Canonical Allele Identifier: CA349611956

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568934T>C , CM000664.2:g.178568934T>C GRCh38
NC_000002.11:g.179433661T>C , CM000664.1:g.179433661T>C GRCh37
NC_000002.10:g.179141907T>C NCBI36
NG_011618.3:g.266869A>G , LRG_391:g.266869A>G
NG_051363.1:g.51108T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.69494A>G (TTN) ENSP00000343764.6:p.Tyr23165Cys
ENST00000342175.11:c.50579A>G (TTN) ENSP00000340554.6:p.Tyr16860Cys
ENST00000359218.10:c.50378A>G (TTN) ENSP00000352154.5:p.Tyr16793Cys
ENST00000342175.10:c.50579A>G (TTN) ENSP00000340554.6:p.Tyr16860Cys
ENST00000342992.10:c.69494A>G (TTN) ENSP00000343764.6:p.Tyr23165Cys
ENST00000359218.9:c.50378A>G (TTN) ENSP00000352154.5:p.Tyr16793Cys
ENST00000460472.6:c.50003A>G (TTN) ENSP00000434586.1:p.Tyr16668Cys
ENST00000589042.5:c.77198A>G (TTN) MANE Select ENSP00000467141.1:p.Tyr25733Cys
ENST00000591111.5:c.72275A>G (TTN) ENSP00000465570.1:p.Tyr24092Cys
ENST00000615779.4:c.72275A>G (TTN) ENSP00000483597.1:p.Tyr24092Cys
NM_001256850.1:c.72275A>G (TTN) NP_001243779.1:p.Tyr24092Cys
NM_001267550.2:c.77198A>G (TTN) MANE Select NP_001254479.2:p.Tyr25733Cys
NM_003319.4:c.50003A>G (TTN) NP_003310.4:p.Tyr16668Cys
NM_133378.4:c.69494A>G (TTN) NP_596869.4:p.Tyr23165Cys
NM_133432.3:c.50378A>G (TTN) NP_597676.3:p.Tyr16793Cys
NM_133437.4:c.50579A>G (TTN) NP_597681.4:p.Tyr16860Cys
NR_038271.1:n.447-2366T>C (TTN-AS1)
NR_038272.1:n.2044-13638T>C (TTN-AS1)
XM_011511729.1:c.76295A>G (TTN) XP_011510031.1:p.Tyr25432Cys
XM_011511730.1:c.50189A>G (TTN) XP_011510032.1:p.Tyr16730Cys
XM_011511731.1:c.50048A>G (TTN) XP_011510033.1:p.Tyr16683Cys
XM_017004819.1:c.76091A>G (TTN) XP_016860308.1:p.Tyr25364Cys
XM_017004820.1:c.71489A>G (TTN) XP_016860309.1:p.Tyr23830Cys
XM_017004821.1:c.71486A>G (TTN) XP_016860310.1:p.Tyr23829Cys
XM_017004822.1:c.68528A>G (TTN) XP_016860311.1:p.Tyr22843Cys
XM_017004823.1:c.50144A>G (TTN) XP_016860312.1:p.Tyr16715Cys
XM_024453094.1:c.71639A>G (TTN) XP_024308862.1:p.Tyr23880Cys
XM_024453095.1:c.71636A>G (TTN) XP_024308863.1:p.Tyr23879Cys
XM_024453096.1:c.71069A>G (TTN) XP_024308864.1:p.Tyr23690Cys
XM_024453097.1:c.68411A>G (TTN) XP_024308865.1:p.Tyr22804Cys
XM_024453098.1:c.68330A>G (TTN) XP_024308866.1:p.Tyr22777Cys
XM_024453099.1:c.50093A>G (TTN) XP_024308867.1:p.Tyr16698Cys
XM_024453100.1:c.39947A>G (TTN) XP_024308868.1:p.Tyr13316Cys