Canonical Allele Identifier: CA2580065081
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 2019902
ClinVar RCV Id: RCV002871182

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178621761A>G , CM000664.2:g.178621761A>G GRCh38
NC_000002.11:g.179486488A>G , CM000664.1:g.179486488A>G GRCh37
NC_000002.10:g.179194733A>G NCBI36
NG_011618.3:g.214042T>C , LRG_391:g.214042T>C
NG_051363.1:g.103935A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.37379-20T>C ENSP00000343764.6:n.37379-20T>C
ENST00000342175.11:c.18464-20T>C ENSP00000340554.6:n.18464-20T>C
ENST00000359218.10:c.18263-20T>C ENSP00000352154.5:n.18263-20T>C
ENST00000342175.10:c.18464-20T>C ENSP00000340554.6:n.18464-20T>C
ENST00000342992.10:c.37379-20T>C ENSP00000343764.6:n.37379-20T>C
ENST00000359218.9:c.18263-20T>C ENSP00000352154.5:n.18263-20T>C
ENST00000460472.6:c.17888-20T>C ENSP00000434586.1:n.17888-20T>C
ENST00000589042.5:c.45083-20T>C MANE Select ENSP00000467141.1:n.45083-20T>C
ENST00000591111.5:c.40160-20T>C ENSP00000465570.1:n.40160-20T>C
ENST00000615779.4:c.40160-20T>C ENSP00000483597.1:n.40160-20T>C
NM_001256850.1:c.40160-20T>C NP_001243779.1:n.40160-20T>C
NM_001267550.2:c.45083-20T>C MANE Select NP_001254479.2:n.45083-20T>C
NM_003319.4:c.17888-20T>C NP_003310.4:n.17888-20T>C
NM_133378.4:c.37379-20T>C NP_596869.4:n.37379-20T>C
NM_133432.3:c.18263-20T>C NP_597676.3:n.18263-20T>C
NM_133437.4:c.18464-20T>C NP_597681.4:n.18464-20T>C
XM_011511729.1:c.44180-20T>C XP_011510031.1:n.44180-20T>C
XM_011511730.1:c.18074-20T>C XP_011510032.1:n.18074-20T>C
XM_011511731.1:c.17933-20T>C XP_011510033.1:n.17933-20T>C
XM_017004819.1:c.43976-20T>C XP_016860308.1:n.43976-20T>C
XM_017004820.1:c.39374-20T>C XP_016860309.1:n.39374-20T>C
XM_017004821.1:c.39371-20T>C XP_016860310.1:n.39371-20T>C
XM_017004822.1:c.36413-20T>C XP_016860311.1:n.36413-20T>C
XM_017004823.1:c.18029-20T>C XP_016860312.1:n.18029-20T>C
XM_024453094.1:c.39524-20T>C XP_024308862.1:n.39524-20T>C
XM_024453095.1:c.39521-20T>C XP_024308863.1:n.39521-20T>C
XM_024453096.1:c.38954-20T>C XP_024308864.1:n.38954-20T>C
XM_024453097.1:c.36296-20T>C XP_024308865.1:n.36296-20T>C
XM_024453098.1:c.36215-20T>C XP_024308866.1:n.36215-20T>C
XM_024453099.1:c.17978-20T>C XP_024308867.1:n.17978-20T>C
XM_024453100.1:c.7832-20T>C XP_024308868.1:n.7832-20T>C