Canonical Allele Identifier: CA349535011

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557701A>T , CM000664.2:g.178557701A>T GRCh38
NC_000002.11:g.179422428A>T , CM000664.1:g.179422428A>T GRCh37
NC_000002.10:g.179130674A>T NCBI36
NG_011618.3:g.278102T>A , LRG_391:g.278102T>A
NG_051363.1:g.39875A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.79949T>A (TTN) ENSP00000343764.6:p.Phe26650Tyr
ENST00000342175.11:c.61034T>A (TTN) ENSP00000340554.6:p.Phe20345Tyr
ENST00000359218.10:c.60833T>A (TTN) ENSP00000352154.5:p.Phe20278Tyr
ENST00000342175.10:c.61034T>A (TTN) ENSP00000340554.6:p.Phe20345Tyr
ENST00000342992.10:c.79949T>A (TTN) ENSP00000343764.6:p.Phe26650Tyr
ENST00000359218.9:c.60833T>A (TTN) ENSP00000352154.5:p.Phe20278Tyr
ENST00000460472.6:c.60458T>A (TTN) ENSP00000434586.1:p.Phe20153Tyr
ENST00000589042.5:c.87653T>A (TTN) MANE Select ENSP00000467141.1:p.Phe29218Tyr
ENST00000591111.5:c.82730T>A (TTN) ENSP00000465570.1:p.Phe27577Tyr
ENST00000615779.4:c.82730T>A (TTN) ENSP00000483597.1:p.Phe27577Tyr
NM_001256850.1:c.82730T>A (TTN) NP_001243779.1:p.Phe27577Tyr
NM_001267550.2:c.87653T>A (TTN) MANE Select NP_001254479.2:p.Phe29218Tyr
NM_003319.4:c.60458T>A (TTN) NP_003310.4:p.Phe20153Tyr
NM_133378.4:c.79949T>A (TTN) NP_596869.4:p.Phe26650Tyr
NM_133432.3:c.60833T>A (TTN) NP_597676.3:p.Phe20278Tyr
NM_133437.4:c.61034T>A (TTN) NP_597681.4:p.Phe20345Tyr
NR_038271.1:n.447-13599A>T (TTN-AS1)
NR_038272.1:n.2043+15340A>T (TTN-AS1)
XM_011511729.1:c.86750T>A (TTN) XP_011510031.1:p.Phe28917Tyr
XM_011511730.1:c.60644T>A (TTN) XP_011510032.1:p.Phe20215Tyr
XM_011511731.1:c.60503T>A (TTN) XP_011510033.1:p.Phe20168Tyr
XM_017004819.1:c.86546T>A (TTN) XP_016860308.1:p.Phe28849Tyr
XM_017004820.1:c.81944T>A (TTN) XP_016860309.1:p.Phe27315Tyr
XM_017004821.1:c.81941T>A (TTN) XP_016860310.1:p.Phe27314Tyr
XM_017004822.1:c.78983T>A (TTN) XP_016860311.1:p.Phe26328Tyr
XM_017004823.1:c.60599T>A (TTN) XP_016860312.1:p.Phe20200Tyr
XM_024453094.1:c.82094T>A (TTN) XP_024308862.1:p.Phe27365Tyr
XM_024453095.1:c.82091T>A (TTN) XP_024308863.1:p.Phe27364Tyr
XM_024453096.1:c.81524T>A (TTN) XP_024308864.1:p.Phe27175Tyr
XM_024453097.1:c.78866T>A (TTN) XP_024308865.1:p.Phe26289Tyr
XM_024453098.1:c.78785T>A (TTN) XP_024308866.1:p.Phe26262Tyr
XM_024453099.1:c.60548T>A (TTN) XP_024308867.1:p.Phe20183Tyr
XM_024453100.1:c.50402T>A (TTN) XP_024308868.1:p.Phe16801Tyr