Canonical Allele Identifier: CA1993906
Community Standard Title: NM_001267550.2(TTN):c.52908G>C (p.Glu17636Asp)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178607879C>G , CM000664.2:g.178607879C>G GRCh38
NC_000002.11:g.179472606C>G , CM000664.1:g.179472606C>G GRCh37
NC_000002.10:g.179180851C>G NCBI36
NG_011618.3:g.227924G>C , LRG_391:g.227924G>C
NG_051363.1:g.90053C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.52908G>C (TTN) MANE Select NP_001254479.2:p.Glu17636Asp
ENST00000589042.5:c.52908G>C (TTN) MANE Select ENSP00000467141.1:p.Glu17636Asp
NM_001256850.1:c.47985G>C (TTN) NP_001243779.1:p.Glu15995Asp
NM_003319.4:c.25713G>C (TTN) NP_003310.4:p.Glu8571Asp
NM_133378.4:c.45204G>C (TTN) NP_596869.4:p.Glu15068Asp
NM_133432.3:c.26088G>C (TTN) NP_597676.3:p.Glu8696Asp
NM_133437.4:c.26289G>C (TTN) NP_597681.4:p.Glu8763Asp
NR_038271.1:n.683-288C>G (TTN-AS1)
ENST00000342175.10:c.26289G>C (TTN) ENSP00000340554.6:p.Glu8763Asp
ENST00000342175.11:c.26289G>C (TTN) ENSP00000340554.6:p.Glu8763Asp
ENST00000342992.10:c.45204G>C (TTN) ENSP00000343764.6:p.Glu15068Asp
ENST00000342992.11:c.45204G>C (TTN) ENSP00000343764.6:p.Glu15068Asp
ENST00000359218.10:c.26088G>C (TTN) ENSP00000352154.5:p.Glu8696Asp
ENST00000359218.9:c.26088G>C (TTN) ENSP00000352154.5:p.Glu8696Asp
ENST00000460472.6:c.25713G>C (TTN) ENSP00000434586.1:p.Glu8571Asp
ENST00000591111.5:c.47985G>C (TTN) ENSP00000465570.1:p.Glu15995Asp
ENST00000615779.4:c.47985G>C (TTN) ENSP00000483597.1:p.Glu15995Asp
XM_011511729.1:c.52005G>C (TTN) XP_011510031.1:p.Glu17335Asp
XM_011511730.1:c.25899G>C (TTN) XP_011510032.1:p.Glu8633Asp
XM_011511731.1:c.25758G>C (TTN) XP_011510033.1:p.Glu8586Asp
XM_017004819.1:c.51801G>C (TTN) XP_016860308.1:p.Glu17267Asp
XM_017004820.1:c.47199G>C (TTN) XP_016860309.1:p.Glu15733Asp
XM_017004821.1:c.47196G>C (TTN) XP_016860310.1:p.Glu15732Asp
XM_017004822.1:c.44238G>C (TTN) XP_016860311.1:p.Glu14746Asp
XM_017004823.1:c.25854G>C (TTN) XP_016860312.1:p.Glu8618Asp
XM_024453094.1:c.47349G>C (TTN) XP_024308862.1:p.Glu15783Asp
XM_024453095.1:c.47346G>C (TTN) XP_024308863.1:p.Glu15782Asp
XM_024453096.1:c.46779G>C (TTN) XP_024308864.1:p.Glu15593Asp
XM_024453097.1:c.44121G>C (TTN) XP_024308865.1:p.Glu14707Asp
XM_024453098.1:c.44040G>C (TTN) XP_024308866.1:p.Glu14680Asp
XM_024453099.1:c.25803G>C (TTN) XP_024308867.1:p.Glu8601Asp
XM_024453100.1:c.15657G>C (TTN) XP_024308868.1:p.Glu5219Asp