Canonical Allele Identifier: CA349450576

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88574A>C (TTN) ENSP00000343764.6:p.Lys29525Thr
ENST00000342175.11:c.69659A>C (TTN) ENSP00000340554.6:p.Lys23220Thr
ENST00000359218.10:c.69458A>C (TTN) ENSP00000352154.5:p.Lys23153Thr
ENST00000342175.10:c.69659A>C (TTN) ENSP00000340554.6:p.Lys23220Thr
ENST00000342992.10:c.88574A>C (TTN) ENSP00000343764.6:p.Lys29525Thr
ENST00000359218.9:c.69458A>C (TTN) ENSP00000352154.5:p.Lys23153Thr
ENST00000460472.6:c.69083A>C (TTN) ENSP00000434586.1:p.Lys23028Thr
ENST00000589042.5:c.96278A>C (TTN) MANE Select ENSP00000467141.1:p.Lys32093Thr
ENST00000591111.5:c.91355A>C (TTN) ENSP00000465570.1:p.Lys30452Thr
ENST00000615779.4:c.91355A>C (TTN) ENSP00000483597.1:p.Lys30452Thr
NM_001256850.1:c.91355A>C (TTN) NP_001243779.1:p.Lys30452Thr
NM_001267550.2:c.96278A>C (TTN) MANE Select NP_001254479.2:p.Lys32093Thr
NM_003319.4:c.69083A>C (TTN) NP_003310.4:p.Lys23028Thr
NM_133378.4:c.88574A>C (TTN) NP_596869.4:p.Lys29525Thr
NM_133432.3:c.69458A>C (TTN) NP_597676.3:p.Lys23153Thr
NM_133437.4:c.69659A>C (TTN) NP_597681.4:p.Lys23220Thr
NR_038271.1:n.446+20230T>G (TTN-AS1)
NR_038272.1:n.2043+1505T>G (TTN-AS1)
XM_011511729.1:c.95375A>C (TTN) XP_011510031.1:p.Lys31792Thr
XM_011511730.1:c.69269A>C (TTN) XP_011510032.1:p.Lys23090Thr
XM_011511731.1:c.69128A>C (TTN) XP_011510033.1:p.Lys23043Thr
XM_017004819.1:c.95171A>C (TTN) XP_016860308.1:p.Lys31724Thr
XM_017004820.1:c.90569A>C (TTN) XP_016860309.1:p.Lys30190Thr
XM_017004821.1:c.90566A>C (TTN) XP_016860310.1:p.Lys30189Thr
XM_017004822.1:c.87608A>C (TTN) XP_016860311.1:p.Lys29203Thr
XM_017004823.1:c.69224A>C (TTN) XP_016860312.1:p.Lys23075Thr
XM_024453094.1:c.90719A>C (TTN) XP_024308862.1:p.Lys30240Thr
XM_024453095.1:c.90716A>C (TTN) XP_024308863.1:p.Lys30239Thr
XM_024453096.1:c.90149A>C (TTN) XP_024308864.1:p.Lys30050Thr
XM_024453097.1:c.87491A>C (TTN) XP_024308865.1:p.Lys29164Thr
XM_024453098.1:c.87410A>C (TTN) XP_024308866.1:p.Lys29137Thr
XM_024453099.1:c.69173A>C (TTN) XP_024308867.1:p.Lys23058Thr
XM_024453100.1:c.59027A>C (TTN) XP_024308868.1:p.Lys19676Thr