Canonical Allele Identifier: CA430243763
Community Standard Title: NM_001267550.2(TTN):c.92232A>G (p.Glu30744=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549394T>C , CM000664.2:g.178549394T>C GRCh38
NC_000002.11:g.179414121T>C , CM000664.1:g.179414121T>C GRCh37
NC_000002.10:g.179122367T>C NCBI36
NG_011618.3:g.286409A>G , LRG_391:g.286409A>G
NG_051363.1:g.31568T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.92232A>G (TTN) MANE Select NP_001254479.2:p.Glu30744=
ENST00000589042.5:c.92232A>G (TTN) MANE Select ENSP00000467141.1:p.Glu30744=
NM_001256850.1:c.87309A>G (TTN) NP_001243779.1:p.Glu29103=
NM_003319.4:c.65037A>G (TTN) NP_003310.4:p.Glu21679=
NM_133378.4:c.84528A>G (TTN) NP_596869.4:p.Glu28176=
NM_133432.3:c.65412A>G (TTN) NP_597676.3:p.Glu21804=
NM_133437.4:c.65613A>G (TTN) NP_597681.4:p.Glu21871=
NR_038271.1:n.447-21906T>C (TTN-AS1)
NR_038272.1:n.2043+7033T>C (TTN-AS1)
ENST00000342175.10:c.65613A>G (TTN) ENSP00000340554.6:p.Glu21871=
ENST00000342175.11:c.65613A>G (TTN) ENSP00000340554.6:p.Glu21871=
ENST00000342992.10:c.84528A>G (TTN) ENSP00000343764.6:p.Glu28176=
ENST00000342992.11:c.84528A>G (TTN) ENSP00000343764.6:p.Glu28176=
ENST00000359218.10:c.65412A>G (TTN) ENSP00000352154.5:p.Glu21804=
ENST00000359218.9:c.65412A>G (TTN) ENSP00000352154.5:p.Glu21804=
ENST00000460472.6:c.65037A>G (TTN) ENSP00000434586.1:p.Glu21679=
ENST00000591111.5:c.87309A>G (TTN) ENSP00000465570.1:p.Glu29103=
ENST00000615779.4:c.87309A>G (TTN) ENSP00000483597.1:p.Glu29103=
XM_011511729.1:c.91329A>G (TTN) XP_011510031.1:p.Glu30443=
XM_011511730.1:c.65223A>G (TTN) XP_011510032.1:p.Glu21741=
XM_011511731.1:c.65082A>G (TTN) XP_011510033.1:p.Glu21694=
XM_017004819.1:c.91125A>G (TTN) XP_016860308.1:p.Glu30375=
XM_017004820.1:c.86523A>G (TTN) XP_016860309.1:p.Glu28841=
XM_017004821.1:c.86520A>G (TTN) XP_016860310.1:p.Glu28840=
XM_017004822.1:c.83562A>G (TTN) XP_016860311.1:p.Glu27854=
XM_017004823.1:c.65178A>G (TTN) XP_016860312.1:p.Glu21726=
XM_024453094.1:c.86673A>G (TTN) XP_024308862.1:p.Glu28891=
XM_024453095.1:c.86670A>G (TTN) XP_024308863.1:p.Glu28890=
XM_024453096.1:c.86103A>G (TTN) XP_024308864.1:p.Glu28701=
XM_024453097.1:c.83445A>G (TTN) XP_024308865.1:p.Glu27815=
XM_024453098.1:c.83364A>G (TTN) XP_024308866.1:p.Glu27788=
XM_024453099.1:c.65127A>G (TTN) XP_024308867.1:p.Glu21709=
XM_024453100.1:c.54981A>G (TTN) XP_024308868.1:p.Glu18327=