Canonical Allele Identifier: CA349456571

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88166A>C (TTN) ENSP00000343764.6:p.Tyr29389Ser
ENST00000342175.11:c.69251A>C (TTN) ENSP00000340554.6:p.Tyr23084Ser
ENST00000359218.10:c.69050A>C (TTN) ENSP00000352154.5:p.Tyr23017Ser
ENST00000342175.10:c.69251A>C (TTN) ENSP00000340554.6:p.Tyr23084Ser
ENST00000342992.10:c.88166A>C (TTN) ENSP00000343764.6:p.Tyr29389Ser
ENST00000359218.9:c.69050A>C (TTN) ENSP00000352154.5:p.Tyr23017Ser
ENST00000460472.6:c.68675A>C (TTN) ENSP00000434586.1:p.Tyr22892Ser
ENST00000589042.5:c.95870A>C (TTN) MANE Select ENSP00000467141.1:p.Tyr31957Ser
ENST00000591111.5:c.90947A>C (TTN) ENSP00000465570.1:p.Tyr30316Ser
ENST00000615779.4:c.90947A>C (TTN) ENSP00000483597.1:p.Tyr30316Ser
NM_001256850.1:c.90947A>C (TTN) NP_001243779.1:p.Tyr30316Ser
NM_001267550.2:c.95870A>C (TTN) MANE Select NP_001254479.2:p.Tyr31957Ser
NM_003319.4:c.68675A>C (TTN) NP_003310.4:p.Tyr22892Ser
NM_133378.4:c.88166A>C (TTN) NP_596869.4:p.Tyr29389Ser
NM_133432.3:c.69050A>C (TTN) NP_597676.3:p.Tyr23017Ser
NM_133437.4:c.69251A>C (TTN) NP_597681.4:p.Tyr23084Ser
NR_038271.1:n.446+20723T>G (TTN-AS1)
NR_038272.1:n.2043+1998T>G (TTN-AS1)
XM_011511729.1:c.94967A>C (TTN) XP_011510031.1:p.Tyr31656Ser
XM_011511730.1:c.68861A>C (TTN) XP_011510032.1:p.Tyr22954Ser
XM_011511731.1:c.68720A>C (TTN) XP_011510033.1:p.Tyr22907Ser
XM_017004819.1:c.94763A>C (TTN) XP_016860308.1:p.Tyr31588Ser
XM_017004820.1:c.90161A>C (TTN) XP_016860309.1:p.Tyr30054Ser
XM_017004821.1:c.90158A>C (TTN) XP_016860310.1:p.Tyr30053Ser
XM_017004822.1:c.87200A>C (TTN) XP_016860311.1:p.Tyr29067Ser
XM_017004823.1:c.68816A>C (TTN) XP_016860312.1:p.Tyr22939Ser
XM_024453094.1:c.90311A>C (TTN) XP_024308862.1:p.Tyr30104Ser
XM_024453095.1:c.90308A>C (TTN) XP_024308863.1:p.Tyr30103Ser
XM_024453096.1:c.89741A>C (TTN) XP_024308864.1:p.Tyr29914Ser
XM_024453097.1:c.87083A>C (TTN) XP_024308865.1:p.Tyr29028Ser
XM_024453098.1:c.87002A>C (TTN) XP_024308866.1:p.Tyr29001Ser
XM_024453099.1:c.68765A>C (TTN) XP_024308867.1:p.Tyr22922Ser
XM_024453100.1:c.58619A>C (TTN) XP_024308868.1:p.Tyr19540Ser