Canonical Allele Identifier: CA349483511

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591107A>T , CM000664.2:g.178591107A>T GRCh38
NC_000002.11:g.179455834A>T , CM000664.1:g.179455834A>T GRCh37
NC_000002.10:g.179164080A>T NCBI36
NG_011618.3:g.244696T>A , LRG_391:g.244696T>A
NG_051363.1:g.73281A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52914T>A (TTN) ENSP00000343764.6:p.Asn17638Lys
ENST00000342175.11:c.33999T>A (TTN) ENSP00000340554.6:p.Asn11333Lys
ENST00000359218.10:c.33798T>A (TTN) ENSP00000352154.5:p.Asn11266Lys
ENST00000342175.10:c.33999T>A (TTN) ENSP00000340554.6:p.Asn11333Lys
ENST00000342992.10:c.52914T>A (TTN) ENSP00000343764.6:p.Asn17638Lys
ENST00000359218.9:c.33798T>A (TTN) ENSP00000352154.5:p.Asn11266Lys
ENST00000460472.6:c.33423T>A (TTN) ENSP00000434586.1:p.Asn11141Lys
ENST00000589042.5:c.60618T>A (TTN) MANE Select ENSP00000467141.1:p.Asn20206Lys
ENST00000591111.5:c.55695T>A (TTN) ENSP00000465570.1:p.Asn18565Lys
ENST00000615779.4:c.55695T>A (TTN) ENSP00000483597.1:p.Asn18565Lys
NM_001256850.1:c.55695T>A (TTN) NP_001243779.1:p.Asn18565Lys
NM_001267550.2:c.60618T>A (TTN) MANE Select NP_001254479.2:p.Asn20206Lys
NM_003319.4:c.33423T>A (TTN) NP_003310.4:p.Asn11141Lys
NM_133378.4:c.52914T>A (TTN) NP_596869.4:p.Asn17638Lys
NM_133432.3:c.33798T>A (TTN) NP_597676.3:p.Asn11266Lys
NM_133437.4:c.33999T>A (TTN) NP_597681.4:p.Asn11333Lys
NR_038271.1:n.597-6489A>T (TTN-AS1)
NR_038272.1:n.3189-32A>T (TTN-AS1)
XM_011511729.1:c.59715T>A (TTN) XP_011510031.1:p.Asn19905Lys
XM_011511730.1:c.33609T>A (TTN) XP_011510032.1:p.Asn11203Lys
XM_011511731.1:c.33468T>A (TTN) XP_011510033.1:p.Asn11156Lys
XM_017004819.1:c.59511T>A (TTN) XP_016860308.1:p.Asn19837Lys
XM_017004820.1:c.54909T>A (TTN) XP_016860309.1:p.Asn18303Lys
XM_017004821.1:c.54906T>A (TTN) XP_016860310.1:p.Asn18302Lys
XM_017004822.1:c.51948T>A (TTN) XP_016860311.1:p.Asn17316Lys
XM_017004823.1:c.33564T>A (TTN) XP_016860312.1:p.Asn11188Lys
XM_024453094.1:c.55059T>A (TTN) XP_024308862.1:p.Asn18353Lys
XM_024453095.1:c.55056T>A (TTN) XP_024308863.1:p.Asn18352Lys
XM_024453096.1:c.54489T>A (TTN) XP_024308864.1:p.Asn18163Lys
XM_024453097.1:c.51831T>A (TTN) XP_024308865.1:p.Asn17277Lys
XM_024453098.1:c.51750T>A (TTN) XP_024308866.1:p.Asn17250Lys
XM_024453099.1:c.33513T>A (TTN) XP_024308867.1:p.Asn11171Lys
XM_024453100.1:c.23367T>A (TTN) XP_024308868.1:p.Asn7789Lys