Canonical Allele Identifier: CA1310528670
Community Standard Title: NM_001267550.2(TTN):c.82240C= (p.Arg27414=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178563892G= , CM000664.2:g.178563892G= GRCh38
NC_000002.11:g.179428619G= , CM000664.1:g.179428619G= GRCh37
NC_000002.10:g.179136865G= NCBI36
NG_011618.3:g.271911C= , LRG_391:g.271911C=
NG_051363.1:g.46066G=

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.82240C= (TTN) MANE Select NP_001254479.2:p.Arg27414=
ENST00000589042.5:c.82240C= (TTN) MANE Select ENSP00000467141.1:p.Arg27414=
NM_001256850.1:c.77317C= (TTN) NP_001243779.1:p.Arg25773=
NM_003319.4:c.55045C= (TTN) NP_003310.4:p.Arg18349=
NM_133378.4:c.74536C= (TTN) NP_596869.4:p.Arg24846=
NM_133432.3:c.55420C= (TTN) NP_597676.3:p.Arg18474=
NM_133437.4:c.55621C= (TTN) NP_597681.4:p.Arg18541=
NR_038271.1:n.447-7408G= (TTN-AS1)
NR_038272.1:n.2044-18680G= (TTN-AS1)
ENST00000342175.10:c.55621C= (TTN) ENSP00000340554.6:p.Arg18541=
ENST00000342175.11:c.55621C= (TTN) ENSP00000340554.6:p.Arg18541=
ENST00000342992.10:c.74536C= (TTN) ENSP00000343764.6:p.Arg24846=
ENST00000342992.11:c.74536C= (TTN) ENSP00000343764.6:p.Arg24846=
ENST00000359218.10:c.55420C= (TTN) ENSP00000352154.5:p.Arg18474=
ENST00000359218.9:c.55420C= (TTN) ENSP00000352154.5:p.Arg18474=
ENST00000460472.6:c.55045C= (TTN) ENSP00000434586.1:p.Arg18349=
ENST00000591111.5:c.77317C= (TTN) ENSP00000465570.1:p.Arg25773=
ENST00000615779.4:c.77317C= (TTN) ENSP00000483597.1:p.Arg25773=
XM_011511729.1:c.81337C= (TTN) XP_011510031.1:p.Arg27113=
XM_011511730.1:c.55231C= (TTN) XP_011510032.1:p.Arg18411=
XM_011511731.1:c.55090C= (TTN) XP_011510033.1:p.Arg18364=
XM_017004819.1:c.81133C= (TTN) XP_016860308.1:p.Arg27045=
XM_017004820.1:c.76531C= (TTN) XP_016860309.1:p.Arg25511=
XM_017004821.1:c.76528C= (TTN) XP_016860310.1:p.Arg25510=
XM_017004822.1:c.73570C= (TTN) XP_016860311.1:p.Arg24524=
XM_017004823.1:c.55186C= (TTN) XP_016860312.1:p.Arg18396=
XM_024453094.1:c.76681C= (TTN) XP_024308862.1:p.Arg25561=
XM_024453095.1:c.76678C= (TTN) XP_024308863.1:p.Arg25560=
XM_024453096.1:c.76111C= (TTN) XP_024308864.1:p.Arg25371=
XM_024453097.1:c.73453C= (TTN) XP_024308865.1:p.Arg24485=
XM_024453098.1:c.73372C= (TTN) XP_024308866.1:p.Arg24458=
XM_024453099.1:c.55135C= (TTN) XP_024308867.1:p.Arg18379=
XM_024453100.1:c.44989C= (TTN) XP_024308868.1:p.Arg14997=