Canonical Allele Identifier: CA349501426

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551097T>A , CM000664.2:g.178551097T>A GRCh38
NC_000002.11:g.179415824T>A , CM000664.1:g.179415824T>A GRCh37
NC_000002.10:g.179124070T>A NCBI36
NG_011618.3:g.284706A>T , LRG_391:g.284706A>T
NG_051363.1:g.33271T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83730A>T (TTN) ENSP00000343764.6:p.Glu27910Asp
ENST00000342175.11:c.64815A>T (TTN) ENSP00000340554.6:p.Glu21605Asp
ENST00000359218.10:c.64614A>T (TTN) ENSP00000352154.5:p.Glu21538Asp
ENST00000342175.10:c.64815A>T (TTN) ENSP00000340554.6:p.Glu21605Asp
ENST00000342992.10:c.83730A>T (TTN) ENSP00000343764.6:p.Glu27910Asp
ENST00000359218.9:c.64614A>T (TTN) ENSP00000352154.5:p.Glu21538Asp
ENST00000460472.6:c.64239A>T (TTN) ENSP00000434586.1:p.Glu21413Asp
ENST00000589042.5:c.91434A>T (TTN) MANE Select ENSP00000467141.1:p.Glu30478Asp
ENST00000591111.5:c.86511A>T (TTN) ENSP00000465570.1:p.Glu28837Asp
ENST00000615779.4:c.86511A>T (TTN) ENSP00000483597.1:p.Glu28837Asp
NM_001256850.1:c.86511A>T (TTN) NP_001243779.1:p.Glu28837Asp
NM_001267550.2:c.91434A>T (TTN) MANE Select NP_001254479.2:p.Glu30478Asp
NM_003319.4:c.64239A>T (TTN) NP_003310.4:p.Glu21413Asp
NM_133378.4:c.83730A>T (TTN) NP_596869.4:p.Glu27910Asp
NM_133432.3:c.64614A>T (TTN) NP_597676.3:p.Glu21538Asp
NM_133437.4:c.64815A>T (TTN) NP_597681.4:p.Glu21605Asp
NR_038271.1:n.447-20203T>A (TTN-AS1)
NR_038272.1:n.2043+8736T>A (TTN-AS1)
XM_011511729.1:c.90531A>T (TTN) XP_011510031.1:p.Glu30177Asp
XM_011511730.1:c.64425A>T (TTN) XP_011510032.1:p.Glu21475Asp
XM_011511731.1:c.64284A>T (TTN) XP_011510033.1:p.Glu21428Asp
XM_017004819.1:c.90327A>T (TTN) XP_016860308.1:p.Glu30109Asp
XM_017004820.1:c.85725A>T (TTN) XP_016860309.1:p.Glu28575Asp
XM_017004821.1:c.85722A>T (TTN) XP_016860310.1:p.Glu28574Asp
XM_017004822.1:c.82764A>T (TTN) XP_016860311.1:p.Glu27588Asp
XM_017004823.1:c.64380A>T (TTN) XP_016860312.1:p.Glu21460Asp
XM_024453094.1:c.85875A>T (TTN) XP_024308862.1:p.Glu28625Asp
XM_024453095.1:c.85872A>T (TTN) XP_024308863.1:p.Glu28624Asp
XM_024453096.1:c.85305A>T (TTN) XP_024308864.1:p.Glu28435Asp
XM_024453097.1:c.82647A>T (TTN) XP_024308865.1:p.Glu27549Asp
XM_024453098.1:c.82566A>T (TTN) XP_024308866.1:p.Glu27522Asp
XM_024453099.1:c.64329A>T (TTN) XP_024308867.1:p.Glu21443Asp
XM_024453100.1:c.54183A>T (TTN) XP_024308868.1:p.Glu18061Asp