Canonical Allele Identifier: CA349495601

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549780C>A , CM000664.2:g.178549780C>A GRCh38
NC_000002.11:g.179414507C>A , CM000664.1:g.179414507C>A GRCh37
NC_000002.10:g.179122753C>A NCBI36
NG_011618.3:g.286023G>T , LRG_391:g.286023G>T
NG_051363.1:g.31954C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84238G>T (TTN) ENSP00000343764.6:p.Gly28080Cys
ENST00000342175.11:c.65323G>T (TTN) ENSP00000340554.6:p.Gly21775Cys
ENST00000359218.10:c.65122G>T (TTN) ENSP00000352154.5:p.Gly21708Cys
ENST00000342175.10:c.65323G>T (TTN) ENSP00000340554.6:p.Gly21775Cys
ENST00000342992.10:c.84238G>T (TTN) ENSP00000343764.6:p.Gly28080Cys
ENST00000359218.9:c.65122G>T (TTN) ENSP00000352154.5:p.Gly21708Cys
ENST00000460472.6:c.64747G>T (TTN) ENSP00000434586.1:p.Gly21583Cys
ENST00000589042.5:c.91942G>T (TTN) MANE Select ENSP00000467141.1:p.Gly30648Cys
ENST00000591111.5:c.87019G>T (TTN) ENSP00000465570.1:p.Gly29007Cys
ENST00000615779.4:c.87019G>T (TTN) ENSP00000483597.1:p.Gly29007Cys
NM_001256850.1:c.87019G>T (TTN) NP_001243779.1:p.Gly29007Cys
NM_001267550.2:c.91942G>T (TTN) MANE Select NP_001254479.2:p.Gly30648Cys
NM_003319.4:c.64747G>T (TTN) NP_003310.4:p.Gly21583Cys
NM_133378.4:c.84238G>T (TTN) NP_596869.4:p.Gly28080Cys
NM_133432.3:c.65122G>T (TTN) NP_597676.3:p.Gly21708Cys
NM_133437.4:c.65323G>T (TTN) NP_597681.4:p.Gly21775Cys
NR_038271.1:n.447-21520C>A (TTN-AS1)
NR_038272.1:n.2043+7419C>A (TTN-AS1)
XM_011511729.1:c.91039G>T (TTN) XP_011510031.1:p.Gly30347Cys
XM_011511730.1:c.64933G>T (TTN) XP_011510032.1:p.Gly21645Cys
XM_011511731.1:c.64792G>T (TTN) XP_011510033.1:p.Gly21598Cys
XM_017004819.1:c.90835G>T (TTN) XP_016860308.1:p.Gly30279Cys
XM_017004820.1:c.86233G>T (TTN) XP_016860309.1:p.Gly28745Cys
XM_017004821.1:c.86230G>T (TTN) XP_016860310.1:p.Gly28744Cys
XM_017004822.1:c.83272G>T (TTN) XP_016860311.1:p.Gly27758Cys
XM_017004823.1:c.64888G>T (TTN) XP_016860312.1:p.Gly21630Cys
XM_024453094.1:c.86383G>T (TTN) XP_024308862.1:p.Gly28795Cys
XM_024453095.1:c.86380G>T (TTN) XP_024308863.1:p.Gly28794Cys
XM_024453096.1:c.85813G>T (TTN) XP_024308864.1:p.Gly28605Cys
XM_024453097.1:c.83155G>T (TTN) XP_024308865.1:p.Gly27719Cys
XM_024453098.1:c.83074G>T (TTN) XP_024308866.1:p.Gly27692Cys
XM_024453099.1:c.64837G>T (TTN) XP_024308867.1:p.Gly21613Cys
XM_024453100.1:c.54691G>T (TTN) XP_024308868.1:p.Gly18231Cys