Canonical Allele Identifier: CA10613331
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 332890
dbSNP Id: rs886055285

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178689275A>C , CM000664.2:g.178689275A>C GRCh38
NC_000002.11:g.179554002A>C , CM000664.1:g.179554002A>C GRCh37
NC_000002.10:g.179262247A>C NCBI36
NG_011618.3:g.146528T>G , LRG_391:g.146528T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342175.11:n.13859-46958T>G ENSP00000340554.6:p.=
ENST00000359218.10:n.13658-46958T>G ENSP00000352154.5:p.=
ENST00000342175.10:c.13859-46958T>G ENSP00000340554.6:p.=
ENST00000342992.10:c.28279+15T>G ENSP00000343764.6:p.=
ENST00000359218.9:c.13658-46958T>G ENSP00000352154.5:p.=
ENST00000414766.5:n.1645+15T>G ENSP00000401501.1:p.=
ENST00000460472.6:c.13283-46958T>G ENSP00000434586.1:p.=
ENST00000589042.5:c.32011+15T>G MANE Select ENSP00000467141.1:p.=
ENST00000591111.5:c.31060+15T>G ENSP00000465570.1:p.=
ENST00000615779.4:c.31060+15T>G ENSP00000483597.1:p.=
NM_001256850.1:c.31060+15T>G NP_001243779.1:p.=
NM_001267550.2:c.32011+15T>G MANE Select NP_001254479.2:p.=
NM_003319.4:c.13283-46958T>G NP_003310.4:p.=
NM_133378.4:c.28279+15T>G NP_596869.4:p.=
NM_133432.3:c.13658-46958T>G NP_597676.3:p.=
NM_133437.4:c.13859-46958T>G NP_597681.4:p.=
XM_011511729.1:c.31108+15T>G XP_011510031.1:p.=
XM_011511730.1:c.13469-46958T>G XP_011510032.1:p.=
XM_011511731.1:c.13328-46958T>G XP_011510033.1:p.=
XM_017004819.1:c.31063+15T>G XP_016860308.1:p.=
XM_017004820.1:c.28282+15T>G XP_016860309.1:p.=
XM_017004821.1:c.28279+15T>G XP_016860310.1:p.=
XM_017004822.1:c.31063+15T>G XP_016860311.1:p.=
XM_017004823.1:c.13424-46958T>G XP_016860312.1:p.=
XM_024453094.1:c.31063+15T>G XP_024308862.1:p.=
XM_024453095.1:c.31063+15T>G XP_024308863.1:p.=
XM_024453096.1:c.31063+15T>G XP_024308864.1:p.=
XM_024453097.1:c.30898+538T>G XP_024308865.1:p.=
XM_024453098.1:c.30898+538T>G XP_024308866.1:p.=
XM_024453099.1:c.13424-46958T>G XP_024308867.1:p.=