Canonical Allele Identifier: CA349445923

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543285C>G , CM000664.2:g.178543285C>G GRCh38
NC_000002.11:g.179408012C>G , CM000664.1:g.179408012C>G GRCh37
NC_000002.10:g.179116258C>G NCBI36
NG_011618.3:g.292518G>C , LRG_391:g.292518G>C
NG_051363.1:g.25459C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88984G>C (TTN) ENSP00000343764.6:p.Gly29662Arg
ENST00000342175.11:c.70069G>C (TTN) ENSP00000340554.6:p.Gly23357Arg
ENST00000359218.10:c.69868G>C (TTN) ENSP00000352154.5:p.Gly23290Arg
ENST00000342175.10:c.70069G>C (TTN) ENSP00000340554.6:p.Gly23357Arg
ENST00000342992.10:c.88984G>C (TTN) ENSP00000343764.6:p.Gly29662Arg
ENST00000359218.9:c.69868G>C (TTN) ENSP00000352154.5:p.Gly23290Arg
ENST00000460472.6:c.69493G>C (TTN) ENSP00000434586.1:p.Gly23165Arg
ENST00000589042.5:c.96688G>C (TTN) MANE Select ENSP00000467141.1:p.Gly32230Arg
ENST00000591111.5:c.91765G>C (TTN) ENSP00000465570.1:p.Gly30589Arg
ENST00000615779.4:c.91765G>C (TTN) ENSP00000483597.1:p.Gly30589Arg
NM_001256850.1:c.91765G>C (TTN) NP_001243779.1:p.Gly30589Arg
NM_001267550.2:c.96688G>C (TTN) MANE Select NP_001254479.2:p.Gly32230Arg
NM_003319.4:c.69493G>C (TTN) NP_003310.4:p.Gly23165Arg
NM_133378.4:c.88984G>C (TTN) NP_596869.4:p.Gly29662Arg
NM_133432.3:c.69868G>C (TTN) NP_597676.3:p.Gly23290Arg
NM_133437.4:c.70069G>C (TTN) NP_597681.4:p.Gly23357Arg
NR_038271.1:n.446+19649C>G (TTN-AS1)
NR_038272.1:n.2043+924C>G (TTN-AS1)
XM_011511729.1:c.95785G>C (TTN) XP_011510031.1:p.Gly31929Arg
XM_011511730.1:c.69679G>C (TTN) XP_011510032.1:p.Gly23227Arg
XM_011511731.1:c.69538G>C (TTN) XP_011510033.1:p.Gly23180Arg
XM_017004819.1:c.95581G>C (TTN) XP_016860308.1:p.Gly31861Arg
XM_017004820.1:c.90979G>C (TTN) XP_016860309.1:p.Gly30327Arg
XM_017004821.1:c.90976G>C (TTN) XP_016860310.1:p.Gly30326Arg
XM_017004822.1:c.88018G>C (TTN) XP_016860311.1:p.Gly29340Arg
XM_017004823.1:c.69634G>C (TTN) XP_016860312.1:p.Gly23212Arg
XM_024453094.1:c.91129G>C (TTN) XP_024308862.1:p.Gly30377Arg
XM_024453095.1:c.91126G>C (TTN) XP_024308863.1:p.Gly30376Arg
XM_024453096.1:c.90559G>C (TTN) XP_024308864.1:p.Gly30187Arg
XM_024453097.1:c.87901G>C (TTN) XP_024308865.1:p.Gly29301Arg
XM_024453098.1:c.87820G>C (TTN) XP_024308866.1:p.Gly29274Arg
XM_024453099.1:c.69583G>C (TTN) XP_024308867.1:p.Gly23195Arg
XM_024453100.1:c.59437G>C (TTN) XP_024308868.1:p.Gly19813Arg