Canonical Allele Identifier: CA349647314
Community Standard Title: NM_001267550.2(TTN):c.72410C>A (p.Ser24137Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573722G>T , CM000664.2:g.178573722G>T GRCh38
NC_000002.11:g.179438449G>T , CM000664.1:g.179438449G>T GRCh37
NC_000002.10:g.179146695G>T NCBI36
NG_011618.3:g.262081C>A , LRG_391:g.262081C>A
NG_051363.1:g.55896G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.72410C>A (TTN) MANE Select NP_001254479.2:p.Ser24137Ter
ENST00000589042.5:c.72410C>A (TTN) MANE Select ENSP00000467141.1:p.Ser24137Ter
NM_001256850.1:c.67487C>A (TTN) NP_001243779.1:p.Ser22496Ter
NM_003319.4:c.45215C>A (TTN) NP_003310.4:p.Ser15072Ter
NM_133378.4:c.64706C>A (TTN) NP_596869.4:p.Ser21569Ter
NM_133432.3:c.45590C>A (TTN) NP_597676.3:p.Ser15197Ter
NM_133437.4:c.45791C>A (TTN) NP_597681.4:p.Ser15264Ter
NR_038271.1:n.596+2273G>T (TTN-AS1)
NR_038272.1:n.2044-8850G>T (TTN-AS1)
ENST00000342175.10:c.45791C>A (TTN) ENSP00000340554.6:p.Ser15264Ter
ENST00000342175.11:c.45791C>A (TTN) ENSP00000340554.6:p.Ser15264Ter
ENST00000342992.10:c.64706C>A (TTN) ENSP00000343764.6:p.Ser21569Ter
ENST00000342992.11:c.64706C>A (TTN) ENSP00000343764.6:p.Ser21569Ter
ENST00000359218.10:c.45590C>A (TTN) ENSP00000352154.5:p.Ser15197Ter
ENST00000359218.9:c.45590C>A (TTN) ENSP00000352154.5:p.Ser15197Ter
ENST00000460472.6:c.45215C>A (TTN) ENSP00000434586.1:p.Ser15072Ter
ENST00000591111.5:c.67487C>A (TTN) ENSP00000465570.1:p.Ser22496Ter
ENST00000615779.4:c.67487C>A (TTN) ENSP00000483597.1:p.Ser22496Ter
XM_011511729.1:c.71507C>A (TTN) XP_011510031.1:p.Ser23836Ter
XM_011511730.1:c.45401C>A (TTN) XP_011510032.1:p.Ser15134Ter
XM_011511731.1:c.45260C>A (TTN) XP_011510033.1:p.Ser15087Ter
XM_017004819.1:c.71303C>A (TTN) XP_016860308.1:p.Ser23768Ter
XM_017004820.1:c.66701C>A (TTN) XP_016860309.1:p.Ser22234Ter
XM_017004821.1:c.66698C>A (TTN) XP_016860310.1:p.Ser22233Ter
XM_017004822.1:c.63740C>A (TTN) XP_016860311.1:p.Ser21247Ter
XM_017004823.1:c.45356C>A (TTN) XP_016860312.1:p.Ser15119Ter
XM_024453094.1:c.66851C>A (TTN) XP_024308862.1:p.Ser22284Ter
XM_024453095.1:c.66848C>A (TTN) XP_024308863.1:p.Ser22283Ter
XM_024453096.1:c.66281C>A (TTN) XP_024308864.1:p.Ser22094Ter
XM_024453097.1:c.63623C>A (TTN) XP_024308865.1:p.Ser21208Ter
XM_024453098.1:c.63542C>A (TTN) XP_024308866.1:p.Ser21181Ter
XM_024453099.1:c.45305C>A (TTN) XP_024308867.1:p.Ser15102Ter
XM_024453100.1:c.35159C>A (TTN) XP_024308868.1:p.Ser11720Ter