Canonical Allele Identifier: CA1310537697
Community Standard Title: NM_001267550.2(TTN):c.64194C= (p.Ile21398=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178586707G= , CM000664.2:g.178586707G= GRCh38
NC_000002.11:g.179451434G= , CM000664.1:g.179451434G= GRCh37
NC_000002.10:g.179159680G= NCBI36
NG_011618.3:g.249096C= , LRG_391:g.249096C=
NG_051363.1:g.68881G=

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.64194C= (TTN) MANE Select NP_001254479.2:p.Ile21398=
ENST00000589042.5:c.64194C= (TTN) MANE Select ENSP00000467141.1:p.Ile21398=
NM_001256850.1:c.59271C= (TTN) NP_001243779.1:p.Ile19757=
NM_003319.4:c.36999C= (TTN) NP_003310.4:p.Ile12333=
NM_133378.4:c.56490C= (TTN) NP_596869.4:p.Ile18830=
NM_133432.3:c.37374C= (TTN) NP_597676.3:p.Ile12458=
NM_133437.4:c.37575C= (TTN) NP_597681.4:p.Ile12525=
NR_038271.1:n.597-10889G= (TTN-AS1)
NR_038272.1:n.3188+1714G= (TTN-AS1)
ENST00000342175.10:c.37575C= (TTN) ENSP00000340554.6:p.Ile12525=
ENST00000342175.11:c.37575C= (TTN) ENSP00000340554.6:p.Ile12525=
ENST00000342992.10:c.56490C= (TTN) ENSP00000343764.6:p.Ile18830=
ENST00000342992.11:c.56490C= (TTN) ENSP00000343764.6:p.Ile18830=
ENST00000359218.10:c.37374C= (TTN) ENSP00000352154.5:p.Ile12458=
ENST00000359218.9:c.37374C= (TTN) ENSP00000352154.5:p.Ile12458=
ENST00000460472.6:c.36999C= (TTN) ENSP00000434586.1:p.Ile12333=
ENST00000591111.5:c.59271C= (TTN) ENSP00000465570.1:p.Ile19757=
ENST00000615779.4:c.59271C= (TTN) ENSP00000483597.1:p.Ile19757=
XM_011511729.1:c.63291C= (TTN) XP_011510031.1:p.Ile21097=
XM_011511730.1:c.37185C= (TTN) XP_011510032.1:p.Ile12395=
XM_011511731.1:c.37044C= (TTN) XP_011510033.1:p.Ile12348=
XM_017004819.1:c.63087C= (TTN) XP_016860308.1:p.Ile21029=
XM_017004820.1:c.58485C= (TTN) XP_016860309.1:p.Ile19495=
XM_017004821.1:c.58482C= (TTN) XP_016860310.1:p.Ile19494=
XM_017004822.1:c.55524C= (TTN) XP_016860311.1:p.Ile18508=
XM_017004823.1:c.37140C= (TTN) XP_016860312.1:p.Ile12380=
XM_024453094.1:c.58635C= (TTN) XP_024308862.1:p.Ile19545=
XM_024453095.1:c.58632C= (TTN) XP_024308863.1:p.Ile19544=
XM_024453096.1:c.58065C= (TTN) XP_024308864.1:p.Ile19355=
XM_024453097.1:c.55407C= (TTN) XP_024308865.1:p.Ile18469=
XM_024453098.1:c.55326C= (TTN) XP_024308866.1:p.Ile18442=
XM_024453099.1:c.37089C= (TTN) XP_024308867.1:p.Ile12363=
XM_024453100.1:c.26943C= (TTN) XP_024308868.1:p.Ile8981=