Canonical Allele Identifier: CA349607731

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614664C>G , CM000664.2:g.178614664C>G GRCh38
NC_000002.11:g.179479391C>G , CM000664.1:g.179479391C>G GRCh37
NC_000002.10:g.179187636C>G NCBI36
NG_011618.3:g.221139G>C , LRG_391:g.221139G>C
NG_051363.1:g.96838C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41146G>C (TTN) ENSP00000343764.6:p.Gly13716Arg
ENST00000342175.11:c.22231G>C (TTN) ENSP00000340554.6:p.Gly7411Arg
ENST00000359218.10:c.22030G>C (TTN) ENSP00000352154.5:p.Gly7344Arg
ENST00000342175.10:c.22231G>C (TTN) ENSP00000340554.6:p.Gly7411Arg
ENST00000342992.10:c.41146G>C (TTN) ENSP00000343764.6:p.Gly13716Arg
ENST00000359218.9:c.22030G>C (TTN) ENSP00000352154.5:p.Gly7344Arg
ENST00000460472.6:c.21655G>C (TTN) ENSP00000434586.1:p.Gly7219Arg
ENST00000589042.5:c.48850G>C (TTN) MANE Select ENSP00000467141.1:p.Gly16284Arg
ENST00000591111.5:c.43927G>C (TTN) ENSP00000465570.1:p.Gly14643Arg
ENST00000615779.4:c.43927G>C (TTN) ENSP00000483597.1:p.Gly14643Arg
NM_001256850.1:c.43927G>C (TTN) NP_001243779.1:p.Gly14643Arg
NM_001267550.2:c.48850G>C (TTN) MANE Select NP_001254479.2:p.Gly16284Arg
NM_003319.4:c.21655G>C (TTN) NP_003310.4:p.Gly7219Arg
NM_133378.4:c.41146G>C (TTN) NP_596869.4:p.Gly13716Arg
NM_133432.3:c.22030G>C (TTN) NP_597676.3:p.Gly7344Arg
NM_133437.4:c.22231G>C (TTN) NP_597681.4:p.Gly7411Arg
NR_038271.1:n.1412C>G (TTN-AS1)
XM_011511729.1:c.47947G>C (TTN) XP_011510031.1:p.Gly15983Arg
XM_011511730.1:c.21841G>C (TTN) XP_011510032.1:p.Gly7281Arg
XM_011511731.1:c.21700G>C (TTN) XP_011510033.1:p.Gly7234Arg
XM_017004819.1:c.47743G>C (TTN) XP_016860308.1:p.Gly15915Arg
XM_017004820.1:c.43141G>C (TTN) XP_016860309.1:p.Gly14381Arg
XM_017004821.1:c.43138G>C (TTN) XP_016860310.1:p.Gly14380Arg
XM_017004822.1:c.40180G>C (TTN) XP_016860311.1:p.Gly13394Arg
XM_017004823.1:c.21796G>C (TTN) XP_016860312.1:p.Gly7266Arg
XM_024453094.1:c.43291G>C (TTN) XP_024308862.1:p.Gly14431Arg
XM_024453095.1:c.43288G>C (TTN) XP_024308863.1:p.Gly14430Arg
XM_024453096.1:c.42721G>C (TTN) XP_024308864.1:p.Gly14241Arg
XM_024453097.1:c.40063G>C (TTN) XP_024308865.1:p.Gly13355Arg
XM_024453098.1:c.39982G>C (TTN) XP_024308866.1:p.Gly13328Arg
XM_024453099.1:c.21745G>C (TTN) XP_024308867.1:p.Gly7249Arg
XM_024453100.1:c.11599G>C (TTN) XP_024308868.1:p.Gly3867Arg