Canonical Allele Identifier: CA349443083
Community Standard Title: NM_001267550.2(TTN):c.64183G>C (p.Gly21395Arg)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178586718C>G , CM000664.2:g.178586718C>G GRCh38
NC_000002.11:g.179451445C>G , CM000664.1:g.179451445C>G GRCh37
NC_000002.10:g.179159691C>G NCBI36
NG_011618.3:g.249085G>C , LRG_391:g.249085G>C
NG_051363.1:g.68892C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.64183G>C (TTN) MANE Select NP_001254479.2:p.Gly21395Arg
ENST00000589042.5:c.64183G>C (TTN) MANE Select ENSP00000467141.1:p.Gly21395Arg
NM_001256850.1:c.59260G>C (TTN) NP_001243779.1:p.Gly19754Arg
NM_003319.4:c.36988G>C (TTN) NP_003310.4:p.Gly12330Arg
NM_133378.4:c.56479G>C (TTN) NP_596869.4:p.Gly18827Arg
NM_133432.3:c.37363G>C (TTN) NP_597676.3:p.Gly12455Arg
NM_133437.4:c.37564G>C (TTN) NP_597681.4:p.Gly12522Arg
NR_038271.1:n.597-10878C>G (TTN-AS1)
NR_038272.1:n.3188+1725C>G (TTN-AS1)
ENST00000342175.10:c.37564G>C (TTN) ENSP00000340554.6:p.Gly12522Arg
ENST00000342175.11:c.37564G>C (TTN) ENSP00000340554.6:p.Gly12522Arg
ENST00000342992.10:c.56479G>C (TTN) ENSP00000343764.6:p.Gly18827Arg
ENST00000342992.11:c.56479G>C (TTN) ENSP00000343764.6:p.Gly18827Arg
ENST00000359218.10:c.37363G>C (TTN) ENSP00000352154.5:p.Gly12455Arg
ENST00000359218.9:c.37363G>C (TTN) ENSP00000352154.5:p.Gly12455Arg
ENST00000460472.6:c.36988G>C (TTN) ENSP00000434586.1:p.Gly12330Arg
ENST00000591111.5:c.59260G>C (TTN) ENSP00000465570.1:p.Gly19754Arg
ENST00000615779.4:c.59260G>C (TTN) ENSP00000483597.1:p.Gly19754Arg
XM_011511729.1:c.63280G>C (TTN) XP_011510031.1:p.Gly21094Arg
XM_011511730.1:c.37174G>C (TTN) XP_011510032.1:p.Gly12392Arg
XM_011511731.1:c.37033G>C (TTN) XP_011510033.1:p.Gly12345Arg
XM_017004819.1:c.63076G>C (TTN) XP_016860308.1:p.Gly21026Arg
XM_017004820.1:c.58474G>C (TTN) XP_016860309.1:p.Gly19492Arg
XM_017004821.1:c.58471G>C (TTN) XP_016860310.1:p.Gly19491Arg
XM_017004822.1:c.55513G>C (TTN) XP_016860311.1:p.Gly18505Arg
XM_017004823.1:c.37129G>C (TTN) XP_016860312.1:p.Gly12377Arg
XM_024453094.1:c.58624G>C (TTN) XP_024308862.1:p.Gly19542Arg
XM_024453095.1:c.58621G>C (TTN) XP_024308863.1:p.Gly19541Arg
XM_024453096.1:c.58054G>C (TTN) XP_024308864.1:p.Gly19352Arg
XM_024453097.1:c.55396G>C (TTN) XP_024308865.1:p.Gly18466Arg
XM_024453098.1:c.55315G>C (TTN) XP_024308866.1:p.Gly18439Arg
XM_024453099.1:c.37078G>C (TTN) XP_024308867.1:p.Gly12360Arg
XM_024453100.1:c.26932G>C (TTN) XP_024308868.1:p.Gly8978Arg