Canonical Allele Identifier: CA349457338

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544420C>A , CM000664.2:g.178544420C>A GRCh38
NC_000002.11:g.179409147C>A , CM000664.1:g.179409147C>A GRCh37
NC_000002.10:g.179117393C>A NCBI36
NG_011618.3:g.291383G>T , LRG_391:g.291383G>T
NG_051363.1:g.26594C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88105G>T (TTN) ENSP00000343764.6:p.Gly29369Cys
ENST00000342175.11:c.69190G>T (TTN) ENSP00000340554.6:p.Gly23064Cys
ENST00000359218.10:c.68989G>T (TTN) ENSP00000352154.5:p.Gly22997Cys
ENST00000342175.10:c.69190G>T (TTN) ENSP00000340554.6:p.Gly23064Cys
ENST00000342992.10:c.88105G>T (TTN) ENSP00000343764.6:p.Gly29369Cys
ENST00000359218.9:c.68989G>T (TTN) ENSP00000352154.5:p.Gly22997Cys
ENST00000460472.6:c.68614G>T (TTN) ENSP00000434586.1:p.Gly22872Cys
ENST00000589042.5:c.95809G>T (TTN) MANE Select ENSP00000467141.1:p.Gly31937Cys
ENST00000591111.5:c.90886G>T (TTN) ENSP00000465570.1:p.Gly30296Cys
ENST00000615779.4:c.90886G>T (TTN) ENSP00000483597.1:p.Gly30296Cys
NM_001256850.1:c.90886G>T (TTN) NP_001243779.1:p.Gly30296Cys
NM_001267550.2:c.95809G>T (TTN) MANE Select NP_001254479.2:p.Gly31937Cys
NM_003319.4:c.68614G>T (TTN) NP_003310.4:p.Gly22872Cys
NM_133378.4:c.88105G>T (TTN) NP_596869.4:p.Gly29369Cys
NM_133432.3:c.68989G>T (TTN) NP_597676.3:p.Gly22997Cys
NM_133437.4:c.69190G>T (TTN) NP_597681.4:p.Gly23064Cys
NR_038271.1:n.446+20784C>A (TTN-AS1)
NR_038272.1:n.2043+2059C>A (TTN-AS1)
XM_011511729.1:c.94906G>T (TTN) XP_011510031.1:p.Gly31636Cys
XM_011511730.1:c.68800G>T (TTN) XP_011510032.1:p.Gly22934Cys
XM_011511731.1:c.68659G>T (TTN) XP_011510033.1:p.Gly22887Cys
XM_017004819.1:c.94702G>T (TTN) XP_016860308.1:p.Gly31568Cys
XM_017004820.1:c.90100G>T (TTN) XP_016860309.1:p.Gly30034Cys
XM_017004821.1:c.90097G>T (TTN) XP_016860310.1:p.Gly30033Cys
XM_017004822.1:c.87139G>T (TTN) XP_016860311.1:p.Gly29047Cys
XM_017004823.1:c.68755G>T (TTN) XP_016860312.1:p.Gly22919Cys
XM_024453094.1:c.90250G>T (TTN) XP_024308862.1:p.Gly30084Cys
XM_024453095.1:c.90247G>T (TTN) XP_024308863.1:p.Gly30083Cys
XM_024453096.1:c.89680G>T (TTN) XP_024308864.1:p.Gly29894Cys
XM_024453097.1:c.87022G>T (TTN) XP_024308865.1:p.Gly29008Cys
XM_024453098.1:c.86941G>T (TTN) XP_024308866.1:p.Gly28981Cys
XM_024453099.1:c.68704G>T (TTN) XP_024308867.1:p.Gly22902Cys
XM_024453100.1:c.58558G>T (TTN) XP_024308868.1:p.Gly19520Cys