Canonical Allele Identifier: CA349456572

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544360A>C , CM000664.2:g.178544360A>C GRCh38
NC_000002.11:g.179409087A>C , CM000664.1:g.179409087A>C GRCh37
NC_000002.10:g.179117333A>C NCBI36
NG_011618.3:g.291443T>G , LRG_391:g.291443T>G
NG_051363.1:g.26534A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88165T>G (TTN) ENSP00000343764.6:p.Tyr29389Asp
ENST00000342175.11:c.69250T>G (TTN) ENSP00000340554.6:p.Tyr23084Asp
ENST00000359218.10:c.69049T>G (TTN) ENSP00000352154.5:p.Tyr23017Asp
ENST00000342175.10:c.69250T>G (TTN) ENSP00000340554.6:p.Tyr23084Asp
ENST00000342992.10:c.88165T>G (TTN) ENSP00000343764.6:p.Tyr29389Asp
ENST00000359218.9:c.69049T>G (TTN) ENSP00000352154.5:p.Tyr23017Asp
ENST00000460472.6:c.68674T>G (TTN) ENSP00000434586.1:p.Tyr22892Asp
ENST00000589042.5:c.95869T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr31957Asp
ENST00000591111.5:c.90946T>G (TTN) ENSP00000465570.1:p.Tyr30316Asp
ENST00000615779.4:c.90946T>G (TTN) ENSP00000483597.1:p.Tyr30316Asp
NM_001256850.1:c.90946T>G (TTN) NP_001243779.1:p.Tyr30316Asp
NM_001267550.2:c.95869T>G (TTN) MANE Select NP_001254479.2:p.Tyr31957Asp
NM_003319.4:c.68674T>G (TTN) NP_003310.4:p.Tyr22892Asp
NM_133378.4:c.88165T>G (TTN) NP_596869.4:p.Tyr29389Asp
NM_133432.3:c.69049T>G (TTN) NP_597676.3:p.Tyr23017Asp
NM_133437.4:c.69250T>G (TTN) NP_597681.4:p.Tyr23084Asp
NR_038271.1:n.446+20724A>C (TTN-AS1)
NR_038272.1:n.2043+1999A>C (TTN-AS1)
XM_011511729.1:c.94966T>G (TTN) XP_011510031.1:p.Tyr31656Asp
XM_011511730.1:c.68860T>G (TTN) XP_011510032.1:p.Tyr22954Asp
XM_011511731.1:c.68719T>G (TTN) XP_011510033.1:p.Tyr22907Asp
XM_017004819.1:c.94762T>G (TTN) XP_016860308.1:p.Tyr31588Asp
XM_017004820.1:c.90160T>G (TTN) XP_016860309.1:p.Tyr30054Asp
XM_017004821.1:c.90157T>G (TTN) XP_016860310.1:p.Tyr30053Asp
XM_017004822.1:c.87199T>G (TTN) XP_016860311.1:p.Tyr29067Asp
XM_017004823.1:c.68815T>G (TTN) XP_016860312.1:p.Tyr22939Asp
XM_024453094.1:c.90310T>G (TTN) XP_024308862.1:p.Tyr30104Asp
XM_024453095.1:c.90307T>G (TTN) XP_024308863.1:p.Tyr30103Asp
XM_024453096.1:c.89740T>G (TTN) XP_024308864.1:p.Tyr29914Asp
XM_024453097.1:c.87082T>G (TTN) XP_024308865.1:p.Tyr29028Asp
XM_024453098.1:c.87001T>G (TTN) XP_024308866.1:p.Tyr29001Asp
XM_024453099.1:c.68764T>G (TTN) XP_024308867.1:p.Tyr22922Asp
XM_024453100.1:c.58618T>G (TTN) XP_024308868.1:p.Tyr19540Asp