Canonical Allele Identifier: CA1985178

Linked Data

ClinVar Variation Id: 332683
dbSNP Id: rs148865574

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530595A>G , CM000664.2:g.178530595A>G GRCh38
NC_000002.11:g.179395322A>G , CM000664.1:g.179395322A>G GRCh37
NC_000002.10:g.179103568A>G NCBI36
NG_011618.3:g.305208T>C , LRG_391:g.305208T>C
NG_051363.1:g.12769A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98316T>C (TTN) ENSP00000343764.6:p.Gly32772=
ENST00000342175.11:c.79401T>C (TTN) ENSP00000340554.6:p.Gly26467=
ENST00000359218.10:c.79200T>C (TTN) ENSP00000352154.5:p.Gly26400=
ENST00000342175.10:c.79401T>C (TTN) ENSP00000340554.6:p.Gly26467=
ENST00000342992.10:c.98316T>C (TTN) ENSP00000343764.6:p.Gly32772=
ENST00000359218.9:c.79200T>C (TTN) ENSP00000352154.5:p.Gly26400=
ENST00000460472.6:c.78825T>C (TTN) ENSP00000434586.1:p.Gly26275=
ENST00000589042.5:c.106020T>C (TTN) MANE Select ENSP00000467141.1:p.Gly35340=
ENST00000591111.5:c.101097T>C (TTN) ENSP00000465570.1:p.Gly33699=
ENST00000615779.4:c.101097T>C (TTN) ENSP00000483597.1:p.Gly33699=
NM_001256850.1:c.101097T>C (TTN) NP_001243779.1:p.Gly33699=
NM_001267550.2:c.106020T>C (TTN) MANE Select NP_001254479.2:p.Gly35340=
NM_003319.4:c.78825T>C (TTN) NP_003310.4:p.Gly26275=
NM_133378.4:c.98316T>C (TTN) NP_596869.4:p.Gly32772=
NM_133432.3:c.79200T>C (TTN) NP_597676.3:p.Gly26400=
NM_133437.4:c.79401T>C (TTN) NP_597681.4:p.Gly26467=
NR_038271.1:n.446+6959A>G (TTN-AS1)
NR_038272.1:n.220-5137A>G (TTN-AS1)
XM_011511729.1:c.105117T>C (TTN) XP_011510031.1:p.Gly35039=
XM_011511730.1:c.79011T>C (TTN) XP_011510032.1:p.Gly26337=
XM_011511731.1:c.78870T>C (TTN) XP_011510033.1:p.Gly26290=
XM_017004819.1:c.104913T>C (TTN) XP_016860308.1:p.Gly34971=
XM_017004820.1:c.100311T>C (TTN) XP_016860309.1:p.Gly33437=
XM_017004821.1:c.100308T>C (TTN) XP_016860310.1:p.Gly33436=
XM_017004822.1:c.97350T>C (TTN) XP_016860311.1:p.Gly32450=
XM_017004823.1:c.78966T>C (TTN) XP_016860312.1:p.Gly26322=
XM_024453094.1:c.100461T>C (TTN) XP_024308862.1:p.Gly33487=
XM_024453095.1:c.100458T>C (TTN) XP_024308863.1:p.Gly33486=
XM_024453096.1:c.99891T>C (TTN) XP_024308864.1:p.Gly33297=
XM_024453097.1:c.97233T>C (TTN) XP_024308865.1:p.Gly32411=
XM_024453098.1:c.97152T>C (TTN) XP_024308866.1:p.Gly32384=
XM_024453099.1:c.78915T>C (TTN) XP_024308867.1:p.Gly26305=
XM_024453100.1:c.68769T>C (TTN) XP_024308868.1:p.Gly22923=