Canonical Allele Identifier: CA349457113

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544401C>T , CM000664.2:g.178544401C>T GRCh38
NC_000002.11:g.179409128C>T , CM000664.1:g.179409128C>T GRCh37
NC_000002.10:g.179117374C>T NCBI36
NG_011618.3:g.291402G>A , LRG_391:g.291402G>A
NG_051363.1:g.26575C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88124G>A (TTN) ENSP00000343764.6:p.Gly29375Glu
ENST00000342175.11:c.69209G>A (TTN) ENSP00000340554.6:p.Gly23070Glu
ENST00000359218.10:c.69008G>A (TTN) ENSP00000352154.5:p.Gly23003Glu
ENST00000342175.10:c.69209G>A (TTN) ENSP00000340554.6:p.Gly23070Glu
ENST00000342992.10:c.88124G>A (TTN) ENSP00000343764.6:p.Gly29375Glu
ENST00000359218.9:c.69008G>A (TTN) ENSP00000352154.5:p.Gly23003Glu
ENST00000460472.6:c.68633G>A (TTN) ENSP00000434586.1:p.Gly22878Glu
ENST00000589042.5:c.95828G>A (TTN) MANE Select ENSP00000467141.1:p.Gly31943Glu
ENST00000591111.5:c.90905G>A (TTN) ENSP00000465570.1:p.Gly30302Glu
ENST00000615779.4:c.90905G>A (TTN) ENSP00000483597.1:p.Gly30302Glu
NM_001256850.1:c.90905G>A (TTN) NP_001243779.1:p.Gly30302Glu
NM_001267550.2:c.95828G>A (TTN) MANE Select NP_001254479.2:p.Gly31943Glu
NM_003319.4:c.68633G>A (TTN) NP_003310.4:p.Gly22878Glu
NM_133378.4:c.88124G>A (TTN) NP_596869.4:p.Gly29375Glu
NM_133432.3:c.69008G>A (TTN) NP_597676.3:p.Gly23003Glu
NM_133437.4:c.69209G>A (TTN) NP_597681.4:p.Gly23070Glu
NR_038271.1:n.446+20765C>T (TTN-AS1)
NR_038272.1:n.2043+2040C>T (TTN-AS1)
XM_011511729.1:c.94925G>A (TTN) XP_011510031.1:p.Gly31642Glu
XM_011511730.1:c.68819G>A (TTN) XP_011510032.1:p.Gly22940Glu
XM_011511731.1:c.68678G>A (TTN) XP_011510033.1:p.Gly22893Glu
XM_017004819.1:c.94721G>A (TTN) XP_016860308.1:p.Gly31574Glu
XM_017004820.1:c.90119G>A (TTN) XP_016860309.1:p.Gly30040Glu
XM_017004821.1:c.90116G>A (TTN) XP_016860310.1:p.Gly30039Glu
XM_017004822.1:c.87158G>A (TTN) XP_016860311.1:p.Gly29053Glu
XM_017004823.1:c.68774G>A (TTN) XP_016860312.1:p.Gly22925Glu
XM_024453094.1:c.90269G>A (TTN) XP_024308862.1:p.Gly30090Glu
XM_024453095.1:c.90266G>A (TTN) XP_024308863.1:p.Gly30089Glu
XM_024453096.1:c.89699G>A (TTN) XP_024308864.1:p.Gly29900Glu
XM_024453097.1:c.87041G>A (TTN) XP_024308865.1:p.Gly29014Glu
XM_024453098.1:c.86960G>A (TTN) XP_024308866.1:p.Gly28987Glu
XM_024453099.1:c.68723G>A (TTN) XP_024308867.1:p.Gly22908Glu
XM_024453100.1:c.58577G>A (TTN) XP_024308868.1:p.Gly19526Glu