Canonical Allele Identifier: CA349611892

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568924T>G , CM000664.2:g.178568924T>G GRCh38
NC_000002.11:g.179433651T>G , CM000664.1:g.179433651T>G GRCh37
NC_000002.10:g.179141897T>G NCBI36
NG_011618.3:g.266879A>C , LRG_391:g.266879A>C
NG_051363.1:g.51098T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.69504A>C (TTN) ENSP00000343764.6:p.Glu23168Asp
ENST00000342175.11:c.50589A>C (TTN) ENSP00000340554.6:p.Glu16863Asp
ENST00000359218.10:c.50388A>C (TTN) ENSP00000352154.5:p.Glu16796Asp
ENST00000342175.10:c.50589A>C (TTN) ENSP00000340554.6:p.Glu16863Asp
ENST00000342992.10:c.69504A>C (TTN) ENSP00000343764.6:p.Glu23168Asp
ENST00000359218.9:c.50388A>C (TTN) ENSP00000352154.5:p.Glu16796Asp
ENST00000460472.6:c.50013A>C (TTN) ENSP00000434586.1:p.Glu16671Asp
ENST00000589042.5:c.77208A>C (TTN) MANE Select ENSP00000467141.1:p.Glu25736Asp
ENST00000591111.5:c.72285A>C (TTN) ENSP00000465570.1:p.Glu24095Asp
ENST00000615779.4:c.72285A>C (TTN) ENSP00000483597.1:p.Glu24095Asp
NM_001256850.1:c.72285A>C (TTN) NP_001243779.1:p.Glu24095Asp
NM_001267550.2:c.77208A>C (TTN) MANE Select NP_001254479.2:p.Glu25736Asp
NM_003319.4:c.50013A>C (TTN) NP_003310.4:p.Glu16671Asp
NM_133378.4:c.69504A>C (TTN) NP_596869.4:p.Glu23168Asp
NM_133432.3:c.50388A>C (TTN) NP_597676.3:p.Glu16796Asp
NM_133437.4:c.50589A>C (TTN) NP_597681.4:p.Glu16863Asp
NR_038271.1:n.447-2376T>G (TTN-AS1)
NR_038272.1:n.2044-13648T>G (TTN-AS1)
XM_011511729.1:c.76305A>C (TTN) XP_011510031.1:p.Glu25435Asp
XM_011511730.1:c.50199A>C (TTN) XP_011510032.1:p.Glu16733Asp
XM_011511731.1:c.50058A>C (TTN) XP_011510033.1:p.Glu16686Asp
XM_017004819.1:c.76101A>C (TTN) XP_016860308.1:p.Glu25367Asp
XM_017004820.1:c.71499A>C (TTN) XP_016860309.1:p.Glu23833Asp
XM_017004821.1:c.71496A>C (TTN) XP_016860310.1:p.Glu23832Asp
XM_017004822.1:c.68538A>C (TTN) XP_016860311.1:p.Glu22846Asp
XM_017004823.1:c.50154A>C (TTN) XP_016860312.1:p.Glu16718Asp
XM_024453094.1:c.71649A>C (TTN) XP_024308862.1:p.Glu23883Asp
XM_024453095.1:c.71646A>C (TTN) XP_024308863.1:p.Glu23882Asp
XM_024453096.1:c.71079A>C (TTN) XP_024308864.1:p.Glu23693Asp
XM_024453097.1:c.68421A>C (TTN) XP_024308865.1:p.Glu22807Asp
XM_024453098.1:c.68340A>C (TTN) XP_024308866.1:p.Glu22780Asp
XM_024453099.1:c.50103A>C (TTN) XP_024308867.1:p.Glu16701Asp
XM_024453100.1:c.39957A>C (TTN) XP_024308868.1:p.Glu13319Asp