Canonical Allele Identifier: CA349535658

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557811A>T , CM000664.2:g.178557811A>T GRCh38
NC_000002.11:g.179422538A>T , CM000664.1:g.179422538A>T GRCh37
NC_000002.10:g.179130784A>T NCBI36
NG_011618.3:g.277992T>A , LRG_391:g.277992T>A
NG_051363.1:g.39985A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.79839T>A (TTN) ENSP00000343764.6:p.Ser26613Arg
ENST00000342175.11:c.60924T>A (TTN) ENSP00000340554.6:p.Ser20308Arg
ENST00000359218.10:c.60723T>A (TTN) ENSP00000352154.5:p.Ser20241Arg
ENST00000342175.10:c.60924T>A (TTN) ENSP00000340554.6:p.Ser20308Arg
ENST00000342992.10:c.79839T>A (TTN) ENSP00000343764.6:p.Ser26613Arg
ENST00000359218.9:c.60723T>A (TTN) ENSP00000352154.5:p.Ser20241Arg
ENST00000460472.6:c.60348T>A (TTN) ENSP00000434586.1:p.Ser20116Arg
ENST00000589042.5:c.87543T>A (TTN) MANE Select ENSP00000467141.1:p.Ser29181Arg
ENST00000591111.5:c.82620T>A (TTN) ENSP00000465570.1:p.Ser27540Arg
ENST00000615779.4:c.82620T>A (TTN) ENSP00000483597.1:p.Ser27540Arg
NM_001256850.1:c.82620T>A (TTN) NP_001243779.1:p.Ser27540Arg
NM_001267550.2:c.87543T>A (TTN) MANE Select NP_001254479.2:p.Ser29181Arg
NM_003319.4:c.60348T>A (TTN) NP_003310.4:p.Ser20116Arg
NM_133378.4:c.79839T>A (TTN) NP_596869.4:p.Ser26613Arg
NM_133432.3:c.60723T>A (TTN) NP_597676.3:p.Ser20241Arg
NM_133437.4:c.60924T>A (TTN) NP_597681.4:p.Ser20308Arg
NR_038271.1:n.447-13489A>T (TTN-AS1)
NR_038272.1:n.2043+15450A>T (TTN-AS1)
XM_011511729.1:c.86640T>A (TTN) XP_011510031.1:p.Ser28880Arg
XM_011511730.1:c.60534T>A (TTN) XP_011510032.1:p.Ser20178Arg
XM_011511731.1:c.60393T>A (TTN) XP_011510033.1:p.Ser20131Arg
XM_017004819.1:c.86436T>A (TTN) XP_016860308.1:p.Ser28812Arg
XM_017004820.1:c.81834T>A (TTN) XP_016860309.1:p.Ser27278Arg
XM_017004821.1:c.81831T>A (TTN) XP_016860310.1:p.Ser27277Arg
XM_017004822.1:c.78873T>A (TTN) XP_016860311.1:p.Ser26291Arg
XM_017004823.1:c.60489T>A (TTN) XP_016860312.1:p.Ser20163Arg
XM_024453094.1:c.81984T>A (TTN) XP_024308862.1:p.Ser27328Arg
XM_024453095.1:c.81981T>A (TTN) XP_024308863.1:p.Ser27327Arg
XM_024453096.1:c.81414T>A (TTN) XP_024308864.1:p.Ser27138Arg
XM_024453097.1:c.78756T>A (TTN) XP_024308865.1:p.Ser26252Arg
XM_024453098.1:c.78675T>A (TTN) XP_024308866.1:p.Ser26225Arg
XM_024453099.1:c.60438T>A (TTN) XP_024308867.1:p.Ser20146Arg
XM_024453100.1:c.50292T>A (TTN) XP_024308868.1:p.Ser16764Arg