Canonical Allele Identifier: CA283101
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 46859
dbSNP Id: rs2244492

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178689578C>T , CM000664.2:g.178689578C>T GRCh38
NC_000002.11:g.179554305C>T , CM000664.1:g.179554305C>T GRCh37
NC_000002.10:g.179262550C>T NCBI36
NG_011618.3:g.146225G>A , LRG_391:g.146225G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.28132G>A ENSP00000343764.6:p.Gly9378Arg
ENST00000342175.11:c.13859-47261G>A ENSP00000340554.6:n.13859-47261G>A
ENST00000359218.10:c.13658-47261G>A ENSP00000352154.5:n.13658-47261G>A
ENST00000342175.10:c.13859-47261G>A ENSP00000340554.6:n.13859-47261G>A
ENST00000342992.10:c.28132G>A ENSP00000343764.6:p.Gly9378Arg
ENST00000359218.9:c.13658-47261G>A ENSP00000352154.5:n.13658-47261G>A
ENST00000414766.5:c.1498G>A ENSP00000401501.1:p.Gly500Arg
ENST00000460472.6:c.13283-47261G>A ENSP00000434586.1:n.13283-47261G>A
ENST00000589042.5:c.31864G>A MANE Select ENSP00000467141.1:p.Gly10622Arg
ENST00000591111.5:c.30913G>A ENSP00000465570.1:p.Gly10305Arg
ENST00000615779.4:c.30913G>A ENSP00000483597.1:p.Gly10305Arg
NM_001256850.1:c.30913G>A NP_001243779.1:p.Gly10305Arg
NM_001267550.2:c.31864G>A MANE Select NP_001254479.2:p.Gly10622Arg
NM_003319.4:c.13283-47261G>A NP_003310.4:n.13283-47261G>A
NM_133378.4:c.28132G>A NP_596869.4:p.Gly9378Arg
NM_133432.3:c.13658-47261G>A NP_597676.3:n.13658-47261G>A
NM_133437.4:c.13859-47261G>A NP_597681.4:n.13859-47261G>A
XM_011511729.1:c.30961G>A XP_011510031.1:p.Gly10321Arg
XM_011511730.1:c.13469-47261G>A XP_011510032.1:n.13469-47261G>A
XM_011511731.1:c.13328-47261G>A XP_011510033.1:n.13328-47261G>A
XM_017004819.1:c.30916G>A XP_016860308.1:p.Gly10306Arg
XM_017004820.1:c.28135G>A XP_016860309.1:p.Gly9379Arg
XM_017004821.1:c.28132G>A XP_016860310.1:p.Gly9378Arg
XM_017004822.1:c.30916G>A XP_016860311.1:p.Gly10306Arg
XM_017004823.1:c.13424-47261G>A XP_016860312.1:n.13424-47261G>A
XM_024453094.1:c.30916G>A XP_024308862.1:p.Gly10306Arg
XM_024453095.1:c.30916G>A XP_024308863.1:p.Gly10306Arg
XM_024453096.1:c.30916G>A XP_024308864.1:p.Gly10306Arg
XM_024453097.1:c.30898+235G>A XP_024308865.1:n.30898+235G>A
XM_024453098.1:c.30898+235G>A XP_024308866.1:n.30898+235G>A
XM_024453099.1:c.13424-47261G>A XP_024308867.1:n.13424-47261G>A