Canonical Allele Identifier: CA430245692
Community Standard Title: NM_001267550.2(TTN):c.89844C>T (p.Gly29948=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178553056G>A , CM000664.2:g.178553056G>A GRCh38
NC_000002.11:g.179417783G>A , CM000664.1:g.179417783G>A GRCh37
NC_000002.10:g.179126029G>A NCBI36
NG_011618.3:g.282747C>T , LRG_391:g.282747C>T
NG_051363.1:g.35230G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.89844C>T (TTN) MANE Select NP_001254479.2:p.Gly29948=
ENST00000589042.5:c.89844C>T (TTN) MANE Select ENSP00000467141.1:p.Gly29948=
NM_001256850.1:c.84921C>T (TTN) NP_001243779.1:p.Gly28307=
NM_003319.4:c.62649C>T (TTN) NP_003310.4:p.Gly20883=
NM_133378.4:c.82140C>T (TTN) NP_596869.4:p.Gly27380=
NM_133432.3:c.63024C>T (TTN) NP_597676.3:p.Gly21008=
NM_133437.4:c.63225C>T (TTN) NP_597681.4:p.Gly21075=
NR_038271.1:n.447-18244G>A (TTN-AS1)
NR_038272.1:n.2043+10695G>A (TTN-AS1)
ENST00000342175.10:c.63225C>T (TTN) ENSP00000340554.6:p.Gly21075=
ENST00000342175.11:c.63225C>T (TTN) ENSP00000340554.6:p.Gly21075=
ENST00000342992.10:c.82140C>T (TTN) ENSP00000343764.6:p.Gly27380=
ENST00000342992.11:c.82140C>T (TTN) ENSP00000343764.6:p.Gly27380=
ENST00000359218.10:c.63024C>T (TTN) ENSP00000352154.5:p.Gly21008=
ENST00000359218.9:c.63024C>T (TTN) ENSP00000352154.5:p.Gly21008=
ENST00000460472.6:c.62649C>T (TTN) ENSP00000434586.1:p.Gly20883=
ENST00000591111.5:c.84921C>T (TTN) ENSP00000465570.1:p.Gly28307=
ENST00000615779.4:c.84921C>T (TTN) ENSP00000483597.1:p.Gly28307=
XM_011511729.1:c.88941C>T (TTN) XP_011510031.1:p.Gly29647=
XM_011511730.1:c.62835C>T (TTN) XP_011510032.1:p.Gly20945=
XM_011511731.1:c.62694C>T (TTN) XP_011510033.1:p.Gly20898=
XM_017004819.1:c.88737C>T (TTN) XP_016860308.1:p.Gly29579=
XM_017004820.1:c.84135C>T (TTN) XP_016860309.1:p.Gly28045=
XM_017004821.1:c.84132C>T (TTN) XP_016860310.1:p.Gly28044=
XM_017004822.1:c.81174C>T (TTN) XP_016860311.1:p.Gly27058=
XM_017004823.1:c.62790C>T (TTN) XP_016860312.1:p.Gly20930=
XM_024453094.1:c.84285C>T (TTN) XP_024308862.1:p.Gly28095=
XM_024453095.1:c.84282C>T (TTN) XP_024308863.1:p.Gly28094=
XM_024453096.1:c.83715C>T (TTN) XP_024308864.1:p.Gly27905=
XM_024453097.1:c.81057C>T (TTN) XP_024308865.1:p.Gly27019=
XM_024453098.1:c.80976C>T (TTN) XP_024308866.1:p.Gly26992=
XM_024453099.1:c.62739C>T (TTN) XP_024308867.1:p.Gly20913=
XM_024453100.1:c.52593C>T (TTN) XP_024308868.1:p.Gly17531=