Canonical Allele Identifier: CA349483636

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591126C>T , CM000664.2:g.178591126C>T GRCh38
NC_000002.11:g.179455853C>T , CM000664.1:g.179455853C>T GRCh37
NC_000002.10:g.179164099C>T NCBI36
NG_011618.3:g.244677G>A , LRG_391:g.244677G>A
NG_051363.1:g.73300C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52895G>A (TTN) ENSP00000343764.6:p.Gly17632Glu
ENST00000342175.11:c.33980G>A (TTN) ENSP00000340554.6:p.Gly11327Glu
ENST00000359218.10:c.33779G>A (TTN) ENSP00000352154.5:p.Gly11260Glu
ENST00000342175.10:c.33980G>A (TTN) ENSP00000340554.6:p.Gly11327Glu
ENST00000342992.10:c.52895G>A (TTN) ENSP00000343764.6:p.Gly17632Glu
ENST00000359218.9:c.33779G>A (TTN) ENSP00000352154.5:p.Gly11260Glu
ENST00000460472.6:c.33404G>A (TTN) ENSP00000434586.1:p.Gly11135Glu
ENST00000589042.5:c.60599G>A (TTN) MANE Select ENSP00000467141.1:p.Gly20200Glu
ENST00000591111.5:c.55676G>A (TTN) ENSP00000465570.1:p.Gly18559Glu
ENST00000615779.4:c.55676G>A (TTN) ENSP00000483597.1:p.Gly18559Glu
NM_001256850.1:c.55676G>A (TTN) NP_001243779.1:p.Gly18559Glu
NM_001267550.2:c.60599G>A (TTN) MANE Select NP_001254479.2:p.Gly20200Glu
NM_003319.4:c.33404G>A (TTN) NP_003310.4:p.Gly11135Glu
NM_133378.4:c.52895G>A (TTN) NP_596869.4:p.Gly17632Glu
NM_133432.3:c.33779G>A (TTN) NP_597676.3:p.Gly11260Glu
NM_133437.4:c.33980G>A (TTN) NP_597681.4:p.Gly11327Glu
NR_038271.1:n.597-6470C>T (TTN-AS1)
NR_038272.1:n.3189-13C>T (TTN-AS1)
XM_011511729.1:c.59696G>A (TTN) XP_011510031.1:p.Gly19899Glu
XM_011511730.1:c.33590G>A (TTN) XP_011510032.1:p.Gly11197Glu
XM_011511731.1:c.33449G>A (TTN) XP_011510033.1:p.Gly11150Glu
XM_017004819.1:c.59492G>A (TTN) XP_016860308.1:p.Gly19831Glu
XM_017004820.1:c.54890G>A (TTN) XP_016860309.1:p.Gly18297Glu
XM_017004821.1:c.54887G>A (TTN) XP_016860310.1:p.Gly18296Glu
XM_017004822.1:c.51929G>A (TTN) XP_016860311.1:p.Gly17310Glu
XM_017004823.1:c.33545G>A (TTN) XP_016860312.1:p.Gly11182Glu
XM_024453094.1:c.55040G>A (TTN) XP_024308862.1:p.Gly18347Glu
XM_024453095.1:c.55037G>A (TTN) XP_024308863.1:p.Gly18346Glu
XM_024453096.1:c.54470G>A (TTN) XP_024308864.1:p.Gly18157Glu
XM_024453097.1:c.51812G>A (TTN) XP_024308865.1:p.Gly17271Glu
XM_024453098.1:c.51731G>A (TTN) XP_024308866.1:p.Gly17244Glu
XM_024453099.1:c.33494G>A (TTN) XP_024308867.1:p.Gly11165Glu
XM_024453100.1:c.23348G>A (TTN) XP_024308868.1:p.Gly7783Glu