Canonical Allele Identifier: CA349405388

Linked Data

dbSNP Id: rs1688381864

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530073C>A , CM000664.2:g.178530073C>A GRCh38
NC_000002.11:g.179394800C>A , CM000664.1:g.179394800C>A GRCh37
NC_000002.10:g.179103046C>A NCBI36
NG_011618.3:g.305730G>T , LRG_391:g.305730G>T
NG_051363.1:g.12247C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98714G>T (TTN) ENSP00000343764.6:p.Gly32905Val
ENST00000342175.11:c.79799G>T (TTN) ENSP00000340554.6:p.Gly26600Val
ENST00000359218.10:c.79598G>T (TTN) ENSP00000352154.5:p.Gly26533Val
ENST00000342175.10:c.79799G>T (TTN) ENSP00000340554.6:p.Gly26600Val
ENST00000342992.10:c.98714G>T (TTN) ENSP00000343764.6:p.Gly32905Val
ENST00000359218.9:c.79598G>T (TTN) ENSP00000352154.5:p.Gly26533Val
ENST00000460472.6:c.79223G>T (TTN) ENSP00000434586.1:p.Gly26408Val
ENST00000589042.5:c.106418G>T (TTN) MANE Select ENSP00000467141.1:p.Gly35473Val
ENST00000591111.5:c.101495G>T (TTN) ENSP00000465570.1:p.Gly33832Val
ENST00000615779.4:c.101495G>T (TTN) ENSP00000483597.1:p.Gly33832Val
NM_001256850.1:c.101495G>T (TTN) NP_001243779.1:p.Gly33832Val
NM_001267550.2:c.106418G>T (TTN) MANE Select NP_001254479.2:p.Gly35473Val
NM_003319.4:c.79223G>T (TTN) NP_003310.4:p.Gly26408Val
NM_133378.4:c.98714G>T (TTN) NP_596869.4:p.Gly32905Val
NM_133432.3:c.79598G>T (TTN) NP_597676.3:p.Gly26533Val
NM_133437.4:c.79799G>T (TTN) NP_597681.4:p.Gly26600Val
NR_038271.1:n.446+6437C>A (TTN-AS1)
NR_038272.1:n.220-5659C>A (TTN-AS1)
XM_011511729.1:c.105515G>T (TTN) XP_011510031.1:p.Gly35172Val
XM_011511730.1:c.79409G>T (TTN) XP_011510032.1:p.Gly26470Val
XM_011511731.1:c.79268G>T (TTN) XP_011510033.1:p.Gly26423Val
XM_017004819.1:c.105311G>T (TTN) XP_016860308.1:p.Gly35104Val
XM_017004820.1:c.100709G>T (TTN) XP_016860309.1:p.Gly33570Val
XM_017004821.1:c.100706G>T (TTN) XP_016860310.1:p.Gly33569Val
XM_017004822.1:c.97748G>T (TTN) XP_016860311.1:p.Gly32583Val
XM_017004823.1:c.79364G>T (TTN) XP_016860312.1:p.Gly26455Val
XM_024453094.1:c.100859G>T (TTN) XP_024308862.1:p.Gly33620Val
XM_024453095.1:c.100856G>T (TTN) XP_024308863.1:p.Gly33619Val
XM_024453096.1:c.100289G>T (TTN) XP_024308864.1:p.Gly33430Val
XM_024453097.1:c.97631G>T (TTN) XP_024308865.1:p.Gly32544Val
XM_024453098.1:c.97550G>T (TTN) XP_024308866.1:p.Gly32517Val
XM_024453099.1:c.79313G>T (TTN) XP_024308867.1:p.Gly26438Val
XM_024453100.1:c.69167G>T (TTN) XP_024308868.1:p.Gly23056Val