Canonical Allele Identifier: CA349666359
Community Standard Title: NM_001267550.2(TTN):c.69811G>T (p.Glu23271Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178576321C>A , CM000664.2:g.178576321C>A GRCh38
NC_000002.11:g.179441048C>A , CM000664.1:g.179441048C>A GRCh37
NC_000002.10:g.179149294C>A NCBI36
NG_011618.3:g.259482G>T , LRG_391:g.259482G>T
NG_051363.1:g.58495C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.69811G>T (TTN) MANE Select NP_001254479.2:p.Glu23271Ter
ENST00000589042.5:c.69811G>T (TTN) MANE Select ENSP00000467141.1:p.Glu23271Ter
NM_001256850.1:c.64888G>T (TTN) NP_001243779.1:p.Glu21630Ter
NM_003319.4:c.42616G>T (TTN) NP_003310.4:p.Glu14206Ter
NM_133378.4:c.62107G>T (TTN) NP_596869.4:p.Glu20703Ter
NM_133432.3:c.42991G>T (TTN) NP_597676.3:p.Glu14331Ter
NM_133437.4:c.43192G>T (TTN) NP_597681.4:p.Glu14398Ter
NR_038271.1:n.596+4872C>A (TTN-AS1)
NR_038272.1:n.2044-6251C>A (TTN-AS1)
ENST00000342175.10:c.43192G>T (TTN) ENSP00000340554.6:p.Glu14398Ter
ENST00000342175.11:c.43192G>T (TTN) ENSP00000340554.6:p.Glu14398Ter
ENST00000342992.10:c.62107G>T (TTN) ENSP00000343764.6:p.Glu20703Ter
ENST00000342992.11:c.62107G>T (TTN) ENSP00000343764.6:p.Glu20703Ter
ENST00000359218.10:c.42991G>T (TTN) ENSP00000352154.5:p.Glu14331Ter
ENST00000359218.9:c.42991G>T (TTN) ENSP00000352154.5:p.Glu14331Ter
ENST00000460472.6:c.42616G>T (TTN) ENSP00000434586.1:p.Glu14206Ter
ENST00000591111.5:c.64888G>T (TTN) ENSP00000465570.1:p.Glu21630Ter
ENST00000615779.4:c.64888G>T (TTN) ENSP00000483597.1:p.Glu21630Ter
XM_011511729.1:c.68908G>T (TTN) XP_011510031.1:p.Glu22970Ter
XM_011511730.1:c.42802G>T (TTN) XP_011510032.1:p.Glu14268Ter
XM_011511731.1:c.42661G>T (TTN) XP_011510033.1:p.Glu14221Ter
XM_017004819.1:c.68704G>T (TTN) XP_016860308.1:p.Glu22902Ter
XM_017004820.1:c.64102G>T (TTN) XP_016860309.1:p.Glu21368Ter
XM_017004821.1:c.64099G>T (TTN) XP_016860310.1:p.Glu21367Ter
XM_017004822.1:c.61141G>T (TTN) XP_016860311.1:p.Glu20381Ter
XM_017004823.1:c.42757G>T (TTN) XP_016860312.1:p.Glu14253Ter
XM_024453094.1:c.64252G>T (TTN) XP_024308862.1:p.Glu21418Ter
XM_024453095.1:c.64249G>T (TTN) XP_024308863.1:p.Glu21417Ter
XM_024453096.1:c.63682G>T (TTN) XP_024308864.1:p.Glu21228Ter
XM_024453097.1:c.61024G>T (TTN) XP_024308865.1:p.Glu20342Ter
XM_024453098.1:c.60943G>T (TTN) XP_024308866.1:p.Glu20315Ter
XM_024453099.1:c.42706G>T (TTN) XP_024308867.1:p.Glu14236Ter
XM_024453100.1:c.32560G>T (TTN) XP_024308868.1:p.Glu10854Ter