Canonical Allele Identifier: CA349459670

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178545471T>C , CM000664.2:g.178545471T>C GRCh38
NC_000002.11:g.179410198T>C , CM000664.1:g.179410198T>C GRCh37
NC_000002.10:g.179118444T>C NCBI36
NG_011618.3:g.290332A>G , LRG_391:g.290332A>G
NG_051363.1:g.27645T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87935A>G (TTN) ENSP00000343764.6:p.Gln29312Arg
ENST00000342175.11:c.69020A>G (TTN) ENSP00000340554.6:p.Gln23007Arg
ENST00000359218.10:c.68819A>G (TTN) ENSP00000352154.5:p.Gln22940Arg
ENST00000342175.10:c.69020A>G (TTN) ENSP00000340554.6:p.Gln23007Arg
ENST00000342992.10:c.87935A>G (TTN) ENSP00000343764.6:p.Gln29312Arg
ENST00000359218.9:c.68819A>G (TTN) ENSP00000352154.5:p.Gln22940Arg
ENST00000460472.6:c.68444A>G (TTN) ENSP00000434586.1:p.Gln22815Arg
ENST00000589042.5:c.95639A>G (TTN) MANE Select ENSP00000467141.1:p.Gln31880Arg
ENST00000591111.5:c.90716A>G (TTN) ENSP00000465570.1:p.Gln30239Arg
ENST00000615779.4:c.90716A>G (TTN) ENSP00000483597.1:p.Gln30239Arg
NM_001256850.1:c.90716A>G (TTN) NP_001243779.1:p.Gln30239Arg
NM_001267550.2:c.95639A>G (TTN) MANE Select NP_001254479.2:p.Gln31880Arg
NM_003319.4:c.68444A>G (TTN) NP_003310.4:p.Gln22815Arg
NM_133378.4:c.87935A>G (TTN) NP_596869.4:p.Gln29312Arg
NM_133432.3:c.68819A>G (TTN) NP_597676.3:p.Gln22940Arg
NM_133437.4:c.69020A>G (TTN) NP_597681.4:p.Gln23007Arg
NR_038271.1:n.446+21835T>C (TTN-AS1)
NR_038272.1:n.2043+3110T>C (TTN-AS1)
XM_011511729.1:c.94736A>G (TTN) XP_011510031.1:p.Gln31579Arg
XM_011511730.1:c.68630A>G (TTN) XP_011510032.1:p.Gln22877Arg
XM_011511731.1:c.68489A>G (TTN) XP_011510033.1:p.Gln22830Arg
XM_017004819.1:c.94532A>G (TTN) XP_016860308.1:p.Gln31511Arg
XM_017004820.1:c.89930A>G (TTN) XP_016860309.1:p.Gln29977Arg
XM_017004821.1:c.89927A>G (TTN) XP_016860310.1:p.Gln29976Arg
XM_017004822.1:c.86969A>G (TTN) XP_016860311.1:p.Gln28990Arg
XM_017004823.1:c.68585A>G (TTN) XP_016860312.1:p.Gln22862Arg
XM_024453094.1:c.90080A>G (TTN) XP_024308862.1:p.Gln30027Arg
XM_024453095.1:c.90077A>G (TTN) XP_024308863.1:p.Gln30026Arg
XM_024453096.1:c.89510A>G (TTN) XP_024308864.1:p.Gln29837Arg
XM_024453097.1:c.86852A>G (TTN) XP_024308865.1:p.Gln28951Arg
XM_024453098.1:c.86771A>G (TTN) XP_024308866.1:p.Gln28924Arg
XM_024453099.1:c.68534A>G (TTN) XP_024308867.1:p.Gln22845Arg
XM_024453100.1:c.58388A>G (TTN) XP_024308868.1:p.Gln19463Arg