Canonical Allele Identifier: CA60963511
Community Standard Title: NM_001267550.2(TTN):c.64111A>G (p.Arg21371Gly)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178586790T>C , CM000664.2:g.178586790T>C GRCh38
NC_000002.11:g.179451517T>C , CM000664.1:g.179451517T>C GRCh37
NC_000002.10:g.179159763T>C NCBI36
NG_011618.3:g.249013A>G , LRG_391:g.249013A>G
NG_051363.1:g.68964T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.64111A>G (TTN) MANE Select NP_001254479.2:p.Arg21371Gly
ENST00000589042.5:c.64111A>G (TTN) MANE Select ENSP00000467141.1:p.Arg21371Gly
NM_001256850.1:c.59188A>G (TTN) NP_001243779.1:p.Arg19730Gly
NM_003319.4:c.36916A>G (TTN) NP_003310.4:p.Arg12306Gly
NM_133378.4:c.56407A>G (TTN) NP_596869.4:p.Arg18803Gly
NM_133432.3:c.37291A>G (TTN) NP_597676.3:p.Arg12431Gly
NM_133437.4:c.37492A>G (TTN) NP_597681.4:p.Arg12498Gly
NR_038271.1:n.597-10806T>C (TTN-AS1)
NR_038272.1:n.3188+1797T>C (TTN-AS1)
ENST00000342175.10:c.37492A>G (TTN) ENSP00000340554.6:p.Arg12498Gly
ENST00000342175.11:c.37492A>G (TTN) ENSP00000340554.6:p.Arg12498Gly
ENST00000342992.10:c.56407A>G (TTN) ENSP00000343764.6:p.Arg18803Gly
ENST00000342992.11:c.56407A>G (TTN) ENSP00000343764.6:p.Arg18803Gly
ENST00000359218.10:c.37291A>G (TTN) ENSP00000352154.5:p.Arg12431Gly
ENST00000359218.9:c.37291A>G (TTN) ENSP00000352154.5:p.Arg12431Gly
ENST00000460472.6:c.36916A>G (TTN) ENSP00000434586.1:p.Arg12306Gly
ENST00000591111.5:c.59188A>G (TTN) ENSP00000465570.1:p.Arg19730Gly
ENST00000615779.4:c.59188A>G (TTN) ENSP00000483597.1:p.Arg19730Gly
XM_011511729.1:c.63208A>G (TTN) XP_011510031.1:p.Arg21070Gly
XM_011511730.1:c.37102A>G (TTN) XP_011510032.1:p.Arg12368Gly
XM_011511731.1:c.36961A>G (TTN) XP_011510033.1:p.Arg12321Gly
XM_017004819.1:c.63004A>G (TTN) XP_016860308.1:p.Arg21002Gly
XM_017004820.1:c.58402A>G (TTN) XP_016860309.1:p.Arg19468Gly
XM_017004821.1:c.58399A>G (TTN) XP_016860310.1:p.Arg19467Gly
XM_017004822.1:c.55441A>G (TTN) XP_016860311.1:p.Arg18481Gly
XM_017004823.1:c.37057A>G (TTN) XP_016860312.1:p.Arg12353Gly
XM_024453094.1:c.58552A>G (TTN) XP_024308862.1:p.Arg19518Gly
XM_024453095.1:c.58549A>G (TTN) XP_024308863.1:p.Arg19517Gly
XM_024453096.1:c.57982A>G (TTN) XP_024308864.1:p.Arg19328Gly
XM_024453097.1:c.55324A>G (TTN) XP_024308865.1:p.Arg18442Gly
XM_024453098.1:c.55243A>G (TTN) XP_024308866.1:p.Arg18415Gly
XM_024453099.1:c.37006A>G (TTN) XP_024308867.1:p.Arg12336Gly
XM_024453100.1:c.26860A>G (TTN) XP_024308868.1:p.Arg8954Gly