Canonical Allele Identifier: CA261922
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 47820
dbSNP Id: rs397517830

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178741025C>A , CM000664.2:g.178741025C>A GRCh38
NC_000002.11:g.179605752C>A , CM000664.1:g.179605752C>A GRCh37
NC_000002.10:g.179313997C>A NCBI36
NG_011618.3:g.94778G>T , LRG_391:g.94778G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.10361-2665G>T ENSP00000343764.6:n.10361-2665G>T
ENST00000342175.11:c.11695G>T ENSP00000340554.6:p.Glu3899Ter
ENST00000359218.10:c.11494G>T ENSP00000352154.5:p.Glu3832Ter
ENST00000342175.10:c.11695G>T ENSP00000340554.6:p.Glu3899Ter
ENST00000342992.10:c.10361-2665G>T ENSP00000343764.6:n.10361-2665G>T
ENST00000359218.9:c.11494G>T ENSP00000352154.5:p.Glu3832Ter
ENST00000460472.6:c.11119G>T ENSP00000434586.1:p.Glu3707Ter
ENST00000589042.5:c.12208G>T MANE Select ENSP00000467141.1:p.Glu4070Ter
ENST00000591111.5:c.11257G>T ENSP00000465570.1:p.Glu3753Ter
ENST00000615779.4:c.11257G>T ENSP00000483597.1:p.Glu3753Ter
NM_001256850.1:c.11257G>T NP_001243779.1:p.Glu3753Ter
NM_001267550.2:c.12208G>T MANE Select NP_001254479.2:p.Glu4070Ter
NM_003319.4:c.11119G>T NP_003310.4:p.Glu3707Ter
NM_133378.4:c.10361-2665G>T NP_596869.4:n.10361-2665G>T
NM_133432.3:c.11494G>T NP_597676.3:p.Glu3832Ter
NM_133437.4:c.11695G>T NP_597681.4:p.Glu3899Ter
XM_011511729.1:c.11305G>T XP_011510031.1:p.Glu3769Ter
XM_011511730.1:c.11305G>T XP_011510032.1:p.Glu3769Ter
XM_011511731.1:c.11164G>T XP_011510033.1:p.Glu3722Ter
XM_017004819.1:c.11260G>T XP_016860308.1:p.Glu3754Ter
XM_017004820.1:c.10364-2665G>T XP_016860309.1:n.10364-2665G>T
XM_017004821.1:c.10361-2665G>T XP_016860310.1:n.10361-2665G>T
XM_017004822.1:c.11260G>T XP_016860311.1:p.Glu3754Ter
XM_017004823.1:c.11260G>T XP_016860312.1:p.Glu3754Ter
XM_024453094.1:c.11260G>T XP_024308862.1:p.Glu3754Ter
XM_024453095.1:c.11260G>T XP_024308863.1:p.Glu3754Ter
XM_024453096.1:c.11260G>T XP_024308864.1:p.Glu3754Ter
XM_024453097.1:c.11260G>T XP_024308865.1:p.Glu3754Ter
XM_024453098.1:c.11260G>T XP_024308866.1:p.Glu3754Ter
XM_024453099.1:c.11260G>T XP_024308867.1:p.Glu3754Ter