Canonical Allele Identifier: CA1985062
Community Standard Title: NM_001267550.2(TTN):c.106662G>A (p.Glu35554=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178529089C>T , CM000664.2:g.178529089C>T GRCh38
NC_000002.11:g.179393816C>T , CM000664.1:g.179393816C>T GRCh37
NC_000002.10:g.179102062C>T NCBI36
NG_011618.3:g.306714G>A , LRG_391:g.306714G>A
NG_051363.1:g.11263C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.106662G>A (TTN) MANE Select NP_001254479.2:p.Glu35554=
ENST00000589042.5:c.106662G>A (TTN) MANE Select ENSP00000467141.1:p.Glu35554=
NM_001256850.1:c.101739G>A (TTN) NP_001243779.1:p.Glu33913=
NM_003319.4:c.79467G>A (TTN) NP_003310.4:p.Glu26489=
NM_133378.4:c.98958G>A (TTN) NP_596869.4:p.Glu32986=
NM_133432.3:c.79842G>A (TTN) NP_597676.3:p.Glu26614=
NM_133437.4:c.80043G>A (TTN) NP_597681.4:p.Glu26681=
NR_038271.1:n.446+5453C>T (TTN-AS1)
NR_038272.1:n.219+5453C>T (TTN-AS1)
ENST00000342175.10:c.80043G>A (TTN) ENSP00000340554.6:p.Glu26681=
ENST00000342175.11:c.80043G>A (TTN) ENSP00000340554.6:p.Glu26681=
ENST00000342992.10:c.98958G>A (TTN) ENSP00000343764.6:p.Glu32986=
ENST00000342992.11:c.98958G>A (TTN) ENSP00000343764.6:p.Glu32986=
ENST00000359218.10:c.79842G>A (TTN) ENSP00000352154.5:p.Glu26614=
ENST00000359218.9:c.79842G>A (TTN) ENSP00000352154.5:p.Glu26614=
ENST00000460472.6:c.79467G>A (TTN) ENSP00000434586.1:p.Glu26489=
ENST00000591111.5:c.101739G>A (TTN) ENSP00000465570.1:p.Glu33913=
ENST00000615779.4:c.101739G>A (TTN) ENSP00000483597.1:p.Glu33913=
XM_011511729.1:c.105759G>A (TTN) XP_011510031.1:p.Glu35253=
XM_011511730.1:c.79653G>A (TTN) XP_011510032.1:p.Glu26551=
XM_011511731.1:c.79512G>A (TTN) XP_011510033.1:p.Glu26504=
XM_017004819.1:c.105555G>A (TTN) XP_016860308.1:p.Glu35185=
XM_017004820.1:c.100953G>A (TTN) XP_016860309.1:p.Glu33651=
XM_017004821.1:c.100950G>A (TTN) XP_016860310.1:p.Glu33650=
XM_017004822.1:c.97992G>A (TTN) XP_016860311.1:p.Glu32664=
XM_017004823.1:c.79608G>A (TTN) XP_016860312.1:p.Glu26536=
XM_024453094.1:c.101103G>A (TTN) XP_024308862.1:p.Glu33701=
XM_024453095.1:c.101100G>A (TTN) XP_024308863.1:p.Glu33700=
XM_024453096.1:c.100533G>A (TTN) XP_024308864.1:p.Glu33511=
XM_024453097.1:c.97875G>A (TTN) XP_024308865.1:p.Glu32625=
XM_024453098.1:c.97794G>A (TTN) XP_024308866.1:p.Glu32598=
XM_024453099.1:c.79557G>A (TTN) XP_024308867.1:p.Glu26519=
XM_024453100.1:c.69411G>A (TTN) XP_024308868.1:p.Glu23137=