Canonical Allele Identifier: CA349411352

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532027T>G , CM000664.2:g.178532027T>G GRCh38
NC_000002.11:g.179396754T>G , CM000664.1:g.179396754T>G GRCh37
NC_000002.10:g.179105000T>G NCBI36
NG_011618.3:g.303776A>C , LRG_391:g.303776A>C
NG_051363.1:g.14201T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96884A>C (TTN) ENSP00000343764.6:p.Gln32295Pro
ENST00000342175.11:c.77969A>C (TTN) ENSP00000340554.6:p.Gln25990Pro
ENST00000359218.10:c.77768A>C (TTN) ENSP00000352154.5:p.Gln25923Pro
ENST00000342175.10:c.77969A>C (TTN) ENSP00000340554.6:p.Gln25990Pro
ENST00000342992.10:c.96884A>C (TTN) ENSP00000343764.6:p.Gln32295Pro
ENST00000359218.9:c.77768A>C (TTN) ENSP00000352154.5:p.Gln25923Pro
ENST00000460472.6:c.77393A>C (TTN) ENSP00000434586.1:p.Gln25798Pro
ENST00000589042.5:c.104588A>C (TTN) MANE Select ENSP00000467141.1:p.Gln34863Pro
ENST00000591111.5:c.99665A>C (TTN) ENSP00000465570.1:p.Gln33222Pro
ENST00000615779.4:c.99665A>C (TTN) ENSP00000483597.1:p.Gln33222Pro
NM_001256850.1:c.99665A>C (TTN) NP_001243779.1:p.Gln33222Pro
NM_001267550.2:c.104588A>C (TTN) MANE Select NP_001254479.2:p.Gln34863Pro
NM_003319.4:c.77393A>C (TTN) NP_003310.4:p.Gln25798Pro
NM_133378.4:c.96884A>C (TTN) NP_596869.4:p.Gln32295Pro
NM_133432.3:c.77768A>C (TTN) NP_597676.3:p.Gln25923Pro
NM_133437.4:c.77969A>C (TTN) NP_597681.4:p.Gln25990Pro
NR_038271.1:n.446+8391T>G (TTN-AS1)
NR_038272.1:n.220-3705T>G (TTN-AS1)
XM_011511729.1:c.103685A>C (TTN) XP_011510031.1:p.Gln34562Pro
XM_011511730.1:c.77579A>C (TTN) XP_011510032.1:p.Gln25860Pro
XM_011511731.1:c.77438A>C (TTN) XP_011510033.1:p.Gln25813Pro
XM_017004819.1:c.103481A>C (TTN) XP_016860308.1:p.Gln34494Pro
XM_017004820.1:c.98879A>C (TTN) XP_016860309.1:p.Gln32960Pro
XM_017004821.1:c.98876A>C (TTN) XP_016860310.1:p.Gln32959Pro
XM_017004822.1:c.95918A>C (TTN) XP_016860311.1:p.Gln31973Pro
XM_017004823.1:c.77534A>C (TTN) XP_016860312.1:p.Gln25845Pro
XM_024453094.1:c.99029A>C (TTN) XP_024308862.1:p.Gln33010Pro
XM_024453095.1:c.99026A>C (TTN) XP_024308863.1:p.Gln33009Pro
XM_024453096.1:c.98459A>C (TTN) XP_024308864.1:p.Gln32820Pro
XM_024453097.1:c.95801A>C (TTN) XP_024308865.1:p.Gln31934Pro
XM_024453098.1:c.95720A>C (TTN) XP_024308866.1:p.Gln31907Pro
XM_024453099.1:c.77483A>C (TTN) XP_024308867.1:p.Gln25828Pro
XM_024453100.1:c.67337A>C (TTN) XP_024308868.1:p.Gln22446Pro