Canonical Allele Identifier: CA185068

Linked Data

ClinVar Variation Id: 179752
dbSNP Id: rs727505101

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591882C>T , CM000664.2:g.178591882C>T GRCh38
NC_000002.11:g.179456609C>T , CM000664.1:g.179456609C>T GRCh37
NC_000002.10:g.179164855C>T NCBI36
NG_011618.3:g.243921G>A , LRG_391:g.243921G>A
NG_051363.1:g.74056C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.52233G>A (TTN) ENSP00000343764.6:p.Gly17411=
ENST00000342175.11:c.33318G>A (TTN) ENSP00000340554.6:p.Gly11106=
ENST00000359218.10:c.33117G>A (TTN) ENSP00000352154.5:p.Gly11039=
ENST00000342175.10:c.33318G>A (TTN) ENSP00000340554.6:p.Gly11106=
ENST00000342992.10:c.52233G>A (TTN) ENSP00000343764.6:p.Gly17411=
ENST00000359218.9:c.33117G>A (TTN) ENSP00000352154.5:p.Gly11039=
ENST00000460472.6:c.32742G>A (TTN) ENSP00000434586.1:p.Gly10914=
ENST00000589042.5:c.59937G>A (TTN) MANE Select ENSP00000467141.1:p.Gly19979=
ENST00000591111.5:c.55014G>A (TTN) ENSP00000465570.1:p.Gly18338=
ENST00000615779.4:c.55014G>A (TTN) ENSP00000483597.1:p.Gly18338=
NM_001256850.1:c.55014G>A (TTN) NP_001243779.1:p.Gly18338=
NM_001267550.2:c.59937G>A (TTN) MANE Select NP_001254479.2:p.Gly19979=
NM_003319.4:c.32742G>A (TTN) NP_003310.4:p.Gly10914=
NM_133378.4:c.52233G>A (TTN) NP_596869.4:p.Gly17411=
NM_133432.3:c.33117G>A (TTN) NP_597676.3:p.Gly11039=
NM_133437.4:c.33318G>A (TTN) NP_597681.4:p.Gly11106=
NR_038271.1:n.597-5714C>T (TTN-AS1)
NR_038272.1:n.3364+568C>T (TTN-AS1)
XM_011511729.1:c.59034G>A (TTN) XP_011510031.1:p.Gly19678=
XM_011511730.1:c.32928G>A (TTN) XP_011510032.1:p.Gly10976=
XM_011511731.1:c.32787G>A (TTN) XP_011510033.1:p.Gly10929=
XM_017004819.1:c.58830G>A (TTN) XP_016860308.1:p.Gly19610=
XM_017004820.1:c.54228G>A (TTN) XP_016860309.1:p.Gly18076=
XM_017004821.1:c.54225G>A (TTN) XP_016860310.1:p.Gly18075=
XM_017004822.1:c.51267G>A (TTN) XP_016860311.1:p.Gly17089=
XM_017004823.1:c.32883G>A (TTN) XP_016860312.1:p.Gly10961=
XM_024453094.1:c.54378G>A (TTN) XP_024308862.1:p.Gly18126=
XM_024453095.1:c.54375G>A (TTN) XP_024308863.1:p.Gly18125=
XM_024453096.1:c.53808G>A (TTN) XP_024308864.1:p.Gly17936=
XM_024453097.1:c.51150G>A (TTN) XP_024308865.1:p.Gly17050=
XM_024453098.1:c.51069G>A (TTN) XP_024308866.1:p.Gly17023=
XM_024453099.1:c.32832G>A (TTN) XP_024308867.1:p.Gly10944=
XM_024453100.1:c.22686G>A (TTN) XP_024308868.1:p.Gly7562=