Canonical Allele Identifier: CA349601359

Linked Data

dbSNP Id: rs2154166249

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567398G>A , CM000664.2:g.178567398G>A GRCh38
NC_000002.11:g.179432125G>A , CM000664.1:g.179432125G>A GRCh37
NC_000002.10:g.179140371G>A NCBI36
NG_011618.3:g.268405C>T , LRG_391:g.268405C>T
NG_051363.1:g.49572G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.71030C>T (TTN) ENSP00000343764.6:p.Thr23677Ile
ENST00000342175.11:c.52115C>T (TTN) ENSP00000340554.6:p.Thr17372Ile
ENST00000359218.10:c.51914C>T (TTN) ENSP00000352154.5:p.Thr17305Ile
ENST00000342175.10:c.52115C>T (TTN) ENSP00000340554.6:p.Thr17372Ile
ENST00000342992.10:c.71030C>T (TTN) ENSP00000343764.6:p.Thr23677Ile
ENST00000359218.9:c.51914C>T (TTN) ENSP00000352154.5:p.Thr17305Ile
ENST00000460472.6:c.51539C>T (TTN) ENSP00000434586.1:p.Thr17180Ile
ENST00000589042.5:c.78734C>T (TTN) MANE Select ENSP00000467141.1:p.Thr26245Ile
ENST00000591111.5:c.73811C>T (TTN) ENSP00000465570.1:p.Thr24604Ile
ENST00000615779.4:c.73811C>T (TTN) ENSP00000483597.1:p.Thr24604Ile
NM_001256850.1:c.73811C>T (TTN) NP_001243779.1:p.Thr24604Ile
NM_001267550.2:c.78734C>T (TTN) MANE Select NP_001254479.2:p.Thr26245Ile
NM_003319.4:c.51539C>T (TTN) NP_003310.4:p.Thr17180Ile
NM_133378.4:c.71030C>T (TTN) NP_596869.4:p.Thr23677Ile
NM_133432.3:c.51914C>T (TTN) NP_597676.3:p.Thr17305Ile
NM_133437.4:c.52115C>T (TTN) NP_597681.4:p.Thr17372Ile
NR_038271.1:n.447-3902G>A (TTN-AS1)
NR_038272.1:n.2044-15174G>A (TTN-AS1)
XM_011511729.1:c.77831C>T (TTN) XP_011510031.1:p.Thr25944Ile
XM_011511730.1:c.51725C>T (TTN) XP_011510032.1:p.Thr17242Ile
XM_011511731.1:c.51584C>T (TTN) XP_011510033.1:p.Thr17195Ile
XM_017004819.1:c.77627C>T (TTN) XP_016860308.1:p.Thr25876Ile
XM_017004820.1:c.73025C>T (TTN) XP_016860309.1:p.Thr24342Ile
XM_017004821.1:c.73022C>T (TTN) XP_016860310.1:p.Thr24341Ile
XM_017004822.1:c.70064C>T (TTN) XP_016860311.1:p.Thr23355Ile
XM_017004823.1:c.51680C>T (TTN) XP_016860312.1:p.Thr17227Ile
XM_024453094.1:c.73175C>T (TTN) XP_024308862.1:p.Thr24392Ile
XM_024453095.1:c.73172C>T (TTN) XP_024308863.1:p.Thr24391Ile
XM_024453096.1:c.72605C>T (TTN) XP_024308864.1:p.Thr24202Ile
XM_024453097.1:c.69947C>T (TTN) XP_024308865.1:p.Thr23316Ile
XM_024453098.1:c.69866C>T (TTN) XP_024308866.1:p.Thr23289Ile
XM_024453099.1:c.51629C>T (TTN) XP_024308867.1:p.Thr17210Ile
XM_024453100.1:c.41483C>T (TTN) XP_024308868.1:p.Thr13828Ile