Canonical Allele Identifier: CA349405211

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530037G>T , CM000664.2:g.178530037G>T GRCh38
NC_000002.11:g.179394764G>T , CM000664.1:g.179394764G>T GRCh37
NC_000002.10:g.179103010G>T NCBI36
NG_011618.3:g.305766C>A , LRG_391:g.305766C>A
NG_051363.1:g.12211G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98750C>A (TTN) ENSP00000343764.6:p.Ser32917Tyr
ENST00000342175.11:c.79835C>A (TTN) ENSP00000340554.6:p.Ser26612Tyr
ENST00000359218.10:c.79634C>A (TTN) ENSP00000352154.5:p.Ser26545Tyr
ENST00000342175.10:c.79835C>A (TTN) ENSP00000340554.6:p.Ser26612Tyr
ENST00000342992.10:c.98750C>A (TTN) ENSP00000343764.6:p.Ser32917Tyr
ENST00000359218.9:c.79634C>A (TTN) ENSP00000352154.5:p.Ser26545Tyr
ENST00000460472.6:c.79259C>A (TTN) ENSP00000434586.1:p.Ser26420Tyr
ENST00000589042.5:c.106454C>A (TTN) MANE Select ENSP00000467141.1:p.Ser35485Tyr
ENST00000591111.5:c.101531C>A (TTN) ENSP00000465570.1:p.Ser33844Tyr
ENST00000615779.4:c.101531C>A (TTN) ENSP00000483597.1:p.Ser33844Tyr
NM_001256850.1:c.101531C>A (TTN) NP_001243779.1:p.Ser33844Tyr
NM_001267550.2:c.106454C>A (TTN) MANE Select NP_001254479.2:p.Ser35485Tyr
NM_003319.4:c.79259C>A (TTN) NP_003310.4:p.Ser26420Tyr
NM_133378.4:c.98750C>A (TTN) NP_596869.4:p.Ser32917Tyr
NM_133432.3:c.79634C>A (TTN) NP_597676.3:p.Ser26545Tyr
NM_133437.4:c.79835C>A (TTN) NP_597681.4:p.Ser26612Tyr
NR_038271.1:n.446+6401G>T (TTN-AS1)
NR_038272.1:n.220-5695G>T (TTN-AS1)
XM_011511729.1:c.105551C>A (TTN) XP_011510031.1:p.Ser35184Tyr
XM_011511730.1:c.79445C>A (TTN) XP_011510032.1:p.Ser26482Tyr
XM_011511731.1:c.79304C>A (TTN) XP_011510033.1:p.Ser26435Tyr
XM_017004819.1:c.105347C>A (TTN) XP_016860308.1:p.Ser35116Tyr
XM_017004820.1:c.100745C>A (TTN) XP_016860309.1:p.Ser33582Tyr
XM_017004821.1:c.100742C>A (TTN) XP_016860310.1:p.Ser33581Tyr
XM_017004822.1:c.97784C>A (TTN) XP_016860311.1:p.Ser32595Tyr
XM_017004823.1:c.79400C>A (TTN) XP_016860312.1:p.Ser26467Tyr
XM_024453094.1:c.100895C>A (TTN) XP_024308862.1:p.Ser33632Tyr
XM_024453095.1:c.100892C>A (TTN) XP_024308863.1:p.Ser33631Tyr
XM_024453096.1:c.100325C>A (TTN) XP_024308864.1:p.Ser33442Tyr
XM_024453097.1:c.97667C>A (TTN) XP_024308865.1:p.Ser32556Tyr
XM_024453098.1:c.97586C>A (TTN) XP_024308866.1:p.Ser32529Tyr
XM_024453099.1:c.79349C>A (TTN) XP_024308867.1:p.Ser26450Tyr
XM_024453100.1:c.69203C>A (TTN) XP_024308868.1:p.Ser23068Tyr