Canonical Allele Identifier: CA349612906

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569114A>C , CM000664.2:g.178569114A>C GRCh38
NC_000002.11:g.179433841A>C , CM000664.1:g.179433841A>C GRCh37
NC_000002.10:g.179142087A>C NCBI36
NG_011618.3:g.266689T>G , LRG_391:g.266689T>G
NG_051363.1:g.51288A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.69314T>G (TTN) ENSP00000343764.6:p.Phe23105Cys
ENST00000342175.11:c.50399T>G (TTN) ENSP00000340554.6:p.Phe16800Cys
ENST00000359218.10:c.50198T>G (TTN) ENSP00000352154.5:p.Phe16733Cys
ENST00000342175.10:c.50399T>G (TTN) ENSP00000340554.6:p.Phe16800Cys
ENST00000342992.10:c.69314T>G (TTN) ENSP00000343764.6:p.Phe23105Cys
ENST00000359218.9:c.50198T>G (TTN) ENSP00000352154.5:p.Phe16733Cys
ENST00000460472.6:c.49823T>G (TTN) ENSP00000434586.1:p.Phe16608Cys
ENST00000589042.5:c.77018T>G (TTN) MANE Select ENSP00000467141.1:p.Phe25673Cys
ENST00000591111.5:c.72095T>G (TTN) ENSP00000465570.1:p.Phe24032Cys
ENST00000615779.4:c.72095T>G (TTN) ENSP00000483597.1:p.Phe24032Cys
NM_001256850.1:c.72095T>G (TTN) NP_001243779.1:p.Phe24032Cys
NM_001267550.2:c.77018T>G (TTN) MANE Select NP_001254479.2:p.Phe25673Cys
NM_003319.4:c.49823T>G (TTN) NP_003310.4:p.Phe16608Cys
NM_133378.4:c.69314T>G (TTN) NP_596869.4:p.Phe23105Cys
NM_133432.3:c.50198T>G (TTN) NP_597676.3:p.Phe16733Cys
NM_133437.4:c.50399T>G (TTN) NP_597681.4:p.Phe16800Cys
NR_038271.1:n.447-2186A>C (TTN-AS1)
NR_038272.1:n.2044-13458A>C (TTN-AS1)
XM_011511729.1:c.76115T>G (TTN) XP_011510031.1:p.Phe25372Cys
XM_011511730.1:c.50009T>G (TTN) XP_011510032.1:p.Phe16670Cys
XM_011511731.1:c.49868T>G (TTN) XP_011510033.1:p.Phe16623Cys
XM_017004819.1:c.75911T>G (TTN) XP_016860308.1:p.Phe25304Cys
XM_017004820.1:c.71309T>G (TTN) XP_016860309.1:p.Phe23770Cys
XM_017004821.1:c.71306T>G (TTN) XP_016860310.1:p.Phe23769Cys
XM_017004822.1:c.68348T>G (TTN) XP_016860311.1:p.Phe22783Cys
XM_017004823.1:c.49964T>G (TTN) XP_016860312.1:p.Phe16655Cys
XM_024453094.1:c.71459T>G (TTN) XP_024308862.1:p.Phe23820Cys
XM_024453095.1:c.71456T>G (TTN) XP_024308863.1:p.Phe23819Cys
XM_024453096.1:c.70889T>G (TTN) XP_024308864.1:p.Phe23630Cys
XM_024453097.1:c.68231T>G (TTN) XP_024308865.1:p.Phe22744Cys
XM_024453098.1:c.68150T>G (TTN) XP_024308866.1:p.Phe22717Cys
XM_024453099.1:c.49913T>G (TTN) XP_024308867.1:p.Phe16638Cys
XM_024453100.1:c.39767T>G (TTN) XP_024308868.1:p.Phe13256Cys