Canonical Allele Identifier: CA1991931
Community Standard Title: NM_001267550.2(TTN):c.64238A>G (p.Asp21413Gly)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178586663T>C , CM000664.2:g.178586663T>C GRCh38
NC_000002.11:g.179451390T>C , CM000664.1:g.179451390T>C GRCh37
NC_000002.10:g.179159636T>C NCBI36
NG_011618.3:g.249140A>G , LRG_391:g.249140A>G
NG_051363.1:g.68837T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.64238A>G (TTN) MANE Select NP_001254479.2:p.Asp21413Gly
ENST00000589042.5:c.64238A>G (TTN) MANE Select ENSP00000467141.1:p.Asp21413Gly
NM_001256850.1:c.59315A>G (TTN) NP_001243779.1:p.Asp19772Gly
NM_003319.4:c.37043A>G (TTN) NP_003310.4:p.Asp12348Gly
NM_133378.4:c.56534A>G (TTN) NP_596869.4:p.Asp18845Gly
NM_133432.3:c.37418A>G (TTN) NP_597676.3:p.Asp12473Gly
NM_133437.4:c.37619A>G (TTN) NP_597681.4:p.Asp12540Gly
NR_038271.1:n.597-10933T>C (TTN-AS1)
NR_038272.1:n.3188+1670T>C (TTN-AS1)
ENST00000342175.10:c.37619A>G (TTN) ENSP00000340554.6:p.Asp12540Gly
ENST00000342175.11:c.37619A>G (TTN) ENSP00000340554.6:p.Asp12540Gly
ENST00000342992.10:c.56534A>G (TTN) ENSP00000343764.6:p.Asp18845Gly
ENST00000342992.11:c.56534A>G (TTN) ENSP00000343764.6:p.Asp18845Gly
ENST00000359218.10:c.37418A>G (TTN) ENSP00000352154.5:p.Asp12473Gly
ENST00000359218.9:c.37418A>G (TTN) ENSP00000352154.5:p.Asp12473Gly
ENST00000460472.6:c.37043A>G (TTN) ENSP00000434586.1:p.Asp12348Gly
ENST00000591111.5:c.59315A>G (TTN) ENSP00000465570.1:p.Asp19772Gly
ENST00000615779.4:c.59315A>G (TTN) ENSP00000483597.1:p.Asp19772Gly
XM_011511729.1:c.63335A>G (TTN) XP_011510031.1:p.Asp21112Gly
XM_011511730.1:c.37229A>G (TTN) XP_011510032.1:p.Asp12410Gly
XM_011511731.1:c.37088A>G (TTN) XP_011510033.1:p.Asp12363Gly
XM_017004819.1:c.63131A>G (TTN) XP_016860308.1:p.Asp21044Gly
XM_017004820.1:c.58529A>G (TTN) XP_016860309.1:p.Asp19510Gly
XM_017004821.1:c.58526A>G (TTN) XP_016860310.1:p.Asp19509Gly
XM_017004822.1:c.55568A>G (TTN) XP_016860311.1:p.Asp18523Gly
XM_017004823.1:c.37184A>G (TTN) XP_016860312.1:p.Asp12395Gly
XM_024453094.1:c.58679A>G (TTN) XP_024308862.1:p.Asp19560Gly
XM_024453095.1:c.58676A>G (TTN) XP_024308863.1:p.Asp19559Gly
XM_024453096.1:c.58109A>G (TTN) XP_024308864.1:p.Asp19370Gly
XM_024453097.1:c.55451A>G (TTN) XP_024308865.1:p.Asp18484Gly
XM_024453098.1:c.55370A>G (TTN) XP_024308866.1:p.Asp18457Gly
XM_024453099.1:c.37133A>G (TTN) XP_024308867.1:p.Asp12378Gly
XM_024453100.1:c.26987A>G (TTN) XP_024308868.1:p.Asp8996Gly