Canonical Allele Identifier: CA349495579

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549775A>C , CM000664.2:g.178549775A>C GRCh38
NC_000002.11:g.179414502A>C , CM000664.1:g.179414502A>C GRCh37
NC_000002.10:g.179122748A>C NCBI36
NG_011618.3:g.286028T>G , LRG_391:g.286028T>G
NG_051363.1:g.31949A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84243T>G (TTN) ENSP00000343764.6:p.Cys28081Trp
ENST00000342175.11:c.65328T>G (TTN) ENSP00000340554.6:p.Cys21776Trp
ENST00000359218.10:c.65127T>G (TTN) ENSP00000352154.5:p.Cys21709Trp
ENST00000342175.10:c.65328T>G (TTN) ENSP00000340554.6:p.Cys21776Trp
ENST00000342992.10:c.84243T>G (TTN) ENSP00000343764.6:p.Cys28081Trp
ENST00000359218.9:c.65127T>G (TTN) ENSP00000352154.5:p.Cys21709Trp
ENST00000460472.6:c.64752T>G (TTN) ENSP00000434586.1:p.Cys21584Trp
ENST00000589042.5:c.91947T>G (TTN) MANE Select ENSP00000467141.1:p.Cys30649Trp
ENST00000591111.5:c.87024T>G (TTN) ENSP00000465570.1:p.Cys29008Trp
ENST00000615779.4:c.87024T>G (TTN) ENSP00000483597.1:p.Cys29008Trp
NM_001256850.1:c.87024T>G (TTN) NP_001243779.1:p.Cys29008Trp
NM_001267550.2:c.91947T>G (TTN) MANE Select NP_001254479.2:p.Cys30649Trp
NM_003319.4:c.64752T>G (TTN) NP_003310.4:p.Cys21584Trp
NM_133378.4:c.84243T>G (TTN) NP_596869.4:p.Cys28081Trp
NM_133432.3:c.65127T>G (TTN) NP_597676.3:p.Cys21709Trp
NM_133437.4:c.65328T>G (TTN) NP_597681.4:p.Cys21776Trp
NR_038271.1:n.447-21525A>C (TTN-AS1)
NR_038272.1:n.2043+7414A>C (TTN-AS1)
XM_011511729.1:c.91044T>G (TTN) XP_011510031.1:p.Cys30348Trp
XM_011511730.1:c.64938T>G (TTN) XP_011510032.1:p.Cys21646Trp
XM_011511731.1:c.64797T>G (TTN) XP_011510033.1:p.Cys21599Trp
XM_017004819.1:c.90840T>G (TTN) XP_016860308.1:p.Cys30280Trp
XM_017004820.1:c.86238T>G (TTN) XP_016860309.1:p.Cys28746Trp
XM_017004821.1:c.86235T>G (TTN) XP_016860310.1:p.Cys28745Trp
XM_017004822.1:c.83277T>G (TTN) XP_016860311.1:p.Cys27759Trp
XM_017004823.1:c.64893T>G (TTN) XP_016860312.1:p.Cys21631Trp
XM_024453094.1:c.86388T>G (TTN) XP_024308862.1:p.Cys28796Trp
XM_024453095.1:c.86385T>G (TTN) XP_024308863.1:p.Cys28795Trp
XM_024453096.1:c.85818T>G (TTN) XP_024308864.1:p.Cys28606Trp
XM_024453097.1:c.83160T>G (TTN) XP_024308865.1:p.Cys27720Trp
XM_024453098.1:c.83079T>G (TTN) XP_024308866.1:p.Cys27693Trp
XM_024453099.1:c.64842T>G (TTN) XP_024308867.1:p.Cys21614Trp
XM_024453100.1:c.54696T>G (TTN) XP_024308868.1:p.Cys18232Trp