Canonical Allele Identifier: CA349611426

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568842C>T , CM000664.2:g.178568842C>T GRCh38
NC_000002.11:g.179433569C>T , CM000664.1:g.179433569C>T GRCh37
NC_000002.10:g.179141815C>T NCBI36
NG_011618.3:g.266961G>A , LRG_391:g.266961G>A
NG_051363.1:g.51016C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.69586G>A (TTN) ENSP00000343764.6:p.Gly23196Arg
ENST00000342175.11:c.50671G>A (TTN) ENSP00000340554.6:p.Gly16891Arg
ENST00000359218.10:c.50470G>A (TTN) ENSP00000352154.5:p.Gly16824Arg
ENST00000342175.10:c.50671G>A (TTN) ENSP00000340554.6:p.Gly16891Arg
ENST00000342992.10:c.69586G>A (TTN) ENSP00000343764.6:p.Gly23196Arg
ENST00000359218.9:c.50470G>A (TTN) ENSP00000352154.5:p.Gly16824Arg
ENST00000460472.6:c.50095G>A (TTN) ENSP00000434586.1:p.Gly16699Arg
ENST00000589042.5:c.77290G>A (TTN) MANE Select ENSP00000467141.1:p.Gly25764Arg
ENST00000591111.5:c.72367G>A (TTN) ENSP00000465570.1:p.Gly24123Arg
ENST00000615779.4:c.72367G>A (TTN) ENSP00000483597.1:p.Gly24123Arg
NM_001256850.1:c.72367G>A (TTN) NP_001243779.1:p.Gly24123Arg
NM_001267550.2:c.77290G>A (TTN) MANE Select NP_001254479.2:p.Gly25764Arg
NM_003319.4:c.50095G>A (TTN) NP_003310.4:p.Gly16699Arg
NM_133378.4:c.69586G>A (TTN) NP_596869.4:p.Gly23196Arg
NM_133432.3:c.50470G>A (TTN) NP_597676.3:p.Gly16824Arg
NM_133437.4:c.50671G>A (TTN) NP_597681.4:p.Gly16891Arg
NR_038271.1:n.447-2458C>T (TTN-AS1)
NR_038272.1:n.2044-13730C>T (TTN-AS1)
XM_011511729.1:c.76387G>A (TTN) XP_011510031.1:p.Gly25463Arg
XM_011511730.1:c.50281G>A (TTN) XP_011510032.1:p.Gly16761Arg
XM_011511731.1:c.50140G>A (TTN) XP_011510033.1:p.Gly16714Arg
XM_017004819.1:c.76183G>A (TTN) XP_016860308.1:p.Gly25395Arg
XM_017004820.1:c.71581G>A (TTN) XP_016860309.1:p.Gly23861Arg
XM_017004821.1:c.71578G>A (TTN) XP_016860310.1:p.Gly23860Arg
XM_017004822.1:c.68620G>A (TTN) XP_016860311.1:p.Gly22874Arg
XM_017004823.1:c.50236G>A (TTN) XP_016860312.1:p.Gly16746Arg
XM_024453094.1:c.71731G>A (TTN) XP_024308862.1:p.Gly23911Arg
XM_024453095.1:c.71728G>A (TTN) XP_024308863.1:p.Gly23910Arg
XM_024453096.1:c.71161G>A (TTN) XP_024308864.1:p.Gly23721Arg
XM_024453097.1:c.68503G>A (TTN) XP_024308865.1:p.Gly22835Arg
XM_024453098.1:c.68422G>A (TTN) XP_024308866.1:p.Gly22808Arg
XM_024453099.1:c.50185G>A (TTN) XP_024308867.1:p.Gly16729Arg
XM_024453100.1:c.40039G>A (TTN) XP_024308868.1:p.Gly13347Arg