Canonical Allele Identifier: CA349459753

Linked Data

dbSNP Id: rs1696642086

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178545477T>C , CM000664.2:g.178545477T>C GRCh38
NC_000002.11:g.179410204T>C , CM000664.1:g.179410204T>C GRCh37
NC_000002.10:g.179118450T>C NCBI36
NG_011618.3:g.290326A>G , LRG_391:g.290326A>G
NG_051363.1:g.27651T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87929A>G (TTN) ENSP00000343764.6:p.Asp29310Gly
ENST00000342175.11:c.69014A>G (TTN) ENSP00000340554.6:p.Asp23005Gly
ENST00000359218.10:c.68813A>G (TTN) ENSP00000352154.5:p.Asp22938Gly
ENST00000342175.10:c.69014A>G (TTN) ENSP00000340554.6:p.Asp23005Gly
ENST00000342992.10:c.87929A>G (TTN) ENSP00000343764.6:p.Asp29310Gly
ENST00000359218.9:c.68813A>G (TTN) ENSP00000352154.5:p.Asp22938Gly
ENST00000460472.6:c.68438A>G (TTN) ENSP00000434586.1:p.Asp22813Gly
ENST00000589042.5:c.95633A>G (TTN) MANE Select ENSP00000467141.1:p.Asp31878Gly
ENST00000591111.5:c.90710A>G (TTN) ENSP00000465570.1:p.Asp30237Gly
ENST00000615779.4:c.90710A>G (TTN) ENSP00000483597.1:p.Asp30237Gly
NM_001256850.1:c.90710A>G (TTN) NP_001243779.1:p.Asp30237Gly
NM_001267550.2:c.95633A>G (TTN) MANE Select NP_001254479.2:p.Asp31878Gly
NM_003319.4:c.68438A>G (TTN) NP_003310.4:p.Asp22813Gly
NM_133378.4:c.87929A>G (TTN) NP_596869.4:p.Asp29310Gly
NM_133432.3:c.68813A>G (TTN) NP_597676.3:p.Asp22938Gly
NM_133437.4:c.69014A>G (TTN) NP_597681.4:p.Asp23005Gly
NR_038271.1:n.446+21841T>C (TTN-AS1)
NR_038272.1:n.2043+3116T>C (TTN-AS1)
XM_011511729.1:c.94730A>G (TTN) XP_011510031.1:p.Asp31577Gly
XM_011511730.1:c.68624A>G (TTN) XP_011510032.1:p.Asp22875Gly
XM_011511731.1:c.68483A>G (TTN) XP_011510033.1:p.Asp22828Gly
XM_017004819.1:c.94526A>G (TTN) XP_016860308.1:p.Asp31509Gly
XM_017004820.1:c.89924A>G (TTN) XP_016860309.1:p.Asp29975Gly
XM_017004821.1:c.89921A>G (TTN) XP_016860310.1:p.Asp29974Gly
XM_017004822.1:c.86963A>G (TTN) XP_016860311.1:p.Asp28988Gly
XM_017004823.1:c.68579A>G (TTN) XP_016860312.1:p.Asp22860Gly
XM_024453094.1:c.90074A>G (TTN) XP_024308862.1:p.Asp30025Gly
XM_024453095.1:c.90071A>G (TTN) XP_024308863.1:p.Asp30024Gly
XM_024453096.1:c.89504A>G (TTN) XP_024308864.1:p.Asp29835Gly
XM_024453097.1:c.86846A>G (TTN) XP_024308865.1:p.Asp28949Gly
XM_024453098.1:c.86765A>G (TTN) XP_024308866.1:p.Asp28922Gly
XM_024453099.1:c.68528A>G (TTN) XP_024308867.1:p.Asp22843Gly
XM_024453100.1:c.58382A>G (TTN) XP_024308868.1:p.Asp19461Gly