Canonical Allele Identifier: CA349618612

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618192A>C , CM000664.2:g.178618192A>C GRCh38
NC_000002.11:g.179482919A>C , CM000664.1:g.179482919A>C GRCh37
NC_000002.10:g.179191164A>C NCBI36
NG_011618.3:g.217611T>G , LRG_391:g.217611T>G
NG_051363.1:g.100366A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.39562T>G (TTN) ENSP00000343764.6:p.Tyr13188Asp
ENST00000342175.11:c.20647T>G (TTN) ENSP00000340554.6:p.Tyr6883Asp
ENST00000359218.10:c.20446T>G (TTN) ENSP00000352154.5:p.Tyr6816Asp
ENST00000342175.10:c.20647T>G (TTN) ENSP00000340554.6:p.Tyr6883Asp
ENST00000342992.10:c.39562T>G (TTN) ENSP00000343764.6:p.Tyr13188Asp
ENST00000359218.9:c.20446T>G (TTN) ENSP00000352154.5:p.Tyr6816Asp
ENST00000460472.6:c.20071T>G (TTN) ENSP00000434586.1:p.Tyr6691Asp
ENST00000589042.5:c.47266T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr15756Asp
ENST00000591111.5:c.42343T>G (TTN) ENSP00000465570.1:p.Tyr14115Asp
ENST00000615779.4:c.42343T>G (TTN) ENSP00000483597.1:p.Tyr14115Asp
NM_001256850.1:c.42343T>G (TTN) NP_001243779.1:p.Tyr14115Asp
NM_001267550.2:c.47266T>G (TTN) MANE Select NP_001254479.2:p.Tyr15756Asp
NM_003319.4:c.20071T>G (TTN) NP_003310.4:p.Tyr6691Asp
NM_133378.4:c.39562T>G (TTN) NP_596869.4:p.Tyr13188Asp
NM_133432.3:c.20446T>G (TTN) NP_597676.3:p.Tyr6816Asp
NM_133437.4:c.20647T>G (TTN) NP_597681.4:p.Tyr6883Asp
NR_038271.1:n.1605-1561A>C (TTN-AS1)
XM_011511729.1:c.46363T>G (TTN) XP_011510031.1:p.Tyr15455Asp
XM_011511730.1:c.20257T>G (TTN) XP_011510032.1:p.Tyr6753Asp
XM_011511731.1:c.20116T>G (TTN) XP_011510033.1:p.Tyr6706Asp
XM_017004819.1:c.46159T>G (TTN) XP_016860308.1:p.Tyr15387Asp
XM_017004820.1:c.41557T>G (TTN) XP_016860309.1:p.Tyr13853Asp
XM_017004821.1:c.41554T>G (TTN) XP_016860310.1:p.Tyr13852Asp
XM_017004822.1:c.38596T>G (TTN) XP_016860311.1:p.Tyr12866Asp
XM_017004823.1:c.20212T>G (TTN) XP_016860312.1:p.Tyr6738Asp
XM_024453094.1:c.41707T>G (TTN) XP_024308862.1:p.Tyr13903Asp
XM_024453095.1:c.41704T>G (TTN) XP_024308863.1:p.Tyr13902Asp
XM_024453096.1:c.41137T>G (TTN) XP_024308864.1:p.Tyr13713Asp
XM_024453097.1:c.38479T>G (TTN) XP_024308865.1:p.Tyr12827Asp
XM_024453098.1:c.38398T>G (TTN) XP_024308866.1:p.Tyr12800Asp
XM_024453099.1:c.20161T>G (TTN) XP_024308867.1:p.Tyr6721Asp
XM_024453100.1:c.10015T>G (TTN) XP_024308868.1:p.Tyr3339Asp