Canonical Allele Identifier: CA349502777

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551667A>T , CM000664.2:g.178551667A>T GRCh38
NC_000002.11:g.179416394A>T , CM000664.1:g.179416394A>T GRCh37
NC_000002.10:g.179124640A>T NCBI36
NG_011618.3:g.284136T>A , LRG_391:g.284136T>A
NG_051363.1:g.33841A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83529T>A (TTN) ENSP00000343764.6:p.Ser27843Arg
ENST00000342175.11:c.64614T>A (TTN) ENSP00000340554.6:p.Ser21538Arg
ENST00000359218.10:c.64413T>A (TTN) ENSP00000352154.5:p.Ser21471Arg
ENST00000342175.10:c.64614T>A (TTN) ENSP00000340554.6:p.Ser21538Arg
ENST00000342992.10:c.83529T>A (TTN) ENSP00000343764.6:p.Ser27843Arg
ENST00000359218.9:c.64413T>A (TTN) ENSP00000352154.5:p.Ser21471Arg
ENST00000460472.6:c.64038T>A (TTN) ENSP00000434586.1:p.Ser21346Arg
ENST00000589042.5:c.91233T>A (TTN) MANE Select ENSP00000467141.1:p.Ser30411Arg
ENST00000591111.5:c.86310T>A (TTN) ENSP00000465570.1:p.Ser28770Arg
ENST00000615779.4:c.86310T>A (TTN) ENSP00000483597.1:p.Ser28770Arg
NM_001256850.1:c.86310T>A (TTN) NP_001243779.1:p.Ser28770Arg
NM_001267550.2:c.91233T>A (TTN) MANE Select NP_001254479.2:p.Ser30411Arg
NM_003319.4:c.64038T>A (TTN) NP_003310.4:p.Ser21346Arg
NM_133378.4:c.83529T>A (TTN) NP_596869.4:p.Ser27843Arg
NM_133432.3:c.64413T>A (TTN) NP_597676.3:p.Ser21471Arg
NM_133437.4:c.64614T>A (TTN) NP_597681.4:p.Ser21538Arg
NR_038271.1:n.447-19633A>T (TTN-AS1)
NR_038272.1:n.2043+9306A>T (TTN-AS1)
XM_011511729.1:c.90330T>A (TTN) XP_011510031.1:p.Ser30110Arg
XM_011511730.1:c.64224T>A (TTN) XP_011510032.1:p.Ser21408Arg
XM_011511731.1:c.64083T>A (TTN) XP_011510033.1:p.Ser21361Arg
XM_017004819.1:c.90126T>A (TTN) XP_016860308.1:p.Ser30042Arg
XM_017004820.1:c.85524T>A (TTN) XP_016860309.1:p.Ser28508Arg
XM_017004821.1:c.85521T>A (TTN) XP_016860310.1:p.Ser28507Arg
XM_017004822.1:c.82563T>A (TTN) XP_016860311.1:p.Ser27521Arg
XM_017004823.1:c.64179T>A (TTN) XP_016860312.1:p.Ser21393Arg
XM_024453094.1:c.85674T>A (TTN) XP_024308862.1:p.Ser28558Arg
XM_024453095.1:c.85671T>A (TTN) XP_024308863.1:p.Ser28557Arg
XM_024453096.1:c.85104T>A (TTN) XP_024308864.1:p.Ser28368Arg
XM_024453097.1:c.82446T>A (TTN) XP_024308865.1:p.Ser27482Arg
XM_024453098.1:c.82365T>A (TTN) XP_024308866.1:p.Ser27455Arg
XM_024453099.1:c.64128T>A (TTN) XP_024308867.1:p.Ser21376Arg
XM_024453100.1:c.53982T>A (TTN) XP_024308868.1:p.Ser17994Arg