Canonical Allele Identifier: CA349621855

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178570554C>G , CM000664.2:g.178570554C>G GRCh38
NC_000002.11:g.179435281C>G , CM000664.1:g.179435281C>G GRCh37
NC_000002.10:g.179143527C>G NCBI36
NG_011618.3:g.265249G>C , LRG_391:g.265249G>C
NG_051363.1:g.52728C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.67874G>C (TTN) ENSP00000343764.6:p.Arg22625Thr
ENST00000342175.11:c.48959G>C (TTN) ENSP00000340554.6:p.Arg16320Thr
ENST00000359218.10:c.48758G>C (TTN) ENSP00000352154.5:p.Arg16253Thr
ENST00000342175.10:c.48959G>C (TTN) ENSP00000340554.6:p.Arg16320Thr
ENST00000342992.10:c.67874G>C (TTN) ENSP00000343764.6:p.Arg22625Thr
ENST00000359218.9:c.48758G>C (TTN) ENSP00000352154.5:p.Arg16253Thr
ENST00000460472.6:c.48383G>C (TTN) ENSP00000434586.1:p.Arg16128Thr
ENST00000589042.5:c.75578G>C (TTN) MANE Select ENSP00000467141.1:p.Arg25193Thr
ENST00000591111.5:c.70655G>C (TTN) ENSP00000465570.1:p.Arg23552Thr
ENST00000615779.4:c.70655G>C (TTN) ENSP00000483597.1:p.Arg23552Thr
NM_001256850.1:c.70655G>C (TTN) NP_001243779.1:p.Arg23552Thr
NM_001267550.2:c.75578G>C (TTN) MANE Select NP_001254479.2:p.Arg25193Thr
NM_003319.4:c.48383G>C (TTN) NP_003310.4:p.Arg16128Thr
NM_133378.4:c.67874G>C (TTN) NP_596869.4:p.Arg22625Thr
NM_133432.3:c.48758G>C (TTN) NP_597676.3:p.Arg16253Thr
NM_133437.4:c.48959G>C (TTN) NP_597681.4:p.Arg16320Thr
NR_038271.1:n.447-746C>G (TTN-AS1)
NR_038272.1:n.2044-12018C>G (TTN-AS1)
XM_011511729.1:c.74675G>C (TTN) XP_011510031.1:p.Arg24892Thr
XM_011511730.1:c.48569G>C (TTN) XP_011510032.1:p.Arg16190Thr
XM_011511731.1:c.48428G>C (TTN) XP_011510033.1:p.Arg16143Thr
XM_017004819.1:c.74471G>C (TTN) XP_016860308.1:p.Arg24824Thr
XM_017004820.1:c.69869G>C (TTN) XP_016860309.1:p.Arg23290Thr
XM_017004821.1:c.69866G>C (TTN) XP_016860310.1:p.Arg23289Thr
XM_017004822.1:c.66908G>C (TTN) XP_016860311.1:p.Arg22303Thr
XM_017004823.1:c.48524G>C (TTN) XP_016860312.1:p.Arg16175Thr
XM_024453094.1:c.70019G>C (TTN) XP_024308862.1:p.Arg23340Thr
XM_024453095.1:c.70016G>C (TTN) XP_024308863.1:p.Arg23339Thr
XM_024453096.1:c.69449G>C (TTN) XP_024308864.1:p.Arg23150Thr
XM_024453097.1:c.66791G>C (TTN) XP_024308865.1:p.Arg22264Thr
XM_024453098.1:c.66710G>C (TTN) XP_024308866.1:p.Arg22237Thr
XM_024453099.1:c.48473G>C (TTN) XP_024308867.1:p.Arg16158Thr
XM_024453100.1:c.38327G>C (TTN) XP_024308868.1:p.Arg12776Thr