Canonical Allele Identifier: CA349614308

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569418T>G , CM000664.2:g.178569418T>G GRCh38
NC_000002.11:g.179434145T>G , CM000664.1:g.179434145T>G GRCh37
NC_000002.10:g.179142391T>G NCBI36
NG_011618.3:g.266385A>C , LRG_391:g.266385A>C
NG_051363.1:g.51592T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.69010A>C (TTN) ENSP00000343764.6:p.Asn23004His
ENST00000342175.11:c.50095A>C (TTN) ENSP00000340554.6:p.Asn16699His
ENST00000359218.10:c.49894A>C (TTN) ENSP00000352154.5:p.Asn16632His
ENST00000342175.10:c.50095A>C (TTN) ENSP00000340554.6:p.Asn16699His
ENST00000342992.10:c.69010A>C (TTN) ENSP00000343764.6:p.Asn23004His
ENST00000359218.9:c.49894A>C (TTN) ENSP00000352154.5:p.Asn16632His
ENST00000460472.6:c.49519A>C (TTN) ENSP00000434586.1:p.Asn16507His
ENST00000589042.5:c.76714A>C (TTN) MANE Select ENSP00000467141.1:p.Asn25572His
ENST00000591111.5:c.71791A>C (TTN) ENSP00000465570.1:p.Asn23931His
ENST00000615779.4:c.71791A>C (TTN) ENSP00000483597.1:p.Asn23931His
NM_001256850.1:c.71791A>C (TTN) NP_001243779.1:p.Asn23931His
NM_001267550.2:c.76714A>C (TTN) MANE Select NP_001254479.2:p.Asn25572His
NM_003319.4:c.49519A>C (TTN) NP_003310.4:p.Asn16507His
NM_133378.4:c.69010A>C (TTN) NP_596869.4:p.Asn23004His
NM_133432.3:c.49894A>C (TTN) NP_597676.3:p.Asn16632His
NM_133437.4:c.50095A>C (TTN) NP_597681.4:p.Asn16699His
NR_038271.1:n.447-1882T>G (TTN-AS1)
NR_038272.1:n.2044-13154T>G (TTN-AS1)
XM_011511729.1:c.75811A>C (TTN) XP_011510031.1:p.Asn25271His
XM_011511730.1:c.49705A>C (TTN) XP_011510032.1:p.Asn16569His
XM_011511731.1:c.49564A>C (TTN) XP_011510033.1:p.Asn16522His
XM_017004819.1:c.75607A>C (TTN) XP_016860308.1:p.Asn25203His
XM_017004820.1:c.71005A>C (TTN) XP_016860309.1:p.Asn23669His
XM_017004821.1:c.71002A>C (TTN) XP_016860310.1:p.Asn23668His
XM_017004822.1:c.68044A>C (TTN) XP_016860311.1:p.Asn22682His
XM_017004823.1:c.49660A>C (TTN) XP_016860312.1:p.Asn16554His
XM_024453094.1:c.71155A>C (TTN) XP_024308862.1:p.Asn23719His
XM_024453095.1:c.71152A>C (TTN) XP_024308863.1:p.Asn23718His
XM_024453096.1:c.70585A>C (TTN) XP_024308864.1:p.Asn23529His
XM_024453097.1:c.67927A>C (TTN) XP_024308865.1:p.Asn22643His
XM_024453098.1:c.67846A>C (TTN) XP_024308866.1:p.Asn22616His
XM_024453099.1:c.49609A>C (TTN) XP_024308867.1:p.Asn16537His
XM_024453100.1:c.39463A>C (TTN) XP_024308868.1:p.Asn13155His