Canonical Allele Identifier: CA349411310

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532008T>G , CM000664.2:g.178532008T>G GRCh38
NC_000002.11:g.179396735T>G , CM000664.1:g.179396735T>G GRCh37
NC_000002.10:g.179104981T>G NCBI36
NG_011618.3:g.303795A>C , LRG_391:g.303795A>C
NG_051363.1:g.14182T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96903A>C (TTN) ENSP00000343764.6:p.Glu32301Asp
ENST00000342175.11:c.77988A>C (TTN) ENSP00000340554.6:p.Glu25996Asp
ENST00000359218.10:c.77787A>C (TTN) ENSP00000352154.5:p.Glu25929Asp
ENST00000342175.10:c.77988A>C (TTN) ENSP00000340554.6:p.Glu25996Asp
ENST00000342992.10:c.96903A>C (TTN) ENSP00000343764.6:p.Glu32301Asp
ENST00000359218.9:c.77787A>C (TTN) ENSP00000352154.5:p.Glu25929Asp
ENST00000460472.6:c.77412A>C (TTN) ENSP00000434586.1:p.Glu25804Asp
ENST00000589042.5:c.104607A>C (TTN) MANE Select ENSP00000467141.1:p.Glu34869Asp
ENST00000591111.5:c.99684A>C (TTN) ENSP00000465570.1:p.Glu33228Asp
ENST00000615779.4:c.99684A>C (TTN) ENSP00000483597.1:p.Glu33228Asp
NM_001256850.1:c.99684A>C (TTN) NP_001243779.1:p.Glu33228Asp
NM_001267550.2:c.104607A>C (TTN) MANE Select NP_001254479.2:p.Glu34869Asp
NM_003319.4:c.77412A>C (TTN) NP_003310.4:p.Glu25804Asp
NM_133378.4:c.96903A>C (TTN) NP_596869.4:p.Glu32301Asp
NM_133432.3:c.77787A>C (TTN) NP_597676.3:p.Glu25929Asp
NM_133437.4:c.77988A>C (TTN) NP_597681.4:p.Glu25996Asp
NR_038271.1:n.446+8372T>G (TTN-AS1)
NR_038272.1:n.220-3724T>G (TTN-AS1)
XM_011511729.1:c.103704A>C (TTN) XP_011510031.1:p.Glu34568Asp
XM_011511730.1:c.77598A>C (TTN) XP_011510032.1:p.Glu25866Asp
XM_011511731.1:c.77457A>C (TTN) XP_011510033.1:p.Glu25819Asp
XM_017004819.1:c.103500A>C (TTN) XP_016860308.1:p.Glu34500Asp
XM_017004820.1:c.98898A>C (TTN) XP_016860309.1:p.Glu32966Asp
XM_017004821.1:c.98895A>C (TTN) XP_016860310.1:p.Glu32965Asp
XM_017004822.1:c.95937A>C (TTN) XP_016860311.1:p.Glu31979Asp
XM_017004823.1:c.77553A>C (TTN) XP_016860312.1:p.Glu25851Asp
XM_024453094.1:c.99048A>C (TTN) XP_024308862.1:p.Glu33016Asp
XM_024453095.1:c.99045A>C (TTN) XP_024308863.1:p.Glu33015Asp
XM_024453096.1:c.98478A>C (TTN) XP_024308864.1:p.Glu32826Asp
XM_024453097.1:c.95820A>C (TTN) XP_024308865.1:p.Glu31940Asp
XM_024453098.1:c.95739A>C (TTN) XP_024308866.1:p.Glu31913Asp
XM_024453099.1:c.77502A>C (TTN) XP_024308867.1:p.Glu25834Asp
XM_024453100.1:c.67356A>C (TTN) XP_024308868.1:p.Glu22452Asp