Canonical Allele Identifier: CA349466615

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546248C>G , CM000664.2:g.178546248C>G GRCh38
NC_000002.11:g.179410975C>G , CM000664.1:g.179410975C>G GRCh37
NC_000002.10:g.179119221C>G NCBI36
NG_011618.3:g.289555G>C , LRG_391:g.289555G>C
NG_051363.1:g.28422C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87379G>C (TTN) ENSP00000343764.6:p.Gly29127Arg
ENST00000342175.11:c.68464G>C (TTN) ENSP00000340554.6:p.Gly22822Arg
ENST00000359218.10:c.68263G>C (TTN) ENSP00000352154.5:p.Gly22755Arg
ENST00000342175.10:c.68464G>C (TTN) ENSP00000340554.6:p.Gly22822Arg
ENST00000342992.10:c.87379G>C (TTN) ENSP00000343764.6:p.Gly29127Arg
ENST00000359218.9:c.68263G>C (TTN) ENSP00000352154.5:p.Gly22755Arg
ENST00000460472.6:c.67888G>C (TTN) ENSP00000434586.1:p.Gly22630Arg
ENST00000589042.5:c.95083G>C (TTN) MANE Select ENSP00000467141.1:p.Gly31695Arg
ENST00000591111.5:c.90160G>C (TTN) ENSP00000465570.1:p.Gly30054Arg
ENST00000615779.4:c.90160G>C (TTN) ENSP00000483597.1:p.Gly30054Arg
NM_001256850.1:c.90160G>C (TTN) NP_001243779.1:p.Gly30054Arg
NM_001267550.2:c.95083G>C (TTN) MANE Select NP_001254479.2:p.Gly31695Arg
NM_003319.4:c.67888G>C (TTN) NP_003310.4:p.Gly22630Arg
NM_133378.4:c.87379G>C (TTN) NP_596869.4:p.Gly29127Arg
NM_133432.3:c.68263G>C (TTN) NP_597676.3:p.Gly22755Arg
NM_133437.4:c.68464G>C (TTN) NP_597681.4:p.Gly22822Arg
NR_038271.1:n.446+22612C>G (TTN-AS1)
NR_038272.1:n.2043+3887C>G (TTN-AS1)
XM_011511729.1:c.94180G>C (TTN) XP_011510031.1:p.Gly31394Arg
XM_011511730.1:c.68074G>C (TTN) XP_011510032.1:p.Gly22692Arg
XM_011511731.1:c.67933G>C (TTN) XP_011510033.1:p.Gly22645Arg
XM_017004819.1:c.93976G>C (TTN) XP_016860308.1:p.Gly31326Arg
XM_017004820.1:c.89374G>C (TTN) XP_016860309.1:p.Gly29792Arg
XM_017004821.1:c.89371G>C (TTN) XP_016860310.1:p.Gly29791Arg
XM_017004822.1:c.86413G>C (TTN) XP_016860311.1:p.Gly28805Arg
XM_017004823.1:c.68029G>C (TTN) XP_016860312.1:p.Gly22677Arg
XM_024453094.1:c.89524G>C (TTN) XP_024308862.1:p.Gly29842Arg
XM_024453095.1:c.89521G>C (TTN) XP_024308863.1:p.Gly29841Arg
XM_024453096.1:c.88954G>C (TTN) XP_024308864.1:p.Gly29652Arg
XM_024453097.1:c.86296G>C (TTN) XP_024308865.1:p.Gly28766Arg
XM_024453098.1:c.86215G>C (TTN) XP_024308866.1:p.Gly28739Arg
XM_024453099.1:c.67978G>C (TTN) XP_024308867.1:p.Gly22660Arg
XM_024453100.1:c.57832G>C (TTN) XP_024308868.1:p.Gly19278Arg