Canonical Allele Identifier: CA16617367

Linked Data

ClinVar Variation Id: 424458
ClinVar RCV Id: RCV000480169
dbSNP Id: rs1064796977

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591350G>T , CM000664.2:g.178591350G>T GRCh38
NC_000002.11:g.179456077G>T , CM000664.1:g.179456077G>T GRCh37
NC_000002.10:g.179164323G>T NCBI36
NG_011618.3:g.244453C>A , LRG_391:g.244453C>A
NG_051363.1:g.73524G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52671C>A (TTN) ENSP00000343764.6:p.Tyr17557Ter
ENST00000342175.11:c.33756C>A (TTN) ENSP00000340554.6:p.Tyr11252Ter
ENST00000359218.10:c.33555C>A (TTN) ENSP00000352154.5:p.Tyr11185Ter
ENST00000342175.10:c.33756C>A (TTN) ENSP00000340554.6:p.Tyr11252Ter
ENST00000342992.10:c.52671C>A (TTN) ENSP00000343764.6:p.Tyr17557Ter
ENST00000359218.9:c.33555C>A (TTN) ENSP00000352154.5:p.Tyr11185Ter
ENST00000460472.6:c.33180C>A (TTN) ENSP00000434586.1:p.Tyr11060Ter
ENST00000589042.5:c.60375C>A (TTN) MANE Select ENSP00000467141.1:p.Tyr20125Ter
ENST00000591111.5:c.55452C>A (TTN) ENSP00000465570.1:p.Tyr18484Ter
ENST00000615779.4:c.55452C>A (TTN) ENSP00000483597.1:p.Tyr18484Ter
NM_001256850.1:c.55452C>A (TTN) NP_001243779.1:p.Tyr18484Ter
NM_001267550.2:c.60375C>A (TTN) MANE Select NP_001254479.2:p.Tyr20125Ter
NM_003319.4:c.33180C>A (TTN) NP_003310.4:p.Tyr11060Ter
NM_133378.4:c.52671C>A (TTN) NP_596869.4:p.Tyr17557Ter
NM_133432.3:c.33555C>A (TTN) NP_597676.3:p.Tyr11185Ter
NM_133437.4:c.33756C>A (TTN) NP_597681.4:p.Tyr11252Ter
NR_038271.1:n.597-6246G>T (TTN-AS1)
NR_038272.1:n.3364+36G>T (TTN-AS1)
XM_011511729.1:c.59472C>A (TTN) XP_011510031.1:p.Tyr19824Ter
XM_011511730.1:c.33366C>A (TTN) XP_011510032.1:p.Tyr11122Ter
XM_011511731.1:c.33225C>A (TTN) XP_011510033.1:p.Tyr11075Ter
XM_017004819.1:c.59268C>A (TTN) XP_016860308.1:p.Tyr19756Ter
XM_017004820.1:c.54666C>A (TTN) XP_016860309.1:p.Tyr18222Ter
XM_017004821.1:c.54663C>A (TTN) XP_016860310.1:p.Tyr18221Ter
XM_017004822.1:c.51705C>A (TTN) XP_016860311.1:p.Tyr17235Ter
XM_017004823.1:c.33321C>A (TTN) XP_016860312.1:p.Tyr11107Ter
XM_024453094.1:c.54816C>A (TTN) XP_024308862.1:p.Tyr18272Ter
XM_024453095.1:c.54813C>A (TTN) XP_024308863.1:p.Tyr18271Ter
XM_024453096.1:c.54246C>A (TTN) XP_024308864.1:p.Tyr18082Ter
XM_024453097.1:c.51588C>A (TTN) XP_024308865.1:p.Tyr17196Ter
XM_024453098.1:c.51507C>A (TTN) XP_024308866.1:p.Tyr17169Ter
XM_024453099.1:c.33270C>A (TTN) XP_024308867.1:p.Tyr11090Ter
XM_024453100.1:c.23124C>A (TTN) XP_024308868.1:p.Tyr7708Ter