Canonical Allele Identifier: CA1310536021
Community Standard Title: NM_001267550.2(TTN):c.66283C= (p.Arg22095=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178582086G= , CM000664.2:g.178582086G= GRCh38
NC_000002.11:g.179446813G= , CM000664.1:g.179446813G= GRCh37
NC_000002.10:g.179155059G= NCBI36
NG_011618.3:g.253717C= , LRG_391:g.253717C=
NG_051363.1:g.64260G=

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.66283C= (TTN) MANE Select NP_001254479.2:p.Arg22095=
ENST00000589042.5:c.66283C= (TTN) MANE Select ENSP00000467141.1:p.Arg22095=
NM_001256850.1:c.61360C= (TTN) NP_001243779.1:p.Arg20454=
NM_003319.4:c.39088C= (TTN) NP_003310.4:p.Arg13030=
NM_133378.4:c.58579C= (TTN) NP_596869.4:p.Arg19527=
NM_133432.3:c.39463C= (TTN) NP_597676.3:p.Arg13155=
NM_133437.4:c.39664C= (TTN) NP_597681.4:p.Arg13222=
NR_038271.1:n.596+10637G= (TTN-AS1)
NR_038272.1:n.2044-486G= (TTN-AS1)
ENST00000342175.10:c.39664C= (TTN) ENSP00000340554.6:p.Arg13222=
ENST00000342175.11:c.39664C= (TTN) ENSP00000340554.6:p.Arg13222=
ENST00000342992.10:c.58579C= (TTN) ENSP00000343764.6:p.Arg19527=
ENST00000342992.11:c.58579C= (TTN) ENSP00000343764.6:p.Arg19527=
ENST00000359218.10:c.39463C= (TTN) ENSP00000352154.5:p.Arg13155=
ENST00000359218.9:c.39463C= (TTN) ENSP00000352154.5:p.Arg13155=
ENST00000460472.6:c.39088C= (TTN) ENSP00000434586.1:p.Arg13030=
ENST00000591111.5:c.61360C= (TTN) ENSP00000465570.1:p.Arg20454=
ENST00000615779.4:c.61360C= (TTN) ENSP00000483597.1:p.Arg20454=
XM_011511729.1:c.65380C= (TTN) XP_011510031.1:p.Arg21794=
XM_011511730.1:c.39274C= (TTN) XP_011510032.1:p.Arg13092=
XM_011511731.1:c.39133C= (TTN) XP_011510033.1:p.Arg13045=
XM_017004819.1:c.65176C= (TTN) XP_016860308.1:p.Arg21726=
XM_017004820.1:c.60574C= (TTN) XP_016860309.1:p.Arg20192=
XM_017004821.1:c.60571C= (TTN) XP_016860310.1:p.Arg20191=
XM_017004822.1:c.57613C= (TTN) XP_016860311.1:p.Arg19205=
XM_017004823.1:c.39229C= (TTN) XP_016860312.1:p.Arg13077=
XM_024453094.1:c.60724C= (TTN) XP_024308862.1:p.Arg20242=
XM_024453095.1:c.60721C= (TTN) XP_024308863.1:p.Arg20241=
XM_024453096.1:c.60154C= (TTN) XP_024308864.1:p.Arg20052=
XM_024453097.1:c.57496C= (TTN) XP_024308865.1:p.Arg19166=
XM_024453098.1:c.57415C= (TTN) XP_024308866.1:p.Arg19139=
XM_024453099.1:c.39178C= (TTN) XP_024308867.1:p.Arg13060=
XM_024453100.1:c.29032C= (TTN) XP_024308868.1:p.Arg9678=