (TTN) XP_016860311.1:p.Ile27762Met
XM_017004823.1:c.64902A>G (TTN) XP_016860312.1:p.Ile21634Met
XM_024453094.1:c.86397A>G (TTN) XP_024308862.1:p.Ile28799Met
XM_024453095.1:c.86394A>G (TTN) XP_024308863.1:p.Ile28798Met
XM_024453096.1:c.85827A>G (TTN) XP_024308864.1:p.Ile28609Met
XM_024453097.1:c.83169A>G (TTN) XP_024308865.1:p.Ile27723Met
XM_024453098.1:c.83088A>G (TTN) XP_024308866.1:p.Ile27696Met
XM_024453099.1:c.64851A>G (TTN) XP_024308867.1:p.Ile21617Met
XM_024453100.1:c.54705A>G (TTN) XP_024308868.1:p.Ile18235Met