Canonical Allele Identifier: CA349411779

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532198T>C , CM000664.2:g.178532198T>C GRCh38
NC_000002.11:g.179396925T>C , CM000664.1:g.179396925T>C GRCh37
NC_000002.10:g.179105171T>C NCBI36
NG_011618.3:g.303605A>G , LRG_391:g.303605A>G
NG_051363.1:g.14372T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96713A>G (TTN) ENSP00000343764.6:p.Gln32238Arg
ENST00000342175.11:c.77798A>G (TTN) ENSP00000340554.6:p.Gln25933Arg
ENST00000359218.10:c.77597A>G (TTN) ENSP00000352154.5:p.Gln25866Arg
ENST00000342175.10:c.77798A>G (TTN) ENSP00000340554.6:p.Gln25933Arg
ENST00000342992.10:c.96713A>G (TTN) ENSP00000343764.6:p.Gln32238Arg
ENST00000359218.9:c.77597A>G (TTN) ENSP00000352154.5:p.Gln25866Arg
ENST00000460472.6:c.77222A>G (TTN) ENSP00000434586.1:p.Gln25741Arg
ENST00000589042.5:c.104417A>G (TTN) MANE Select ENSP00000467141.1:p.Gln34806Arg
ENST00000591111.5:c.99494A>G (TTN) ENSP00000465570.1:p.Gln33165Arg
ENST00000615779.4:c.99494A>G (TTN) ENSP00000483597.1:p.Gln33165Arg
NM_001256850.1:c.99494A>G (TTN) NP_001243779.1:p.Gln33165Arg
NM_001267550.2:c.104417A>G (TTN) MANE Select NP_001254479.2:p.Gln34806Arg
NM_003319.4:c.77222A>G (TTN) NP_003310.4:p.Gln25741Arg
NM_133378.4:c.96713A>G (TTN) NP_596869.4:p.Gln32238Arg
NM_133432.3:c.77597A>G (TTN) NP_597676.3:p.Gln25866Arg
NM_133437.4:c.77798A>G (TTN) NP_597681.4:p.Gln25933Arg
NR_038271.1:n.446+8562T>C (TTN-AS1)
NR_038272.1:n.220-3534T>C (TTN-AS1)
XM_011511729.1:c.103514A>G (TTN) XP_011510031.1:p.Gln34505Arg
XM_011511730.1:c.77408A>G (TTN) XP_011510032.1:p.Gln25803Arg
XM_011511731.1:c.77267A>G (TTN) XP_011510033.1:p.Gln25756Arg
XM_017004819.1:c.103310A>G (TTN) XP_016860308.1:p.Gln34437Arg
XM_017004820.1:c.98708A>G (TTN) XP_016860309.1:p.Gln32903Arg
XM_017004821.1:c.98705A>G (TTN) XP_016860310.1:p.Gln32902Arg
XM_017004822.1:c.95747A>G (TTN) XP_016860311.1:p.Gln31916Arg
XM_017004823.1:c.77363A>G (TTN) XP_016860312.1:p.Gln25788Arg
XM_024453094.1:c.98858A>G (TTN) XP_024308862.1:p.Gln32953Arg
XM_024453095.1:c.98855A>G (TTN) XP_024308863.1:p.Gln32952Arg
XM_024453096.1:c.98288A>G (TTN) XP_024308864.1:p.Gln32763Arg
XM_024453097.1:c.95630A>G (TTN) XP_024308865.1:p.Gln31877Arg
XM_024453098.1:c.95549A>G (TTN) XP_024308866.1:p.Gln31850Arg
XM_024453099.1:c.77312A>G (TTN) XP_024308867.1:p.Gln25771Arg
XM_024453100.1:c.67166A>G (TTN) XP_024308868.1:p.Gln22389Arg