Canonical Allele Identifier: CA349483584

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591114A>T , CM000664.2:g.178591114A>T GRCh38
NC_000002.11:g.179455841A>T , CM000664.1:g.179455841A>T GRCh37
NC_000002.10:g.179164087A>T NCBI36
NG_011618.3:g.244689T>A , LRG_391:g.244689T>A
NG_051363.1:g.73288A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52907T>A (TTN) ENSP00000343764.6:p.Val17636Glu
ENST00000342175.11:c.33992T>A (TTN) ENSP00000340554.6:p.Val11331Glu
ENST00000359218.10:c.33791T>A (TTN) ENSP00000352154.5:p.Val11264Glu
ENST00000342175.10:c.33992T>A (TTN) ENSP00000340554.6:p.Val11331Glu
ENST00000342992.10:c.52907T>A (TTN) ENSP00000343764.6:p.Val17636Glu
ENST00000359218.9:c.33791T>A (TTN) ENSP00000352154.5:p.Val11264Glu
ENST00000460472.6:c.33416T>A (TTN) ENSP00000434586.1:p.Val11139Glu
ENST00000589042.5:c.60611T>A (TTN) MANE Select ENSP00000467141.1:p.Val20204Glu
ENST00000591111.5:c.55688T>A (TTN) ENSP00000465570.1:p.Val18563Glu
ENST00000615779.4:c.55688T>A (TTN) ENSP00000483597.1:p.Val18563Glu
NM_001256850.1:c.55688T>A (TTN) NP_001243779.1:p.Val18563Glu
NM_001267550.2:c.60611T>A (TTN) MANE Select NP_001254479.2:p.Val20204Glu
NM_003319.4:c.33416T>A (TTN) NP_003310.4:p.Val11139Glu
NM_133378.4:c.52907T>A (TTN) NP_596869.4:p.Val17636Glu
NM_133432.3:c.33791T>A (TTN) NP_597676.3:p.Val11264Glu
NM_133437.4:c.33992T>A (TTN) NP_597681.4:p.Val11331Glu
NR_038271.1:n.597-6482A>T (TTN-AS1)
NR_038272.1:n.3189-25A>T (TTN-AS1)
XM_011511729.1:c.59708T>A (TTN) XP_011510031.1:p.Val19903Glu
XM_011511730.1:c.33602T>A (TTN) XP_011510032.1:p.Val11201Glu
XM_011511731.1:c.33461T>A (TTN) XP_011510033.1:p.Val11154Glu
XM_017004819.1:c.59504T>A (TTN) XP_016860308.1:p.Val19835Glu
XM_017004820.1:c.54902T>A (TTN) XP_016860309.1:p.Val18301Glu
XM_017004821.1:c.54899T>A (TTN) XP_016860310.1:p.Val18300Glu
XM_017004822.1:c.51941T>A (TTN) XP_016860311.1:p.Val17314Glu
XM_017004823.1:c.33557T>A (TTN) XP_016860312.1:p.Val11186Glu
XM_024453094.1:c.55052T>A (TTN) XP_024308862.1:p.Val18351Glu
XM_024453095.1:c.55049T>A (TTN) XP_024308863.1:p.Val18350Glu
XM_024453096.1:c.54482T>A (TTN) XP_024308864.1:p.Val18161Glu
XM_024453097.1:c.51824T>A (TTN) XP_024308865.1:p.Val17275Glu
XM_024453098.1:c.51743T>A (TTN) XP_024308866.1:p.Val17248Glu
XM_024453099.1:c.33506T>A (TTN) XP_024308867.1:p.Val11169Glu
XM_024453100.1:c.23360T>A (TTN) XP_024308868.1:p.Val7787Glu