Canonical Allele Identifier: CA349456569

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544359T>A , CM000664.2:g.178544359T>A GRCh38
NC_000002.11:g.179409086T>A , CM000664.1:g.179409086T>A GRCh37
NC_000002.10:g.179117332T>A NCBI36
NG_011618.3:g.291444A>T , LRG_391:g.291444A>T
NG_051363.1:g.26533T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88166A>T (TTN) ENSP00000343764.6:p.Tyr29389Phe
ENST00000342175.11:c.69251A>T (TTN) ENSP00000340554.6:p.Tyr23084Phe
ENST00000359218.10:c.69050A>T (TTN) ENSP00000352154.5:p.Tyr23017Phe
ENST00000342175.10:c.69251A>T (TTN) ENSP00000340554.6:p.Tyr23084Phe
ENST00000342992.10:c.88166A>T (TTN) ENSP00000343764.6:p.Tyr29389Phe
ENST00000359218.9:c.69050A>T (TTN) ENSP00000352154.5:p.Tyr23017Phe
ENST00000460472.6:c.68675A>T (TTN) ENSP00000434586.1:p.Tyr22892Phe
ENST00000589042.5:c.95870A>T (TTN) MANE Select ENSP00000467141.1:p.Tyr31957Phe
ENST00000591111.5:c.90947A>T (TTN) ENSP00000465570.1:p.Tyr30316Phe
ENST00000615779.4:c.90947A>T (TTN) ENSP00000483597.1:p.Tyr30316Phe
NM_001256850.1:c.90947A>T (TTN) NP_001243779.1:p.Tyr30316Phe
NM_001267550.2:c.95870A>T (TTN) MANE Select NP_001254479.2:p.Tyr31957Phe
NM_003319.4:c.68675A>T (TTN) NP_003310.4:p.Tyr22892Phe
NM_133378.4:c.88166A>T (TTN) NP_596869.4:p.Tyr29389Phe
NM_133432.3:c.69050A>T (TTN) NP_597676.3:p.Tyr23017Phe
NM_133437.4:c.69251A>T (TTN) NP_597681.4:p.Tyr23084Phe
NR_038271.1:n.446+20723T>A (TTN-AS1)
NR_038272.1:n.2043+1998T>A (TTN-AS1)
XM_011511729.1:c.94967A>T (TTN) XP_011510031.1:p.Tyr31656Phe
XM_011511730.1:c.68861A>T (TTN) XP_011510032.1:p.Tyr22954Phe
XM_011511731.1:c.68720A>T (TTN) XP_011510033.1:p.Tyr22907Phe
XM_017004819.1:c.94763A>T (TTN) XP_016860308.1:p.Tyr31588Phe
XM_017004820.1:c.90161A>T (TTN) XP_016860309.1:p.Tyr30054Phe
XM_017004821.1:c.90158A>T (TTN) XP_016860310.1:p.Tyr30053Phe
XM_017004822.1:c.87200A>T (TTN) XP_016860311.1:p.Tyr29067Phe
XM_017004823.1:c.68816A>T (TTN) XP_016860312.1:p.Tyr22939Phe
XM_024453094.1:c.90311A>T (TTN) XP_024308862.1:p.Tyr30104Phe
XM_024453095.1:c.90308A>T (TTN) XP_024308863.1:p.Tyr30103Phe
XM_024453096.1:c.89741A>T (TTN) XP_024308864.1:p.Tyr29914Phe
XM_024453097.1:c.87083A>T (TTN) XP_024308865.1:p.Tyr29028Phe
XM_024453098.1:c.87002A>T (TTN) XP_024308866.1:p.Tyr29001Phe
XM_024453099.1:c.68765A>T (TTN) XP_024308867.1:p.Tyr22922Phe
XM_024453100.1:c.58619A>T (TTN) XP_024308868.1:p.Tyr19540Phe