Canonical Allele Identifier: CA141868
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 47773
dbSNP Id: rs150615457

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178747908C>T , CM000664.2:g.178747908C>T GRCh38
NC_000002.11:g.179612635C>T , CM000664.1:g.179612635C>T GRCh37
NC_000002.10:g.179320880C>T NCBI36
NG_011618.3:g.87895G>A , LRG_391:g.87895G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342175.11:n.10798+5216G>A ENSP00000340554.6:p.=
ENST00000359218.10:n.10597+5216G>A ENSP00000352154.5:p.=
ENST00000360870.10:c.14492G>A MANE Plus Clinical ENSP00000354117.4:p.Cys4831Tyr
ENST00000342175.10:c.10798+5216G>A ENSP00000340554.6:p.=
ENST00000342992.10:c.10360+5216G>A ENSP00000343764.6:p.=
ENST00000359218.9:c.10597+5216G>A ENSP00000352154.5:p.=
ENST00000360870.9:c.14492G>A ENSP00000354117.4:p.Cys4831Tyr
ENST00000460472.6:c.10222+5216G>A ENSP00000434586.1:p.=
ENST00000589042.5:c.11311+5216G>A MANE Select ENSP00000467141.1:p.=
ENST00000591111.5:c.10360+5216G>A ENSP00000465570.1:p.=
ENST00000615779.4:c.10360+5216G>A ENSP00000483597.1:p.=
NM_001256850.1:c.10360+5216G>A NP_001243779.1:p.=
NM_001267550.2:c.11311+5216G>A MANE Select NP_001254479.2:p.=
NM_003319.4:c.10222+5216G>A NP_003310.4:p.=
NM_133378.4:c.10360+5216G>A NP_596869.4:p.=
NM_133379.4:c.14492G>A , LRG_391t2:c.14492G>A NP_596870.2:p.Cys4831Tyr
NM_133432.3:c.10597+5216G>A NP_597676.3:p.=
NM_133437.4:c.10798+5216G>A NP_597681.4:p.=
XM_011511729.1:c.10408+5216G>A XP_011510031.1:p.=
XM_011511730.1:c.10408+5216G>A XP_011510032.1:p.=
XM_011511731.1:c.10267+5216G>A XP_011510033.1:p.=
XM_011511732.1:c.14537G>A XP_011510034.1:p.Cys4846Tyr
XM_017004819.1:c.10363+5216G>A XP_016860308.1:p.=
XM_017004820.1:c.10363+5216G>A XP_016860309.1:p.=
XM_017004821.1:c.10360+5216G>A XP_016860310.1:p.=
XM_017004822.1:c.10363+5216G>A XP_016860311.1:p.=
XM_017004823.1:c.10363+5216G>A XP_016860312.1:p.=
XM_024453094.1:c.10363+5216G>A XP_024308862.1:p.=
XM_024453095.1:c.10363+5216G>A XP_024308863.1:p.=
XM_024453096.1:c.10363+5216G>A XP_024308864.1:p.=
XM_024453097.1:c.10363+5216G>A XP_024308865.1:p.=
XM_024453098.1:c.10363+5216G>A XP_024308866.1:p.=
XM_024453099.1:c.10363+5216G>A XP_024308867.1:p.=
NM_133379.5:c.14492G>A MANE Plus Clinical NP_596870.2:p.Cys4831Tyr