Canonical Allele Identifier: CA349551940

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178560519T>C , CM000664.2:g.178560519T>C GRCh38
NC_000002.11:g.179425246T>C , CM000664.1:g.179425246T>C GRCh37
NC_000002.10:g.179133492T>C NCBI36
NG_011618.3:g.275284A>G , LRG_391:g.275284A>G
NG_051363.1:g.42693T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.77909A>G (TTN) ENSP00000343764.6:p.Glu25970Gly
ENST00000342175.11:c.58994A>G (TTN) ENSP00000340554.6:p.Glu19665Gly
ENST00000359218.10:c.58793A>G (TTN) ENSP00000352154.5:p.Glu19598Gly
ENST00000342175.10:c.58994A>G (TTN) ENSP00000340554.6:p.Glu19665Gly
ENST00000342992.10:c.77909A>G (TTN) ENSP00000343764.6:p.Glu25970Gly
ENST00000359218.9:c.58793A>G (TTN) ENSP00000352154.5:p.Glu19598Gly
ENST00000460472.6:c.58418A>G (TTN) ENSP00000434586.1:p.Glu19473Gly
ENST00000589042.5:c.85613A>G (TTN) MANE Select ENSP00000467141.1:p.Glu28538Gly
ENST00000591111.5:c.80690A>G (TTN) ENSP00000465570.1:p.Glu26897Gly
ENST00000615779.4:c.80690A>G (TTN) ENSP00000483597.1:p.Glu26897Gly
NM_001256850.1:c.80690A>G (TTN) NP_001243779.1:p.Glu26897Gly
NM_001267550.2:c.85613A>G (TTN) MANE Select NP_001254479.2:p.Glu28538Gly
NM_003319.4:c.58418A>G (TTN) NP_003310.4:p.Glu19473Gly
NM_133378.4:c.77909A>G (TTN) NP_596869.4:p.Glu25970Gly
NM_133432.3:c.58793A>G (TTN) NP_597676.3:p.Glu19598Gly
NM_133437.4:c.58994A>G (TTN) NP_597681.4:p.Glu19665Gly
NR_038271.1:n.447-10781T>C (TTN-AS1)
NR_038272.1:n.2043+18158T>C (TTN-AS1)
XM_011511729.1:c.84710A>G (TTN) XP_011510031.1:p.Glu28237Gly
XM_011511730.1:c.58604A>G (TTN) XP_011510032.1:p.Glu19535Gly
XM_011511731.1:c.58463A>G (TTN) XP_011510033.1:p.Glu19488Gly
XM_017004819.1:c.84506A>G (TTN) XP_016860308.1:p.Glu28169Gly
XM_017004820.1:c.79904A>G (TTN) XP_016860309.1:p.Glu26635Gly
XM_017004821.1:c.79901A>G (TTN) XP_016860310.1:p.Glu26634Gly
XM_017004822.1:c.76943A>G (TTN) XP_016860311.1:p.Glu25648Gly
XM_017004823.1:c.58559A>G (TTN) XP_016860312.1:p.Glu19520Gly
XM_024453094.1:c.80054A>G (TTN) XP_024308862.1:p.Glu26685Gly
XM_024453095.1:c.80051A>G (TTN) XP_024308863.1:p.Glu26684Gly
XM_024453096.1:c.79484A>G (TTN) XP_024308864.1:p.Glu26495Gly
XM_024453097.1:c.76826A>G (TTN) XP_024308865.1:p.Glu25609Gly
XM_024453098.1:c.76745A>G (TTN) XP_024308866.1:p.Glu25582Gly
XM_024453099.1:c.58508A>G (TTN) XP_024308867.1:p.Glu19503Gly
XM_024453100.1:c.48362A>G (TTN) XP_024308868.1:p.Glu16121Gly