Canonical Allele Identifier: CA1139655715

Linked Data

ClinVar Variation Id: 931526
ClinVar RCV Id: RCV001198133
dbSNP Id: rs2050860445

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178594027dup , CM000664.2:g.178594027dup GRCh38
NC_000002.11:g.179458754dup , CM000664.1:g.179458754dup GRCh37
NC_000002.10:g.179167000dup NCBI36
NG_011618.3:g.241778dup , LRG_391:g.241778dup
NG_051363.1:g.76201dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.50664dup (TTN) ENSP00000343764.6:p.Tyr16889IlefsTer12
ENST00000342175.11:c.31749dup (TTN) ENSP00000340554.6:p.Tyr10584IlefsTer12
ENST00000359218.10:c.31548dup (TTN) ENSP00000352154.5:p.Tyr10517IlefsTer12
ENST00000342175.10:c.31749dup (TTN) ENSP00000340554.6:p.Tyr10584IlefsTer12
ENST00000342992.10:c.50664dup (TTN) ENSP00000343764.6:p.Tyr16889IlefsTer12
ENST00000359218.9:c.31548dup (TTN) ENSP00000352154.5:p.Tyr10517IlefsTer12
ENST00000460472.6:c.31173dup (TTN) ENSP00000434586.1:p.Tyr10392IlefsTer12
ENST00000589042.5:c.58368dup (TTN) MANE Select ENSP00000467141.1:p.Tyr19457IlefsTer12
ENST00000591111.5:c.53445dup (TTN) ENSP00000465570.1:p.Tyr17816IlefsTer12
ENST00000615779.4:c.53445dup (TTN) ENSP00000483597.1:p.Tyr17816IlefsTer12
NM_001256850.1:c.53445dup (TTN) NP_001243779.1:p.Tyr17816IlefsTer12
NM_001267550.2:c.58368dup (TTN) MANE Select NP_001254479.2:p.Tyr19457IlefsTer12
NM_003319.4:c.31173dup (TTN) NP_003310.4:p.Tyr10392IlefsTer12
NM_133378.4:c.50664dup (TTN) NP_596869.4:p.Tyr16889IlefsTer12
NM_133432.3:c.31548dup (TTN) NP_597676.3:p.Tyr10517IlefsTer12
NM_133437.4:c.31749dup (TTN) NP_597681.4:p.Tyr10584IlefsTer12
NR_038271.1:n.597-3569dup (TTN-AS1)
NR_038272.1:n.3364+2713dup (TTN-AS1)
XM_011511729.1:c.57465dup (TTN) XP_011510031.1:p.Tyr19156IlefsTer12
XM_011511730.1:c.31359dup (TTN) XP_011510032.1:p.Tyr10454IlefsTer12
XM_011511731.1:c.31218dup (TTN) XP_011510033.1:p.Tyr10407IlefsTer12
XM_017004819.1:c.57261dup (TTN) XP_016860308.1:p.Tyr19088IlefsTer12
XM_017004820.1:c.52659dup (TTN) XP_016860309.1:p.Tyr17554IlefsTer12
XM_017004821.1:c.52656dup (TTN) XP_016860310.1:p.Tyr17553IlefsTer12
XM_017004822.1:c.49698dup (TTN) XP_016860311.1:p.Tyr16567IlefsTer12
XM_017004823.1:c.31314dup (TTN) XP_016860312.1:p.Tyr10439IlefsTer12
XM_024453094.1:c.52809dup (TTN) XP_024308862.1:p.Tyr17604IlefsTer12
XM_024453095.1:c.52806dup (TTN) XP_024308863.1:p.Tyr17603IlefsTer12
XM_024453096.1:c.52239dup (TTN) XP_024308864.1:p.Tyr17414IlefsTer12
XM_024453097.1:c.49581dup (TTN) XP_024308865.1:p.Tyr16528IlefsTer12
XM_024453098.1:c.49500dup (TTN) XP_024308866.1:p.Tyr16501IlefsTer12
XM_024453099.1:c.31263dup (TTN) XP_024308867.1:p.Tyr10422IlefsTer12
XM_024453100.1:c.21117dup (TTN) XP_024308868.1:p.Tyr7040IlefsTer12