Canonical Allele Identifier: CA349405403

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530074C>G , CM000664.2:g.178530074C>G GRCh38
NC_000002.11:g.179394801C>G , CM000664.1:g.179394801C>G GRCh37
NC_000002.10:g.179103047C>G NCBI36
NG_011618.3:g.305729G>C , LRG_391:g.305729G>C
NG_051363.1:g.12248C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98713G>C (TTN) ENSP00000343764.6:p.Gly32905Arg
ENST00000342175.11:c.79798G>C (TTN) ENSP00000340554.6:p.Gly26600Arg
ENST00000359218.10:c.79597G>C (TTN) ENSP00000352154.5:p.Gly26533Arg
ENST00000342175.10:c.79798G>C (TTN) ENSP00000340554.6:p.Gly26600Arg
ENST00000342992.10:c.98713G>C (TTN) ENSP00000343764.6:p.Gly32905Arg
ENST00000359218.9:c.79597G>C (TTN) ENSP00000352154.5:p.Gly26533Arg
ENST00000460472.6:c.79222G>C (TTN) ENSP00000434586.1:p.Gly26408Arg
ENST00000589042.5:c.106417G>C (TTN) MANE Select ENSP00000467141.1:p.Gly35473Arg
ENST00000591111.5:c.101494G>C (TTN) ENSP00000465570.1:p.Gly33832Arg
ENST00000615779.4:c.101494G>C (TTN) ENSP00000483597.1:p.Gly33832Arg
NM_001256850.1:c.101494G>C (TTN) NP_001243779.1:p.Gly33832Arg
NM_001267550.2:c.106417G>C (TTN) MANE Select NP_001254479.2:p.Gly35473Arg
NM_003319.4:c.79222G>C (TTN) NP_003310.4:p.Gly26408Arg
NM_133378.4:c.98713G>C (TTN) NP_596869.4:p.Gly32905Arg
NM_133432.3:c.79597G>C (TTN) NP_597676.3:p.Gly26533Arg
NM_133437.4:c.79798G>C (TTN) NP_597681.4:p.Gly26600Arg
NR_038271.1:n.446+6438C>G (TTN-AS1)
NR_038272.1:n.220-5658C>G (TTN-AS1)
XM_011511729.1:c.105514G>C (TTN) XP_011510031.1:p.Gly35172Arg
XM_011511730.1:c.79408G>C (TTN) XP_011510032.1:p.Gly26470Arg
XM_011511731.1:c.79267G>C (TTN) XP_011510033.1:p.Gly26423Arg
XM_017004819.1:c.105310G>C (TTN) XP_016860308.1:p.Gly35104Arg
XM_017004820.1:c.100708G>C (TTN) XP_016860309.1:p.Gly33570Arg
XM_017004821.1:c.100705G>C (TTN) XP_016860310.1:p.Gly33569Arg
XM_017004822.1:c.97747G>C (TTN) XP_016860311.1:p.Gly32583Arg
XM_017004823.1:c.79363G>C (TTN) XP_016860312.1:p.Gly26455Arg
XM_024453094.1:c.100858G>C (TTN) XP_024308862.1:p.Gly33620Arg
XM_024453095.1:c.100855G>C (TTN) XP_024308863.1:p.Gly33619Arg
XM_024453096.1:c.100288G>C (TTN) XP_024308864.1:p.Gly33430Arg
XM_024453097.1:c.97630G>C (TTN) XP_024308865.1:p.Gly32544Arg
XM_024453098.1:c.97549G>C (TTN) XP_024308866.1:p.Gly32517Arg
XM_024453099.1:c.79312G>C (TTN) XP_024308867.1:p.Gly26438Arg
XM_024453100.1:c.69166G>C (TTN) XP_024308868.1:p.Gly23056Arg