Canonical Allele Identifier: CA349496635

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593061A>T , CM000664.2:g.178593061A>T GRCh38
NC_000002.11:g.179457788A>T , CM000664.1:g.179457788A>T GRCh37
NC_000002.10:g.179166034A>T NCBI36
NG_011618.3:g.242742T>A , LRG_391:g.242742T>A
NG_051363.1:g.75235A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51354T>A (TTN) ENSP00000343764.6:p.Asn17118Lys
ENST00000342175.11:c.32439T>A (TTN) ENSP00000340554.6:p.Asn10813Lys
ENST00000359218.10:c.32238T>A (TTN) ENSP00000352154.5:p.Asn10746Lys
ENST00000342175.10:c.32439T>A (TTN) ENSP00000340554.6:p.Asn10813Lys
ENST00000342992.10:c.51354T>A (TTN) ENSP00000343764.6:p.Asn17118Lys
ENST00000359218.9:c.32238T>A (TTN) ENSP00000352154.5:p.Asn10746Lys
ENST00000460472.6:c.31863T>A (TTN) ENSP00000434586.1:p.Asn10621Lys
ENST00000589042.5:c.59058T>A (TTN) MANE Select ENSP00000467141.1:p.Asn19686Lys
ENST00000591111.5:c.54135T>A (TTN) ENSP00000465570.1:p.Asn18045Lys
ENST00000615779.4:c.54135T>A (TTN) ENSP00000483597.1:p.Asn18045Lys
NM_001256850.1:c.54135T>A (TTN) NP_001243779.1:p.Asn18045Lys
NM_001267550.2:c.59058T>A (TTN) MANE Select NP_001254479.2:p.Asn19686Lys
NM_003319.4:c.31863T>A (TTN) NP_003310.4:p.Asn10621Lys
NM_133378.4:c.51354T>A (TTN) NP_596869.4:p.Asn17118Lys
NM_133432.3:c.32238T>A (TTN) NP_597676.3:p.Asn10746Lys
NM_133437.4:c.32439T>A (TTN) NP_597681.4:p.Asn10813Lys
NR_038271.1:n.597-4535A>T (TTN-AS1)
NR_038272.1:n.3364+1747A>T (TTN-AS1)
XM_011511729.1:c.58155T>A (TTN) XP_011510031.1:p.Asn19385Lys
XM_011511730.1:c.32049T>A (TTN) XP_011510032.1:p.Asn10683Lys
XM_011511731.1:c.31908T>A (TTN) XP_011510033.1:p.Asn10636Lys
XM_017004819.1:c.57951T>A (TTN) XP_016860308.1:p.Asn19317Lys
XM_017004820.1:c.53349T>A (TTN) XP_016860309.1:p.Asn17783Lys
XM_017004821.1:c.53346T>A (TTN) XP_016860310.1:p.Asn17782Lys
XM_017004822.1:c.50388T>A (TTN) XP_016860311.1:p.Asn16796Lys
XM_017004823.1:c.32004T>A (TTN) XP_016860312.1:p.Asn10668Lys
XM_024453094.1:c.53499T>A (TTN) XP_024308862.1:p.Asn17833Lys
XM_024453095.1:c.53496T>A (TTN) XP_024308863.1:p.Asn17832Lys
XM_024453096.1:c.52929T>A (TTN) XP_024308864.1:p.Asn17643Lys
XM_024453097.1:c.50271T>A (TTN) XP_024308865.1:p.Asn16757Lys
XM_024453098.1:c.50190T>A (TTN) XP_024308866.1:p.Asn16730Lys
XM_024453099.1:c.31953T>A (TTN) XP_024308867.1:p.Asn10651Lys
XM_024453100.1:c.21807T>A (TTN) XP_024308868.1:p.Asn7269Lys