Canonical Allele Identifier: CA3094924228
Community Standard Title: NM_001267550.2(TTN):c.79301T= (p.Ile26434=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178566831A= , CM000664.2:g.178566831A= GRCh38
NC_000002.11:g.179431558A= , CM000664.1:g.179431558A= GRCh37
NC_000002.10:g.179139804A= NCBI36
NG_011618.3:g.268972T= , LRG_391:g.268972T=
NG_051363.1:g.49005A=

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.79301T= (TTN) MANE Select NP_001254479.2:p.Ile26434=
ENST00000589042.5:c.79301T= (TTN) MANE Select ENSP00000467141.1:p.Ile26434=
NM_001256850.1:c.74378T= (TTN) NP_001243779.1:p.Ile24793=
NM_003319.4:c.52106T= (TTN) NP_003310.4:p.Ile17369=
NM_133378.4:c.71597T= (TTN) NP_596869.4:p.Ile23866=
NM_133432.3:c.52481T= (TTN) NP_597676.3:p.Ile17494=
NM_133437.4:c.52682T= (TTN) NP_597681.4:p.Ile17561=
NR_038271.1:n.447-4469A= (TTN-AS1)
NR_038272.1:n.2044-15741A= (TTN-AS1)
ENST00000342175.10:c.52682T= (TTN) ENSP00000340554.6:p.Ile17561=
ENST00000342175.11:c.52682T= (TTN) ENSP00000340554.6:p.Ile17561=
ENST00000342992.10:c.71597T= (TTN) ENSP00000343764.6:p.Ile23866=
ENST00000342992.11:c.71597T= (TTN) ENSP00000343764.6:p.Ile23866=
ENST00000359218.10:c.52481T= (TTN) ENSP00000352154.5:p.Ile17494=
ENST00000359218.9:c.52481T= (TTN) ENSP00000352154.5:p.Ile17494=
ENST00000460472.6:c.52106T= (TTN) ENSP00000434586.1:p.Ile17369=
ENST00000591111.5:c.74378T= (TTN) ENSP00000465570.1:p.Ile24793=
ENST00000615779.4:c.74378T= (TTN) ENSP00000483597.1:p.Ile24793=
XM_011511729.1:c.78398T= (TTN) XP_011510031.1:p.Ile26133=
XM_011511730.1:c.52292T= (TTN) XP_011510032.1:p.Ile17431=
XM_011511731.1:c.52151T= (TTN) XP_011510033.1:p.Ile17384=
XM_017004819.1:c.78194T= (TTN) XP_016860308.1:p.Ile26065=
XM_017004820.1:c.73592T= (TTN) XP_016860309.1:p.Ile24531=
XM_017004821.1:c.73589T= (TTN) XP_016860310.1:p.Ile24530=
XM_017004822.1:c.70631T= (TTN) XP_016860311.1:p.Ile23544=
XM_017004823.1:c.52247T= (TTN) XP_016860312.1:p.Ile17416=
XM_024453094.1:c.73742T= (TTN) XP_024308862.1:p.Ile24581=
XM_024453095.1:c.73739T= (TTN) XP_024308863.1:p.Ile24580=
XM_024453096.1:c.73172T= (TTN) XP_024308864.1:p.Ile24391=
XM_024453097.1:c.70514T= (TTN) XP_024308865.1:p.Ile23505=
XM_024453098.1:c.70433T= (TTN) XP_024308866.1:p.Ile23478=
XM_024453099.1:c.52196T= (TTN) XP_024308867.1:p.Ile17399=
XM_024453100.1:c.42050T= (TTN) XP_024308868.1:p.Ile14017=