Canonical Allele Identifier: CA349405613

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530109G>C , CM000664.2:g.178530109G>C GRCh38
NC_000002.11:g.179394836G>C , CM000664.1:g.179394836G>C GRCh37
NC_000002.10:g.179103082G>C NCBI36
NG_011618.3:g.305694C>G , LRG_391:g.305694C>G
NG_051363.1:g.12283G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98678C>G (TTN) ENSP00000343764.6:p.Thr32893Arg
ENST00000342175.11:c.79763C>G (TTN) ENSP00000340554.6:p.Thr26588Arg
ENST00000359218.10:c.79562C>G (TTN) ENSP00000352154.5:p.Thr26521Arg
ENST00000342175.10:c.79763C>G (TTN) ENSP00000340554.6:p.Thr26588Arg
ENST00000342992.10:c.98678C>G (TTN) ENSP00000343764.6:p.Thr32893Arg
ENST00000359218.9:c.79562C>G (TTN) ENSP00000352154.5:p.Thr26521Arg
ENST00000460472.6:c.79187C>G (TTN) ENSP00000434586.1:p.Thr26396Arg
ENST00000589042.5:c.106382C>G (TTN) MANE Select ENSP00000467141.1:p.Thr35461Arg
ENST00000591111.5:c.101459C>G (TTN) ENSP00000465570.1:p.Thr33820Arg
ENST00000615779.4:c.101459C>G (TTN) ENSP00000483597.1:p.Thr33820Arg
NM_001256850.1:c.101459C>G (TTN) NP_001243779.1:p.Thr33820Arg
NM_001267550.2:c.106382C>G (TTN) MANE Select NP_001254479.2:p.Thr35461Arg
NM_003319.4:c.79187C>G (TTN) NP_003310.4:p.Thr26396Arg
NM_133378.4:c.98678C>G (TTN) NP_596869.4:p.Thr32893Arg
NM_133432.3:c.79562C>G (TTN) NP_597676.3:p.Thr26521Arg
NM_133437.4:c.79763C>G (TTN) NP_597681.4:p.Thr26588Arg
NR_038271.1:n.446+6473G>C (TTN-AS1)
NR_038272.1:n.220-5623G>C (TTN-AS1)
XM_011511729.1:c.105479C>G (TTN) XP_011510031.1:p.Thr35160Arg
XM_011511730.1:c.79373C>G (TTN) XP_011510032.1:p.Thr26458Arg
XM_011511731.1:c.79232C>G (TTN) XP_011510033.1:p.Thr26411Arg
XM_017004819.1:c.105275C>G (TTN) XP_016860308.1:p.Thr35092Arg
XM_017004820.1:c.100673C>G (TTN) XP_016860309.1:p.Thr33558Arg
XM_017004821.1:c.100670C>G (TTN) XP_016860310.1:p.Thr33557Arg
XM_017004822.1:c.97712C>G (TTN) XP_016860311.1:p.Thr32571Arg
XM_017004823.1:c.79328C>G (TTN) XP_016860312.1:p.Thr26443Arg
XM_024453094.1:c.100823C>G (TTN) XP_024308862.1:p.Thr33608Arg
XM_024453095.1:c.100820C>G (TTN) XP_024308863.1:p.Thr33607Arg
XM_024453096.1:c.100253C>G (TTN) XP_024308864.1:p.Thr33418Arg
XM_024453097.1:c.97595C>G (TTN) XP_024308865.1:p.Thr32532Arg
XM_024453098.1:c.97514C>G (TTN) XP_024308866.1:p.Thr32505Arg
XM_024453099.1:c.79277C>G (TTN) XP_024308867.1:p.Thr26426Arg
XM_024453100.1:c.69131C>G (TTN) XP_024308868.1:p.Thr23044Arg