Canonical Allele Identifier: CA349457332

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544419C>G , CM000664.2:g.178544419C>G GRCh38
NC_000002.11:g.179409146C>G , CM000664.1:g.179409146C>G GRCh37
NC_000002.10:g.179117392C>G NCBI36
NG_011618.3:g.291384G>C , LRG_391:g.291384G>C
NG_051363.1:g.26593C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88106G>C (TTN) ENSP00000343764.6:p.Gly29369Ala
ENST00000342175.11:c.69191G>C (TTN) ENSP00000340554.6:p.Gly23064Ala
ENST00000359218.10:c.68990G>C (TTN) ENSP00000352154.5:p.Gly22997Ala
ENST00000342175.10:c.69191G>C (TTN) ENSP00000340554.6:p.Gly23064Ala
ENST00000342992.10:c.88106G>C (TTN) ENSP00000343764.6:p.Gly29369Ala
ENST00000359218.9:c.68990G>C (TTN) ENSP00000352154.5:p.Gly22997Ala
ENST00000460472.6:c.68615G>C (TTN) ENSP00000434586.1:p.Gly22872Ala
ENST00000589042.5:c.95810G>C (TTN) MANE Select ENSP00000467141.1:p.Gly31937Ala
ENST00000591111.5:c.90887G>C (TTN) ENSP00000465570.1:p.Gly30296Ala
ENST00000615779.4:c.90887G>C (TTN) ENSP00000483597.1:p.Gly30296Ala
NM_001256850.1:c.90887G>C (TTN) NP_001243779.1:p.Gly30296Ala
NM_001267550.2:c.95810G>C (TTN) MANE Select NP_001254479.2:p.Gly31937Ala
NM_003319.4:c.68615G>C (TTN) NP_003310.4:p.Gly22872Ala
NM_133378.4:c.88106G>C (TTN) NP_596869.4:p.Gly29369Ala
NM_133432.3:c.68990G>C (TTN) NP_597676.3:p.Gly22997Ala
NM_133437.4:c.69191G>C (TTN) NP_597681.4:p.Gly23064Ala
NR_038271.1:n.446+20783C>G (TTN-AS1)
NR_038272.1:n.2043+2058C>G (TTN-AS1)
XM_011511729.1:c.94907G>C (TTN) XP_011510031.1:p.Gly31636Ala
XM_011511730.1:c.68801G>C (TTN) XP_011510032.1:p.Gly22934Ala
XM_011511731.1:c.68660G>C (TTN) XP_011510033.1:p.Gly22887Ala
XM_017004819.1:c.94703G>C (TTN) XP_016860308.1:p.Gly31568Ala
XM_017004820.1:c.90101G>C (TTN) XP_016860309.1:p.Gly30034Ala
XM_017004821.1:c.90098G>C (TTN) XP_016860310.1:p.Gly30033Ala
XM_017004822.1:c.87140G>C (TTN) XP_016860311.1:p.Gly29047Ala
XM_017004823.1:c.68756G>C (TTN) XP_016860312.1:p.Gly22919Ala
XM_024453094.1:c.90251G>C (TTN) XP_024308862.1:p.Gly30084Ala
XM_024453095.1:c.90248G>C (TTN) XP_024308863.1:p.Gly30083Ala
XM_024453096.1:c.89681G>C (TTN) XP_024308864.1:p.Gly29894Ala
XM_024453097.1:c.87023G>C (TTN) XP_024308865.1:p.Gly29008Ala
XM_024453098.1:c.86942G>C (TTN) XP_024308866.1:p.Gly28981Ala
XM_024453099.1:c.68705G>C (TTN) XP_024308867.1:p.Gly22902Ala
XM_024453100.1:c.58559G>C (TTN) XP_024308868.1:p.Gly19520Ala