Canonical Allele Identifier: CA349495545

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549770G>T , CM000664.2:g.178549770G>T GRCh38
NC_000002.11:g.179414497G>T , CM000664.1:g.179414497G>T GRCh37
NC_000002.10:g.179122743G>T NCBI36
NG_011618.3:g.286033C>A , LRG_391:g.286033C>A
NG_051363.1:g.31944G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.84248C>A (TTN) ENSP00000343764.6:p.Pro28083His
ENST00000342175.11:c.65333C>A (TTN) ENSP00000340554.6:p.Pro21778His
ENST00000359218.10:c.65132C>A (TTN) ENSP00000352154.5:p.Pro21711His
ENST00000342175.10:c.65333C>A (TTN) ENSP00000340554.6:p.Pro21778His
ENST00000342992.10:c.84248C>A (TTN) ENSP00000343764.6:p.Pro28083His
ENST00000359218.9:c.65132C>A (TTN) ENSP00000352154.5:p.Pro21711His
ENST00000460472.6:c.64757C>A (TTN) ENSP00000434586.1:p.Pro21586His
ENST00000589042.5:c.91952C>A (TTN) MANE Select ENSP00000467141.1:p.Pro30651His
ENST00000591111.5:c.87029C>A (TTN) ENSP00000465570.1:p.Pro29010His
ENST00000615779.4:c.87029C>A (TTN) ENSP00000483597.1:p.Pro29010His
NM_001256850.1:c.87029C>A (TTN) NP_001243779.1:p.Pro29010His
NM_001267550.2:c.91952C>A (TTN) MANE Select NP_001254479.2:p.Pro30651His
NM_003319.4:c.64757C>A (TTN) NP_003310.4:p.Pro21586His
NM_133378.4:c.84248C>A (TTN) NP_596869.4:p.Pro28083His
NM_133432.3:c.65132C>A (TTN) NP_597676.3:p.Pro21711His
NM_133437.4:c.65333C>A (TTN) NP_597681.4:p.Pro21778His
NR_038271.1:n.447-21530G>T (TTN-AS1)
NR_038272.1:n.2043+7409G>T (TTN-AS1)
XM_011511729.1:c.91049C>A (TTN) XP_011510031.1:p.Pro30350His
XM_011511730.1:c.64943C>A (TTN) XP_011510032.1:p.Pro21648His
XM_011511731.1:c.64802C>A (TTN) XP_011510033.1:p.Pro21601His
XM_017004819.1:c.90845C>A (TTN) XP_016860308.1:p.Pro30282His
XM_017004820.1:c.86243C>A (TTN) XP_016860309.1:p.Pro28748His
XM_017004821.1:c.86240C>A (TTN) XP_016860310.1:p.Pro28747His
XM_017004822.1:c.83282C>A (TTN) XP_016860311.1:p.Pro27761His
XM_017004823.1:c.64898C>A (TTN) XP_016860312.1:p.Pro21633His
XM_024453094.1:c.86393C>A (TTN) XP_024308862.1:p.Pro28798His
XM_024453095.1:c.86390C>A (TTN) XP_024308863.1:p.Pro28797His
XM_024453096.1:c.85823C>A (TTN) XP_024308864.1:p.Pro28608His
XM_024453097.1:c.83165C>A (TTN) XP_024308865.1:p.Pro27722His
XM_024453098.1:c.83084C>A (TTN) XP_024308866.1:p.Pro27695His
XM_024453099.1:c.64847C>A (TTN) XP_024308867.1:p.Pro21616His
XM_024453100.1:c.54701C>A (TTN) XP_024308868.1:p.Pro18234His