Canonical Allele Identifier: CA349611949

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568933A>C , CM000664.2:g.178568933A>C GRCh38
NC_000002.11:g.179433660A>C , CM000664.1:g.179433660A>C GRCh37
NC_000002.10:g.179141906A>C NCBI36
NG_011618.3:g.266870T>G , LRG_391:g.266870T>G
NG_051363.1:g.51107A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.69495T>G (TTN) ENSP00000343764.6:p.Tyr23165Ter
ENST00000342175.11:c.50580T>G (TTN) ENSP00000340554.6:p.Tyr16860Ter
ENST00000359218.10:c.50379T>G (TTN) ENSP00000352154.5:p.Tyr16793Ter
ENST00000342175.10:c.50580T>G (TTN) ENSP00000340554.6:p.Tyr16860Ter
ENST00000342992.10:c.69495T>G (TTN) ENSP00000343764.6:p.Tyr23165Ter
ENST00000359218.9:c.50379T>G (TTN) ENSP00000352154.5:p.Tyr16793Ter
ENST00000460472.6:c.50004T>G (TTN) ENSP00000434586.1:p.Tyr16668Ter
ENST00000589042.5:c.77199T>G (TTN) MANE Select ENSP00000467141.1:p.Tyr25733Ter
ENST00000591111.5:c.72276T>G (TTN) ENSP00000465570.1:p.Tyr24092Ter
ENST00000615779.4:c.72276T>G (TTN) ENSP00000483597.1:p.Tyr24092Ter
NM_001256850.1:c.72276T>G (TTN) NP_001243779.1:p.Tyr24092Ter
NM_001267550.2:c.77199T>G (TTN) MANE Select NP_001254479.2:p.Tyr25733Ter
NM_003319.4:c.50004T>G (TTN) NP_003310.4:p.Tyr16668Ter
NM_133378.4:c.69495T>G (TTN) NP_596869.4:p.Tyr23165Ter
NM_133432.3:c.50379T>G (TTN) NP_597676.3:p.Tyr16793Ter
NM_133437.4:c.50580T>G (TTN) NP_597681.4:p.Tyr16860Ter
NR_038271.1:n.447-2367A>C (TTN-AS1)
NR_038272.1:n.2044-13639A>C (TTN-AS1)
XM_011511729.1:c.76296T>G (TTN) XP_011510031.1:p.Tyr25432Ter
XM_011511730.1:c.50190T>G (TTN) XP_011510032.1:p.Tyr16730Ter
XM_011511731.1:c.50049T>G (TTN) XP_011510033.1:p.Tyr16683Ter
XM_017004819.1:c.76092T>G (TTN) XP_016860308.1:p.Tyr25364Ter
XM_017004820.1:c.71490T>G (TTN) XP_016860309.1:p.Tyr23830Ter
XM_017004821.1:c.71487T>G (TTN) XP_016860310.1:p.Tyr23829Ter
XM_017004822.1:c.68529T>G (TTN) XP_016860311.1:p.Tyr22843Ter
XM_017004823.1:c.50145T>G (TTN) XP_016860312.1:p.Tyr16715Ter
XM_024453094.1:c.71640T>G (TTN) XP_024308862.1:p.Tyr23880Ter
XM_024453095.1:c.71637T>G (TTN) XP_024308863.1:p.Tyr23879Ter
XM_024453096.1:c.71070T>G (TTN) XP_024308864.1:p.Tyr23690Ter
XM_024453097.1:c.68412T>G (TTN) XP_024308865.1:p.Tyr22804Ter
XM_024453098.1:c.68331T>G (TTN) XP_024308866.1:p.Tyr22777Ter
XM_024453099.1:c.50094T>G (TTN) XP_024308867.1:p.Tyr16698Ter
XM_024453100.1:c.39948T>G (TTN) XP_024308868.1:p.Tyr13316Ter