Canonical Allele Identifier: CA181883
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 178238
dbSNP Id: rs191854953

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178720952G>A , CM000664.2:g.178720952G>A GRCh38
NC_000002.11:g.179585679G>A , CM000664.1:g.179585679G>A GRCh37
NC_000002.10:g.179293924G>A NCBI36
NG_011618.3:g.114851C>T , LRG_391:g.114851C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.19335C>T ENSP00000343764.6:p.Asp6445=
ENST00000342175.11:c.13858+17130C>T ENSP00000340554.6:n.13858+17130C>T
ENST00000359218.10:c.13657+17130C>T ENSP00000352154.5:n.13657+17130C>T
ENST00000342175.10:c.13858+17130C>T ENSP00000340554.6:n.13858+17130C>T
ENST00000342992.10:c.19335C>T ENSP00000343764.6:p.Asp6445=
ENST00000359218.9:c.13657+17130C>T ENSP00000352154.5:n.13657+17130C>T
ENST00000460472.6:c.13282+17130C>T ENSP00000434586.1:n.13282+17130C>T
ENST00000589042.5:c.23067C>T MANE Select ENSP00000467141.1:p.Asp7689=
ENST00000591111.5:c.22116C>T ENSP00000465570.1:p.Asp7372=
ENST00000615779.4:c.22116C>T ENSP00000483597.1:p.Asp7372=
NM_001256850.1:c.22116C>T NP_001243779.1:p.Asp7372=
NM_001267550.2:c.23067C>T MANE Select NP_001254479.2:p.Asp7689=
NM_003319.4:c.13282+17130C>T NP_003310.4:n.13282+17130C>T
NM_133378.4:c.19335C>T NP_596869.4:p.Asp6445=
NM_133432.3:c.13657+17130C>T NP_597676.3:n.13657+17130C>T
NM_133437.4:c.13858+17130C>T NP_597681.4:n.13858+17130C>T
XM_011511729.1:c.22164C>T XP_011510031.1:p.Asp7388=
XM_011511730.1:c.13468+17130C>T XP_011510032.1:n.13468+17130C>T
XM_011511731.1:c.13327+17130C>T XP_011510033.1:n.13327+17130C>T
XM_017004819.1:c.22119C>T XP_016860308.1:p.Asp7373=
XM_017004820.1:c.19338C>T XP_016860309.1:p.Asp6446=
XM_017004821.1:c.19335C>T XP_016860310.1:p.Asp6445=
XM_017004822.1:c.22119C>T XP_016860311.1:p.Asp7373=
XM_017004823.1:c.13423+17130C>T XP_016860312.1:n.13423+17130C>T
XM_024453094.1:c.22119C>T XP_024308862.1:p.Asp7373=
XM_024453095.1:c.22119C>T XP_024308863.1:p.Asp7373=
XM_024453096.1:c.22119C>T XP_024308864.1:p.Asp7373=
XM_024453097.1:c.22119C>T XP_024308865.1:p.Asp7373=
XM_024453098.1:c.22119C>T XP_024308866.1:p.Asp7373=
XM_024453099.1:c.13423+17130C>T XP_024308867.1:n.13423+17130C>T