Canonical Allele Identifier: CA10612082
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 332877
dbSNP Id: rs886055279

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178651535C>T , CM000664.2:g.178651535C>T GRCh38
NC_000002.11:g.179516262C>T , CM000664.1:g.179516262C>T GRCh37
NC_000002.10:g.179224507C>T NCBI36
NG_011618.3:g.184268G>A , LRG_391:g.184268G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.32163G>A ENSP00000343764.6:p.Val10721=
ENST00000342175.11:c.13859-9218G>A ENSP00000340554.6:n.13859-9218G>A
ENST00000359218.10:c.13658-9218G>A ENSP00000352154.5:n.13658-9218G>A
ENST00000342175.10:c.13859-9218G>A ENSP00000340554.6:n.13859-9218G>A
ENST00000342992.10:c.32163G>A ENSP00000343764.6:p.Val10721=
ENST00000359218.9:c.13658-9218G>A ENSP00000352154.5:n.13658-9218G>A
ENST00000414766.5:c.2441-9218G>A ENSP00000401501.1:n.2441-9218G>A
ENST00000460472.6:c.13283-9218G>A ENSP00000434586.1:n.13283-9218G>A
ENST00000589042.5:c.39465G>A MANE Select ENSP00000467141.1:p.Val13155=
ENST00000591111.5:c.34944G>A ENSP00000465570.1:p.Val11648=
ENST00000615779.4:c.34944G>A ENSP00000483597.1:p.Val11648=
NM_001256850.1:c.34944G>A NP_001243779.1:p.Val11648=
NM_001267550.2:c.39465G>A MANE Select NP_001254479.2:p.Val13155=
NM_003319.4:c.13283-9218G>A NP_003310.4:n.13283-9218G>A
NM_133378.4:c.32163G>A NP_596869.4:p.Val10721=
NM_133432.3:c.13658-9218G>A NP_597676.3:n.13658-9218G>A
NM_133437.4:c.13859-9218G>A NP_597681.4:n.13859-9218G>A
XM_011511729.1:c.38562G>A XP_011510031.1:p.Val12854=
XM_011511730.1:c.13469-9218G>A XP_011510032.1:n.13469-9218G>A
XM_011511731.1:c.13328-9218G>A XP_011510033.1:n.13328-9218G>A
XM_017004819.1:c.38358G>A XP_016860308.1:p.Val12786=
XM_017004820.1:c.33756G>A XP_016860309.1:p.Val11252=
XM_017004821.1:c.33753G>A XP_016860310.1:p.Val11251=
XM_017004822.1:c.31859-9218G>A XP_016860311.1:n.31859-9218G>A
XM_017004823.1:c.13424-9218G>A XP_016860312.1:n.13424-9218G>A
XM_024453094.1:c.33906G>A XP_024308862.1:p.Val11302=
XM_024453095.1:c.33903G>A XP_024308863.1:p.Val11301=
XM_024453096.1:c.33336G>A XP_024308864.1:p.Val11112=
XM_024453097.1:c.31691-9218G>A XP_024308865.1:n.31691-9218G>A
XM_024453098.1:c.31610-9218G>A XP_024308866.1:n.31610-9218G>A
XM_024453099.1:c.13424-9218G>A XP_024308867.1:n.13424-9218G>A
XM_024453100.1:c.2214G>A XP_024308868.1:p.Val738=