Canonical Allele Identifier: CA349427116

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537171T>A , CM000664.2:g.178537171T>A GRCh38
NC_000002.11:g.179401898T>A , CM000664.1:g.179401898T>A GRCh37
NC_000002.10:g.179110144T>A NCBI36
NG_011618.3:g.298632A>T , LRG_391:g.298632A>T
NG_051363.1:g.19345T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.92234A>T (TTN) ENSP00000343764.6:p.Lys30745Ile
ENST00000342175.11:c.73319A>T (TTN) ENSP00000340554.6:p.Lys24440Ile
ENST00000359218.10:c.73118A>T (TTN) ENSP00000352154.5:p.Lys24373Ile
ENST00000342175.10:c.73319A>T (TTN) ENSP00000340554.6:p.Lys24440Ile
ENST00000342992.10:c.92234A>T (TTN) ENSP00000343764.6:p.Lys30745Ile
ENST00000359218.9:c.73118A>T (TTN) ENSP00000352154.5:p.Lys24373Ile
ENST00000460472.6:c.72743A>T (TTN) ENSP00000434586.1:p.Lys24248Ile
ENST00000589042.5:c.99938A>T (TTN) MANE Select ENSP00000467141.1:p.Lys33313Ile
ENST00000591111.5:c.95015A>T (TTN) ENSP00000465570.1:p.Lys31672Ile
ENST00000615779.4:c.95015A>T (TTN) ENSP00000483597.1:p.Lys31672Ile
NM_001256850.1:c.95015A>T (TTN) NP_001243779.1:p.Lys31672Ile
NM_001267550.2:c.99938A>T (TTN) MANE Select NP_001254479.2:p.Lys33313Ile
NM_003319.4:c.72743A>T (TTN) NP_003310.4:p.Lys24248Ile
NM_133378.4:c.92234A>T (TTN) NP_596869.4:p.Lys30745Ile
NM_133432.3:c.73118A>T (TTN) NP_597676.3:p.Lys24373Ile
NM_133437.4:c.73319A>T (TTN) NP_597681.4:p.Lys24440Ile
NR_038271.1:n.446+13535T>A (TTN-AS1)
NR_038272.1:n.317-190T>A (TTN-AS1)
XM_011511729.1:c.99035A>T (TTN) XP_011510031.1:p.Lys33012Ile
XM_011511730.1:c.72929A>T (TTN) XP_011510032.1:p.Lys24310Ile
XM_011511731.1:c.72788A>T (TTN) XP_011510033.1:p.Lys24263Ile
XM_017004819.1:c.98831A>T (TTN) XP_016860308.1:p.Lys32944Ile
XM_017004820.1:c.94229A>T (TTN) XP_016860309.1:p.Lys31410Ile
XM_017004821.1:c.94226A>T (TTN) XP_016860310.1:p.Lys31409Ile
XM_017004822.1:c.91268A>T (TTN) XP_016860311.1:p.Lys30423Ile
XM_017004823.1:c.72884A>T (TTN) XP_016860312.1:p.Lys24295Ile
XM_024453094.1:c.94379A>T (TTN) XP_024308862.1:p.Lys31460Ile
XM_024453095.1:c.94376A>T (TTN) XP_024308863.1:p.Lys31459Ile
XM_024453096.1:c.93809A>T (TTN) XP_024308864.1:p.Lys31270Ile
XM_024453097.1:c.91151A>T (TTN) XP_024308865.1:p.Lys30384Ile
XM_024453098.1:c.91070A>T (TTN) XP_024308866.1:p.Lys30357Ile
XM_024453099.1:c.72833A>T (TTN) XP_024308867.1:p.Lys24278Ile
XM_024453100.1:c.62687A>T (TTN) XP_024308868.1:p.Lys20896Ile