Canonical Allele Identifier: CA349611392

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568837T>A , CM000664.2:g.178568837T>A GRCh38
NC_000002.11:g.179433564T>A , CM000664.1:g.179433564T>A GRCh37
NC_000002.10:g.179141810T>A NCBI36
NG_011618.3:g.266966A>T , LRG_391:g.266966A>T
NG_051363.1:g.51011T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.69591A>T (TTN) ENSP00000343764.6:p.Glu23197Asp
ENST00000342175.11:c.50676A>T (TTN) ENSP00000340554.6:p.Glu16892Asp
ENST00000359218.10:c.50475A>T (TTN) ENSP00000352154.5:p.Glu16825Asp
ENST00000342175.10:c.50676A>T (TTN) ENSP00000340554.6:p.Glu16892Asp
ENST00000342992.10:c.69591A>T (TTN) ENSP00000343764.6:p.Glu23197Asp
ENST00000359218.9:c.50475A>T (TTN) ENSP00000352154.5:p.Glu16825Asp
ENST00000460472.6:c.50100A>T (TTN) ENSP00000434586.1:p.Glu16700Asp
ENST00000589042.5:c.77295A>T (TTN) MANE Select ENSP00000467141.1:p.Glu25765Asp
ENST00000591111.5:c.72372A>T (TTN) ENSP00000465570.1:p.Glu24124Asp
ENST00000615779.4:c.72372A>T (TTN) ENSP00000483597.1:p.Glu24124Asp
NM_001256850.1:c.72372A>T (TTN) NP_001243779.1:p.Glu24124Asp
NM_001267550.2:c.77295A>T (TTN) MANE Select NP_001254479.2:p.Glu25765Asp
NM_003319.4:c.50100A>T (TTN) NP_003310.4:p.Glu16700Asp
NM_133378.4:c.69591A>T (TTN) NP_596869.4:p.Glu23197Asp
NM_133432.3:c.50475A>T (TTN) NP_597676.3:p.Glu16825Asp
NM_133437.4:c.50676A>T (TTN) NP_597681.4:p.Glu16892Asp
NR_038271.1:n.447-2463T>A (TTN-AS1)
NR_038272.1:n.2044-13735T>A (TTN-AS1)
XM_011511729.1:c.76392A>T (TTN) XP_011510031.1:p.Glu25464Asp
XM_011511730.1:c.50286A>T (TTN) XP_011510032.1:p.Glu16762Asp
XM_011511731.1:c.50145A>T (TTN) XP_011510033.1:p.Glu16715Asp
XM_017004819.1:c.76188A>T (TTN) XP_016860308.1:p.Glu25396Asp
XM_017004820.1:c.71586A>T (TTN) XP_016860309.1:p.Glu23862Asp
XM_017004821.1:c.71583A>T (TTN) XP_016860310.1:p.Glu23861Asp
XM_017004822.1:c.68625A>T (TTN) XP_016860311.1:p.Glu22875Asp
XM_017004823.1:c.50241A>T (TTN) XP_016860312.1:p.Glu16747Asp
XM_024453094.1:c.71736A>T (TTN) XP_024308862.1:p.Glu23912Asp
XM_024453095.1:c.71733A>T (TTN) XP_024308863.1:p.Glu23911Asp
XM_024453096.1:c.71166A>T (TTN) XP_024308864.1:p.Glu23722Asp
XM_024453097.1:c.68508A>T (TTN) XP_024308865.1:p.Glu22836Asp
XM_024453098.1:c.68427A>T (TTN) XP_024308866.1:p.Glu22809Asp
XM_024453099.1:c.50190A>T (TTN) XP_024308867.1:p.Glu16730Asp
XM_024453100.1:c.40044A>T (TTN) XP_024308868.1:p.Glu13348Asp