Canonical Allele Identifier: CA349450574

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543866T>C , CM000664.2:g.178543866T>C GRCh38
NC_000002.11:g.179408593T>C , CM000664.1:g.179408593T>C GRCh37
NC_000002.10:g.179116839T>C NCBI36
NG_011618.3:g.291937A>G , LRG_391:g.291937A>G
NG_051363.1:g.26040T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88574A>G (TTN) ENSP00000343764.6:p.Lys29525Arg
ENST00000342175.11:c.69659A>G (TTN) ENSP00000340554.6:p.Lys23220Arg
ENST00000359218.10:c.69458A>G (TTN) ENSP00000352154.5:p.Lys23153Arg
ENST00000342175.10:c.69659A>G (TTN) ENSP00000340554.6:p.Lys23220Arg
ENST00000342992.10:c.88574A>G (TTN) ENSP00000343764.6:p.Lys29525Arg
ENST00000359218.9:c.69458A>G (TTN) ENSP00000352154.5:p.Lys23153Arg
ENST00000460472.6:c.69083A>G (TTN) ENSP00000434586.1:p.Lys23028Arg
ENST00000589042.5:c.96278A>G (TTN) MANE Select ENSP00000467141.1:p.Lys32093Arg
ENST00000591111.5:c.91355A>G (TTN) ENSP00000465570.1:p.Lys30452Arg
ENST00000615779.4:c.91355A>G (TTN) ENSP00000483597.1:p.Lys30452Arg
NM_001256850.1:c.91355A>G (TTN) NP_001243779.1:p.Lys30452Arg
NM_001267550.2:c.96278A>G (TTN) MANE Select NP_001254479.2:p.Lys32093Arg
NM_003319.4:c.69083A>G (TTN) NP_003310.4:p.Lys23028Arg
NM_133378.4:c.88574A>G (TTN) NP_596869.4:p.Lys29525Arg
NM_133432.3:c.69458A>G (TTN) NP_597676.3:p.Lys23153Arg
NM_133437.4:c.69659A>G (TTN) NP_597681.4:p.Lys23220Arg
NR_038271.1:n.446+20230T>C (TTN-AS1)
NR_038272.1:n.2043+1505T>C (TTN-AS1)
XM_011511729.1:c.95375A>G (TTN) XP_011510031.1:p.Lys31792Arg
XM_011511730.1:c.69269A>G (TTN) XP_011510032.1:p.Lys23090Arg
XM_011511731.1:c.69128A>G (TTN) XP_011510033.1:p.Lys23043Arg
XM_017004819.1:c.95171A>G (TTN) XP_016860308.1:p.Lys31724Arg
XM_017004820.1:c.90569A>G (TTN) XP_016860309.1:p.Lys30190Arg
XM_017004821.1:c.90566A>G (TTN) XP_016860310.1:p.Lys30189Arg
XM_017004822.1:c.87608A>G (TTN) XP_016860311.1:p.Lys29203Arg
XM_017004823.1:c.69224A>G (TTN) XP_016860312.1:p.Lys23075Arg
XM_024453094.1:c.90719A>G (TTN) XP_024308862.1:p.Lys30240Arg
XM_024453095.1:c.90716A>G (TTN) XP_024308863.1:p.Lys30239Arg
XM_024453096.1:c.90149A>G (TTN) XP_024308864.1:p.Lys30050Arg
XM_024453097.1:c.87491A>G (TTN) XP_024308865.1:p.Lys29164Arg
XM_024453098.1:c.87410A>G (TTN) XP_024308866.1:p.Lys29137Arg
XM_024453099.1:c.69173A>G (TTN) XP_024308867.1:p.Lys23058Arg
XM_024453100.1:c.59027A>G (TTN) XP_024308868.1:p.Lys19676Arg