Canonical Allele Identifier: CA349480017

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591011C>A , CM000664.2:g.178591011C>A GRCh38
NC_000002.11:g.179455738C>A , CM000664.1:g.179455738C>A GRCh37
NC_000002.10:g.179163984C>A NCBI36
NG_011618.3:g.244792G>T , LRG_391:g.244792G>T
NG_051363.1:g.73185C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.53010G>T (TTN) ENSP00000343764.6:p.Lys17670Asn
ENST00000342175.11:c.34095G>T (TTN) ENSP00000340554.6:p.Lys11365Asn
ENST00000359218.10:c.33894G>T (TTN) ENSP00000352154.5:p.Lys11298Asn
ENST00000342175.10:c.34095G>T (TTN) ENSP00000340554.6:p.Lys11365Asn
ENST00000342992.10:c.53010G>T (TTN) ENSP00000343764.6:p.Lys17670Asn
ENST00000359218.9:c.33894G>T (TTN) ENSP00000352154.5:p.Lys11298Asn
ENST00000460472.6:c.33519G>T (TTN) ENSP00000434586.1:p.Lys11173Asn
ENST00000589042.5:c.60714G>T (TTN) MANE Select ENSP00000467141.1:p.Lys20238Asn
ENST00000591111.5:c.55791G>T (TTN) ENSP00000465570.1:p.Lys18597Asn
ENST00000615779.4:c.55791G>T (TTN) ENSP00000483597.1:p.Lys18597Asn
NM_001256850.1:c.55791G>T (TTN) NP_001243779.1:p.Lys18597Asn
NM_001267550.2:c.60714G>T (TTN) MANE Select NP_001254479.2:p.Lys20238Asn
NM_003319.4:c.33519G>T (TTN) NP_003310.4:p.Lys11173Asn
NM_133378.4:c.53010G>T (TTN) NP_596869.4:p.Lys17670Asn
NM_133432.3:c.33894G>T (TTN) NP_597676.3:p.Lys11298Asn
NM_133437.4:c.34095G>T (TTN) NP_597681.4:p.Lys11365Asn
NR_038271.1:n.597-6585C>A (TTN-AS1)
NR_038272.1:n.3189-128C>A (TTN-AS1)
XM_011511729.1:c.59811G>T (TTN) XP_011510031.1:p.Lys19937Asn
XM_011511730.1:c.33705G>T (TTN) XP_011510032.1:p.Lys11235Asn
XM_011511731.1:c.33564G>T (TTN) XP_011510033.1:p.Lys11188Asn
XM_017004819.1:c.59607G>T (TTN) XP_016860308.1:p.Lys19869Asn
XM_017004820.1:c.55005G>T (TTN) XP_016860309.1:p.Lys18335Asn
XM_017004821.1:c.55002G>T (TTN) XP_016860310.1:p.Lys18334Asn
XM_017004822.1:c.52044G>T (TTN) XP_016860311.1:p.Lys17348Asn
XM_017004823.1:c.33660G>T (TTN) XP_016860312.1:p.Lys11220Asn
XM_024453094.1:c.55155G>T (TTN) XP_024308862.1:p.Lys18385Asn
XM_024453095.1:c.55152G>T (TTN) XP_024308863.1:p.Lys18384Asn
XM_024453096.1:c.54585G>T (TTN) XP_024308864.1:p.Lys18195Asn
XM_024453097.1:c.51927G>T (TTN) XP_024308865.1:p.Lys17309Asn
XM_024453098.1:c.51846G>T (TTN) XP_024308866.1:p.Lys17282Asn
XM_024453099.1:c.33609G>T (TTN) XP_024308867.1:p.Lys11203Asn
XM_024453100.1:c.23463G>T (TTN) XP_024308868.1:p.Lys7821Asn