Canonical Allele Identifier: CA349614333

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569424T>G , CM000664.2:g.178569424T>G GRCh38
NC_000002.11:g.179434151T>G , CM000664.1:g.179434151T>G GRCh37
NC_000002.10:g.179142397T>G NCBI36
NG_011618.3:g.266379A>C , LRG_391:g.266379A>C
NG_051363.1:g.51598T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.69004A>C (TTN) ENSP00000343764.6:p.Asn23002His
ENST00000342175.11:c.50089A>C (TTN) ENSP00000340554.6:p.Asn16697His
ENST00000359218.10:c.49888A>C (TTN) ENSP00000352154.5:p.Asn16630His
ENST00000342175.10:c.50089A>C (TTN) ENSP00000340554.6:p.Asn16697His
ENST00000342992.10:c.69004A>C (TTN) ENSP00000343764.6:p.Asn23002His
ENST00000359218.9:c.49888A>C (TTN) ENSP00000352154.5:p.Asn16630His
ENST00000460472.6:c.49513A>C (TTN) ENSP00000434586.1:p.Asn16505His
ENST00000589042.5:c.76708A>C (TTN) MANE Select ENSP00000467141.1:p.Asn25570His
ENST00000591111.5:c.71785A>C (TTN) ENSP00000465570.1:p.Asn23929His
ENST00000615779.4:c.71785A>C (TTN) ENSP00000483597.1:p.Asn23929His
NM_001256850.1:c.71785A>C (TTN) NP_001243779.1:p.Asn23929His
NM_001267550.2:c.76708A>C (TTN) MANE Select NP_001254479.2:p.Asn25570His
NM_003319.4:c.49513A>C (TTN) NP_003310.4:p.Asn16505His
NM_133378.4:c.69004A>C (TTN) NP_596869.4:p.Asn23002His
NM_133432.3:c.49888A>C (TTN) NP_597676.3:p.Asn16630His
NM_133437.4:c.50089A>C (TTN) NP_597681.4:p.Asn16697His
NR_038271.1:n.447-1876T>G (TTN-AS1)
NR_038272.1:n.2044-13148T>G (TTN-AS1)
XM_011511729.1:c.75805A>C (TTN) XP_011510031.1:p.Asn25269His
XM_011511730.1:c.49699A>C (TTN) XP_011510032.1:p.Asn16567His
XM_011511731.1:c.49558A>C (TTN) XP_011510033.1:p.Asn16520His
XM_017004819.1:c.75601A>C (TTN) XP_016860308.1:p.Asn25201His
XM_017004820.1:c.70999A>C (TTN) XP_016860309.1:p.Asn23667His
XM_017004821.1:c.70996A>C (TTN) XP_016860310.1:p.Asn23666His
XM_017004822.1:c.68038A>C (TTN) XP_016860311.1:p.Asn22680His
XM_017004823.1:c.49654A>C (TTN) XP_016860312.1:p.Asn16552His
XM_024453094.1:c.71149A>C (TTN) XP_024308862.1:p.Asn23717His
XM_024453095.1:c.71146A>C (TTN) XP_024308863.1:p.Asn23716His
XM_024453096.1:c.70579A>C (TTN) XP_024308864.1:p.Asn23527His
XM_024453097.1:c.67921A>C (TTN) XP_024308865.1:p.Asn22641His
XM_024453098.1:c.67840A>C (TTN) XP_024308866.1:p.Asn22614His
XM_024453099.1:c.49603A>C (TTN) XP_024308867.1:p.Asn16535His
XM_024453100.1:c.39457A>C (TTN) XP_024308868.1:p.Asn13153His