Canonical Allele Identifier: CA349642203
Community Standard Title: NM_001267550.2(TTN):c.73426G>T (p.Glu24476Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178572706C>A , CM000664.2:g.178572706C>A GRCh38
NC_000002.11:g.179437433C>A , CM000664.1:g.179437433C>A GRCh37
NC_000002.10:g.179145679C>A NCBI36
NG_011618.3:g.263097G>T , LRG_391:g.263097G>T
NG_051363.1:g.54880C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.73426G>T (TTN) MANE Select NP_001254479.2:p.Glu24476Ter
ENST00000589042.5:c.73426G>T (TTN) MANE Select ENSP00000467141.1:p.Glu24476Ter
NM_001256850.1:c.68503G>T (TTN) NP_001243779.1:p.Glu22835Ter
NM_003319.4:c.46231G>T (TTN) NP_003310.4:p.Glu15411Ter
NM_133378.4:c.65722G>T (TTN) NP_596869.4:p.Glu21908Ter
NM_133432.3:c.46606G>T (TTN) NP_597676.3:p.Glu15536Ter
NM_133437.4:c.46807G>T (TTN) NP_597681.4:p.Glu15603Ter
NR_038271.1:n.596+1257C>A (TTN-AS1)
NR_038272.1:n.2044-9866C>A (TTN-AS1)
ENST00000342175.10:c.46807G>T (TTN) ENSP00000340554.6:p.Glu15603Ter
ENST00000342175.11:c.46807G>T (TTN) ENSP00000340554.6:p.Glu15603Ter
ENST00000342992.10:c.65722G>T (TTN) ENSP00000343764.6:p.Glu21908Ter
ENST00000342992.11:c.65722G>T (TTN) ENSP00000343764.6:p.Glu21908Ter
ENST00000359218.10:c.46606G>T (TTN) ENSP00000352154.5:p.Glu15536Ter
ENST00000359218.9:c.46606G>T (TTN) ENSP00000352154.5:p.Glu15536Ter
ENST00000460472.6:c.46231G>T (TTN) ENSP00000434586.1:p.Glu15411Ter
ENST00000591111.5:c.68503G>T (TTN) ENSP00000465570.1:p.Glu22835Ter
ENST00000615779.4:c.68503G>T (TTN) ENSP00000483597.1:p.Glu22835Ter
XM_011511729.1:c.72523G>T (TTN) XP_011510031.1:p.Glu24175Ter
XM_011511730.1:c.46417G>T (TTN) XP_011510032.1:p.Glu15473Ter
XM_011511731.1:c.46276G>T (TTN) XP_011510033.1:p.Glu15426Ter
XM_017004819.1:c.72319G>T (TTN) XP_016860308.1:p.Glu24107Ter
XM_017004820.1:c.67717G>T (TTN) XP_016860309.1:p.Glu22573Ter
XM_017004821.1:c.67714G>T (TTN) XP_016860310.1:p.Glu22572Ter
XM_017004822.1:c.64756G>T (TTN) XP_016860311.1:p.Glu21586Ter
XM_017004823.1:c.46372G>T (TTN) XP_016860312.1:p.Glu15458Ter
XM_024453094.1:c.67867G>T (TTN) XP_024308862.1:p.Glu22623Ter
XM_024453095.1:c.67864G>T (TTN) XP_024308863.1:p.Glu22622Ter
XM_024453096.1:c.67297G>T (TTN) XP_024308864.1:p.Glu22433Ter
XM_024453097.1:c.64639G>T (TTN) XP_024308865.1:p.Glu21547Ter
XM_024453098.1:c.64558G>T (TTN) XP_024308866.1:p.Glu21520Ter
XM_024453099.1:c.46321G>T (TTN) XP_024308867.1:p.Glu15441Ter
XM_024453100.1:c.36175G>T (TTN) XP_024308868.1:p.Glu12059Ter