Canonical Allele Identifier: CA1310548007
Community Standard Title: NM_001267550.2(TTN):c.51037G= (p.Glu17013=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178611092C= , CM000664.2:g.178611092C= GRCh38
NC_000002.11:g.179475819C= , CM000664.1:g.179475819C= GRCh37
NC_000002.10:g.179184064C= NCBI36
NG_011618.3:g.224711G= , LRG_391:g.224711G=
NG_051363.1:g.93266C=

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.51037G= (TTN) MANE Select NP_001254479.2:p.Glu17013=
ENST00000589042.5:c.51037G= (TTN) MANE Select ENSP00000467141.1:p.Glu17013=
NM_001256850.1:c.46114G= (TTN) NP_001243779.1:p.Glu15372=
NM_003319.4:c.23842G= (TTN) NP_003310.4:p.Glu7948=
NM_133378.4:c.43333G= (TTN) NP_596869.4:p.Glu14445=
NM_133432.3:c.24217G= (TTN) NP_597676.3:p.Glu8073=
NM_133437.4:c.24418G= (TTN) NP_597681.4:p.Glu8140=
NR_038271.1:n.782+2826C= (TTN-AS1)
ENST00000342175.10:c.24418G= (TTN) ENSP00000340554.6:p.Glu8140=
ENST00000342175.11:c.24418G= (TTN) ENSP00000340554.6:p.Glu8140=
ENST00000342992.10:c.43333G= (TTN) ENSP00000343764.6:p.Glu14445=
ENST00000342992.11:c.43333G= (TTN) ENSP00000343764.6:p.Glu14445=
ENST00000359218.10:c.24217G= (TTN) ENSP00000352154.5:p.Glu8073=
ENST00000359218.9:c.24217G= (TTN) ENSP00000352154.5:p.Glu8073=
ENST00000460472.6:c.23842G= (TTN) ENSP00000434586.1:p.Glu7948=
ENST00000591111.5:c.46114G= (TTN) ENSP00000465570.1:p.Glu15372=
ENST00000615779.4:c.46114G= (TTN) ENSP00000483597.1:p.Glu15372=
XM_011511729.1:c.50134G= (TTN) XP_011510031.1:p.Glu16712=
XM_011511730.1:c.24028G= (TTN) XP_011510032.1:p.Glu8010=
XM_011511731.1:c.23887G= (TTN) XP_011510033.1:p.Glu7963=
XM_017004819.1:c.49930G= (TTN) XP_016860308.1:p.Glu16644=
XM_017004820.1:c.45328G= (TTN) XP_016860309.1:p.Glu15110=
XM_017004821.1:c.45325G= (TTN) XP_016860310.1:p.Glu15109=
XM_017004822.1:c.42367G= (TTN) XP_016860311.1:p.Glu14123=
XM_017004823.1:c.23983G= (TTN) XP_016860312.1:p.Glu7995=
XM_024453094.1:c.45478G= (TTN) XP_024308862.1:p.Glu15160=
XM_024453095.1:c.45475G= (TTN) XP_024308863.1:p.Glu15159=
XM_024453096.1:c.44908G= (TTN) XP_024308864.1:p.Glu14970=
XM_024453097.1:c.42250G= (TTN) XP_024308865.1:p.Glu14084=
XM_024453098.1:c.42169G= (TTN) XP_024308866.1:p.Glu14057=
XM_024453099.1:c.23932G= (TTN) XP_024308867.1:p.Glu7978=
XM_024453100.1:c.13786G= (TTN) XP_024308868.1:p.Glu4596=