Canonical Allele Identifier: CA10587452

Linked Data

ClinVar Variation Id: 263456
dbSNP Id: rs886038812

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552654T>C , CM000664.2:g.178552654T>C GRCh38
NC_000002.11:g.179417381T>C , CM000664.1:g.179417381T>C GRCh37
NC_000002.10:g.179125627T>C NCBI36
NG_011618.3:g.283149A>G , LRG_391:g.283149A>G
NG_051363.1:g.34828T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342175.11:n.63627A>G ENSP00000340554.6:p.Ile21209Met
ENST00000359218.10:n.63426A>G ENSP00000352154.5:p.Ile21142Met
ENST00000342175.10:c.63627A>G ENSP00000340554.6:p.Ile21209Met
ENST00000342992.10:c.82542A>G ENSP00000343764.6:p.Ile27514Met
ENST00000359218.9:c.63426A>G ENSP00000352154.5:p.Ile21142Met
ENST00000460472.6:c.63051A>G ENSP00000434586.1:p.Ile21017Met
ENST00000589042.5:c.90246A>G (TTN) MANE Select ENSP00000467141.1:p.Ile30082Met
ENST00000591111.5:c.85323A>G ENSP00000465570.1:p.Ile28441Met
ENST00000615779.4:c.85323A>G ENSP00000483597.1:p.Ile28441Met
NM_001256850.1:c.85323A>G (TTN) NP_001243779.1:p.Ile28441Met
NM_001267550.2:c.90246A>G (TTN) MANE Select NP_001254479.2:p.Ile30082Met
NM_003319.4:c.63051A>G (TTN) NP_003310.4:p.Ile21017Met
NM_133378.4:c.82542A>G (TTN) NP_596869.4:p.Ile27514Met
NM_133432.3:c.63426A>G (TTN) NP_597676.3:p.Ile21142Met
NM_133437.4:c.63627A>G (TTN) NP_597681.4:p.Ile21209Met
NR_038271.1:n.447-18646T>C (TTN-AS1)
NR_038272.1:n.2043+10293T>C (TTN-AS1)
XM_011511729.1:c.89343A>G (TTN) XP_011510031.1:p.Ile29781Met
XM_011511730.1:c.63237A>G (TTN) XP_011510032.1:p.Ile21079Met
XM_011511731.1:c.63096A>G (TTN) XP_011510033.1:p.Ile21032Met
XM_017004819.1:c.89139A>G (TTN) XP_016860308.1:p.Ile29713Met
XM_017004820.1:c.84537A>G (TTN) XP_016860309.1:p.Ile28179Met
XM_017004821.1:c.84534A>G (TTN) XP_016860310.1:p.Ile28178Met
XM_017004822.1:c.81576A>G (TTN) XP_016860311.1:p.Ile27192Met
XM_017004823.1:c.63192A>G (TTN) XP_016860312.1:p.Ile21064Met
XM_024453094.1:c.84687A>G (TTN) XP_024308862.1:p.Ile28229Met
XM_024453095.1:c.84684A>G (TTN) XP_024308863.1:p.Ile28228Met
XM_024453096.1:c.84117A>G (TTN) XP_024308864.1:p.Ile28039Met
XM_024453097.1:c.81459A>G (TTN) XP_024308865.1:p.Ile27153Met
XM_024453098.1:c.81378A>G (TTN) XP_024308866.1:p.Ile27126Met
XM_024453099.1:c.63141A>G (TTN) XP_024308867.1:p.Ile21047Met
XM_024453100.1:c.52995A>G (TTN) XP_024308868.1:p.Ile17665Met