Canonical Allele Identifier: CA1310549499

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614752C= , CM000664.2:g.178614752C= GRCh38
NC_000002.11:g.179479479C= , CM000664.1:g.179479479C= GRCh37
NC_000002.10:g.179187724C= NCBI36
NG_011618.3:g.221051G= , LRG_391:g.221051G=
NG_051363.1:g.96926C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41058G= (TTN) ENSP00000343764.6:p.Glu13686=
ENST00000342175.11:c.22143G= (TTN) ENSP00000340554.6:p.Glu7381=
ENST00000359218.10:c.21942G= (TTN) ENSP00000352154.5:p.Glu7314=
ENST00000342175.10:c.22143G= (TTN) ENSP00000340554.6:p.Glu7381=
ENST00000342992.10:c.41058G= (TTN) ENSP00000343764.6:p.Glu13686=
ENST00000359218.9:c.21942G= (TTN) ENSP00000352154.5:p.Glu7314=
ENST00000460472.6:c.21567G= (TTN) ENSP00000434586.1:p.Glu7189=
ENST00000589042.5:c.48762G= (TTN) MANE Select ENSP00000467141.1:p.Glu16254=
ENST00000591111.5:c.43839G= (TTN) ENSP00000465570.1:p.Glu14613=
ENST00000615779.4:c.43839G= (TTN) ENSP00000483597.1:p.Glu14613=
NM_001256850.1:c.43839G= (TTN) NP_001243779.1:p.Glu14613=
NM_001267550.2:c.48762G= (TTN) MANE Select NP_001254479.2:p.Glu16254=
NM_003319.4:c.21567G= (TTN) NP_003310.4:p.Glu7189=
NM_133378.4:c.41058G= (TTN) NP_596869.4:p.Glu13686=
NM_133432.3:c.21942G= (TTN) NP_597676.3:p.Glu7314=
NM_133437.4:c.22143G= (TTN) NP_597681.4:p.Glu7381=
NR_038271.1:n.1500C= (TTN-AS1)
XM_011511729.1:c.47859G= (TTN) XP_011510031.1:p.Glu15953=
XM_011511730.1:c.21753G= (TTN) XP_011510032.1:p.Glu7251=
XM_011511731.1:c.21612G= (TTN) XP_011510033.1:p.Glu7204=
XM_017004819.1:c.47655G= (TTN) XP_016860308.1:p.Glu15885=
XM_017004820.1:c.43053G= (TTN) XP_016860309.1:p.Glu14351=
XM_017004821.1:c.43050G= (TTN) XP_016860310.1:p.Glu14350=
XM_017004822.1:c.40092G= (TTN) XP_016860311.1:p.Glu13364=
XM_017004823.1:c.21708G= (TTN) XP_016860312.1:p.Glu7236=
XM_024453094.1:c.43203G= (TTN) XP_024308862.1:p.Glu14401=
XM_024453095.1:c.43200G= (TTN) XP_024308863.1:p.Glu14400=
XM_024453096.1:c.42633G= (TTN) XP_024308864.1:p.Glu14211=
XM_024453097.1:c.39975G= (TTN) XP_024308865.1:p.Glu13325=
XM_024453098.1:c.39894G= (TTN) XP_024308866.1:p.Glu13298=
XM_024453099.1:c.21657G= (TTN) XP_024308867.1:p.Glu7219=
XM_024453100.1:c.11511G= (TTN) XP_024308868.1:p.Glu3837=