Canonical Allele Identifier: CA349411811

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532213T>C , CM000664.2:g.178532213T>C GRCh38
NC_000002.11:g.179396940T>C , CM000664.1:g.179396940T>C GRCh37
NC_000002.10:g.179105186T>C NCBI36
NG_011618.3:g.303590A>G , LRG_391:g.303590A>G
NG_051363.1:g.14387T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96698A>G (TTN) ENSP00000343764.6:p.Lys32233Arg
ENST00000342175.11:c.77783A>G (TTN) ENSP00000340554.6:p.Lys25928Arg
ENST00000359218.10:c.77582A>G (TTN) ENSP00000352154.5:p.Lys25861Arg
ENST00000342175.10:c.77783A>G (TTN) ENSP00000340554.6:p.Lys25928Arg
ENST00000342992.10:c.96698A>G (TTN) ENSP00000343764.6:p.Lys32233Arg
ENST00000359218.9:c.77582A>G (TTN) ENSP00000352154.5:p.Lys25861Arg
ENST00000460472.6:c.77207A>G (TTN) ENSP00000434586.1:p.Lys25736Arg
ENST00000589042.5:c.104402A>G (TTN) MANE Select ENSP00000467141.1:p.Lys34801Arg
ENST00000591111.5:c.99479A>G (TTN) ENSP00000465570.1:p.Lys33160Arg
ENST00000615779.4:c.99479A>G (TTN) ENSP00000483597.1:p.Lys33160Arg
NM_001256850.1:c.99479A>G (TTN) NP_001243779.1:p.Lys33160Arg
NM_001267550.2:c.104402A>G (TTN) MANE Select NP_001254479.2:p.Lys34801Arg
NM_003319.4:c.77207A>G (TTN) NP_003310.4:p.Lys25736Arg
NM_133378.4:c.96698A>G (TTN) NP_596869.4:p.Lys32233Arg
NM_133432.3:c.77582A>G (TTN) NP_597676.3:p.Lys25861Arg
NM_133437.4:c.77783A>G (TTN) NP_597681.4:p.Lys25928Arg
NR_038271.1:n.446+8577T>C (TTN-AS1)
NR_038272.1:n.220-3519T>C (TTN-AS1)
XM_011511729.1:c.103499A>G (TTN) XP_011510031.1:p.Lys34500Arg
XM_011511730.1:c.77393A>G (TTN) XP_011510032.1:p.Lys25798Arg
XM_011511731.1:c.77252A>G (TTN) XP_011510033.1:p.Lys25751Arg
XM_017004819.1:c.103295A>G (TTN) XP_016860308.1:p.Lys34432Arg
XM_017004820.1:c.98693A>G (TTN) XP_016860309.1:p.Lys32898Arg
XM_017004821.1:c.98690A>G (TTN) XP_016860310.1:p.Lys32897Arg
XM_017004822.1:c.95732A>G (TTN) XP_016860311.1:p.Lys31911Arg
XM_017004823.1:c.77348A>G (TTN) XP_016860312.1:p.Lys25783Arg
XM_024453094.1:c.98843A>G (TTN) XP_024308862.1:p.Lys32948Arg
XM_024453095.1:c.98840A>G (TTN) XP_024308863.1:p.Lys32947Arg
XM_024453096.1:c.98273A>G (TTN) XP_024308864.1:p.Lys32758Arg
XM_024453097.1:c.95615A>G (TTN) XP_024308865.1:p.Lys31872Arg
XM_024453098.1:c.95534A>G (TTN) XP_024308866.1:p.Lys31845Arg
XM_024453099.1:c.77297A>G (TTN) XP_024308867.1:p.Lys25766Arg
XM_024453100.1:c.67151A>G (TTN) XP_024308868.1:p.Lys22384Arg