Canonical Allele Identifier: CA349467383

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546301A>T , CM000664.2:g.178546301A>T GRCh38
NC_000002.11:g.179411028A>T , CM000664.1:g.179411028A>T GRCh37
NC_000002.10:g.179119274A>T NCBI36
NG_011618.3:g.289502T>A , LRG_391:g.289502T>A
NG_051363.1:g.28475A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87326T>A (TTN) ENSP00000343764.6:p.Phe29109Tyr
ENST00000342175.11:c.68411T>A (TTN) ENSP00000340554.6:p.Phe22804Tyr
ENST00000359218.10:c.68210T>A (TTN) ENSP00000352154.5:p.Phe22737Tyr
ENST00000342175.10:c.68411T>A (TTN) ENSP00000340554.6:p.Phe22804Tyr
ENST00000342992.10:c.87326T>A (TTN) ENSP00000343764.6:p.Phe29109Tyr
ENST00000359218.9:c.68210T>A (TTN) ENSP00000352154.5:p.Phe22737Tyr
ENST00000460472.6:c.67835T>A (TTN) ENSP00000434586.1:p.Phe22612Tyr
ENST00000589042.5:c.95030T>A (TTN) MANE Select ENSP00000467141.1:p.Phe31677Tyr
ENST00000591111.5:c.90107T>A (TTN) ENSP00000465570.1:p.Phe30036Tyr
ENST00000615779.4:c.90107T>A (TTN) ENSP00000483597.1:p.Phe30036Tyr
NM_001256850.1:c.90107T>A (TTN) NP_001243779.1:p.Phe30036Tyr
NM_001267550.2:c.95030T>A (TTN) MANE Select NP_001254479.2:p.Phe31677Tyr
NM_003319.4:c.67835T>A (TTN) NP_003310.4:p.Phe22612Tyr
NM_133378.4:c.87326T>A (TTN) NP_596869.4:p.Phe29109Tyr
NM_133432.3:c.68210T>A (TTN) NP_597676.3:p.Phe22737Tyr
NM_133437.4:c.68411T>A (TTN) NP_597681.4:p.Phe22804Tyr
NR_038271.1:n.446+22665A>T (TTN-AS1)
NR_038272.1:n.2043+3940A>T (TTN-AS1)
XM_011511729.1:c.94127T>A (TTN) XP_011510031.1:p.Phe31376Tyr
XM_011511730.1:c.68021T>A (TTN) XP_011510032.1:p.Phe22674Tyr
XM_011511731.1:c.67880T>A (TTN) XP_011510033.1:p.Phe22627Tyr
XM_017004819.1:c.93923T>A (TTN) XP_016860308.1:p.Phe31308Tyr
XM_017004820.1:c.89321T>A (TTN) XP_016860309.1:p.Phe29774Tyr
XM_017004821.1:c.89318T>A (TTN) XP_016860310.1:p.Phe29773Tyr
XM_017004822.1:c.86360T>A (TTN) XP_016860311.1:p.Phe28787Tyr
XM_017004823.1:c.67976T>A (TTN) XP_016860312.1:p.Phe22659Tyr
XM_024453094.1:c.89471T>A (TTN) XP_024308862.1:p.Phe29824Tyr
XM_024453095.1:c.89468T>A (TTN) XP_024308863.1:p.Phe29823Tyr
XM_024453096.1:c.88901T>A (TTN) XP_024308864.1:p.Phe29634Tyr
XM_024453097.1:c.86243T>A (TTN) XP_024308865.1:p.Phe28748Tyr
XM_024453098.1:c.86162T>A (TTN) XP_024308866.1:p.Phe28721Tyr
XM_024453099.1:c.67925T>A (TTN) XP_024308867.1:p.Phe22642Tyr
XM_024453100.1:c.57779T>A (TTN) XP_024308868.1:p.Phe19260Tyr