Canonical Allele Identifier: CA349573091
Community Standard Title: NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178563607G>A , CM000664.2:g.178563607G>A GRCh38
NC_000002.11:g.179428334G>A , CM000664.1:g.179428334G>A GRCh37
NC_000002.10:g.179136580G>A NCBI36
NG_011618.3:g.272196C>T , LRG_391:g.272196C>T
NG_051363.1:g.45781G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.82525C>T (TTN) MANE Select NP_001254479.2:p.Arg27509Ter
ENST00000589042.5:c.82525C>T (TTN) MANE Select ENSP00000467141.1:p.Arg27509Ter
NM_001256850.1:c.77602C>T (TTN) NP_001243779.1:p.Arg25868Ter
NM_003319.4:c.55330C>T (TTN) NP_003310.4:p.Arg18444Ter
NM_133378.4:c.74821C>T (TTN) NP_596869.4:p.Arg24941Ter
NM_133432.3:c.55705C>T (TTN) NP_597676.3:p.Arg18569Ter
NM_133437.4:c.55906C>T (TTN) NP_597681.4:p.Arg18636Ter
NR_038271.1:n.447-7693G>A (TTN-AS1)
NR_038272.1:n.2044-18965G>A (TTN-AS1)
ENST00000342175.10:c.55906C>T (TTN) ENSP00000340554.6:p.Arg18636Ter
ENST00000342175.11:c.55906C>T (TTN) ENSP00000340554.6:p.Arg18636Ter
ENST00000342992.10:c.74821C>T (TTN) ENSP00000343764.6:p.Arg24941Ter
ENST00000342992.11:c.74821C>T (TTN) ENSP00000343764.6:p.Arg24941Ter
ENST00000359218.10:c.55705C>T (TTN) ENSP00000352154.5:p.Arg18569Ter
ENST00000359218.9:c.55705C>T (TTN) ENSP00000352154.5:p.Arg18569Ter
ENST00000460472.6:c.55330C>T (TTN) ENSP00000434586.1:p.Arg18444Ter
ENST00000591111.5:c.77602C>T (TTN) ENSP00000465570.1:p.Arg25868Ter
ENST00000615779.4:c.77602C>T (TTN) ENSP00000483597.1:p.Arg25868Ter
XM_011511729.1:c.81622C>T (TTN) XP_011510031.1:p.Arg27208Ter
XM_011511730.1:c.55516C>T (TTN) XP_011510032.1:p.Arg18506Ter
XM_011511731.1:c.55375C>T (TTN) XP_011510033.1:p.Arg18459Ter
XM_017004819.1:c.81418C>T (TTN) XP_016860308.1:p.Arg27140Ter
XM_017004820.1:c.76816C>T (TTN) XP_016860309.1:p.Arg25606Ter
XM_017004821.1:c.76813C>T (TTN) XP_016860310.1:p.Arg25605Ter
XM_017004822.1:c.73855C>T (TTN) XP_016860311.1:p.Arg24619Ter
XM_017004823.1:c.55471C>T (TTN) XP_016860312.1:p.Arg18491Ter
XM_024453094.1:c.76966C>T (TTN) XP_024308862.1:p.Arg25656Ter
XM_024453095.1:c.76963C>T (TTN) XP_024308863.1:p.Arg25655Ter
XM_024453096.1:c.76396C>T (TTN) XP_024308864.1:p.Arg25466Ter
XM_024453097.1:c.73738C>T (TTN) XP_024308865.1:p.Arg24580Ter
XM_024453098.1:c.73657C>T (TTN) XP_024308866.1:p.Arg24553Ter
XM_024453099.1:c.55420C>T (TTN) XP_024308867.1:p.Arg18474Ter
XM_024453100.1:c.45274C>T (TTN) XP_024308868.1:p.Arg15092Ter