Canonical Allele Identifier: CA1991705
Community Standard Title: NM_001267550.2(TTN):c.65416C>T (p.Arg21806Trp)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178583766G>A , CM000664.2:g.178583766G>A GRCh38
NC_000002.11:g.179448493G>A , CM000664.1:g.179448493G>A GRCh37
NC_000002.10:g.179156739G>A NCBI36
NG_011618.3:g.252037C>T , LRG_391:g.252037C>T
NG_051363.1:g.65940G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.65416C>T (TTN) MANE Select NP_001254479.2:p.Arg21806Trp
ENST00000589042.5:c.65416C>T (TTN) MANE Select ENSP00000467141.1:p.Arg21806Trp
NM_001256850.1:c.60493C>T (TTN) NP_001243779.1:p.Arg20165Trp
NM_003319.4:c.38221C>T (TTN) NP_003310.4:p.Arg12741Trp
NM_133378.4:c.57712C>T (TTN) NP_596869.4:p.Arg19238Trp
NM_133432.3:c.38596C>T (TTN) NP_597676.3:p.Arg12866Trp
NM_133437.4:c.38797C>T (TTN) NP_597681.4:p.Arg12933Trp
NR_038271.1:n.596+12317G>A (TTN-AS1)
NR_038272.1:n.2612G>A (TTN-AS1)
ENST00000342175.10:c.38797C>T (TTN) ENSP00000340554.6:p.Arg12933Trp
ENST00000342175.11:c.38797C>T (TTN) ENSP00000340554.6:p.Arg12933Trp
ENST00000342992.10:c.57712C>T (TTN) ENSP00000343764.6:p.Arg19238Trp
ENST00000342992.11:c.57712C>T (TTN) ENSP00000343764.6:p.Arg19238Trp
ENST00000359218.10:c.38596C>T (TTN) ENSP00000352154.5:p.Arg12866Trp
ENST00000359218.9:c.38596C>T (TTN) ENSP00000352154.5:p.Arg12866Trp
ENST00000460472.6:c.38221C>T (TTN) ENSP00000434586.1:p.Arg12741Trp
ENST00000591111.5:c.60493C>T (TTN) ENSP00000465570.1:p.Arg20165Trp
ENST00000615779.4:c.60493C>T (TTN) ENSP00000483597.1:p.Arg20165Trp
XM_011511729.1:c.64513C>T (TTN) XP_011510031.1:p.Arg21505Trp
XM_011511730.1:c.38407C>T (TTN) XP_011510032.1:p.Arg12803Trp
XM_011511731.1:c.38266C>T (TTN) XP_011510033.1:p.Arg12756Trp
XM_017004819.1:c.64309C>T (TTN) XP_016860308.1:p.Arg21437Trp
XM_017004820.1:c.59707C>T (TTN) XP_016860309.1:p.Arg19903Trp
XM_017004821.1:c.59704C>T (TTN) XP_016860310.1:p.Arg19902Trp
XM_017004822.1:c.56746C>T (TTN) XP_016860311.1:p.Arg18916Trp
XM_017004823.1:c.38362C>T (TTN) XP_016860312.1:p.Arg12788Trp
XM_024453094.1:c.59857C>T (TTN) XP_024308862.1:p.Arg19953Trp
XM_024453095.1:c.59854C>T (TTN) XP_024308863.1:p.Arg19952Trp
XM_024453096.1:c.59287C>T (TTN) XP_024308864.1:p.Arg19763Trp
XM_024453097.1:c.56629C>T (TTN) XP_024308865.1:p.Arg18877Trp
XM_024453098.1:c.56548C>T (TTN) XP_024308866.1:p.Arg18850Trp
XM_024453099.1:c.38311C>T (TTN) XP_024308867.1:p.Arg12771Trp
XM_024453100.1:c.28165C>T (TTN) XP_024308868.1:p.Arg9389Trp