Canonical Allele Identifier: CA349470716

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546683A>C , CM000664.2:g.178546683A>C GRCh38
NC_000002.11:g.179411410A>C , CM000664.1:g.179411410A>C GRCh37
NC_000002.10:g.179119656A>C NCBI36
NG_011618.3:g.289120T>G , LRG_391:g.289120T>G
NG_051363.1:g.28857A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87041T>G (TTN) ENSP00000343764.6:p.Phe29014Cys
ENST00000342175.11:c.68126T>G (TTN) ENSP00000340554.6:p.Phe22709Cys
ENST00000359218.10:c.67925T>G (TTN) ENSP00000352154.5:p.Phe22642Cys
ENST00000342175.10:c.68126T>G (TTN) ENSP00000340554.6:p.Phe22709Cys
ENST00000342992.10:c.87041T>G (TTN) ENSP00000343764.6:p.Phe29014Cys
ENST00000359218.9:c.67925T>G (TTN) ENSP00000352154.5:p.Phe22642Cys
ENST00000460472.6:c.67550T>G (TTN) ENSP00000434586.1:p.Phe22517Cys
ENST00000589042.5:c.94745T>G (TTN) MANE Select ENSP00000467141.1:p.Phe31582Cys
ENST00000591111.5:c.89822T>G (TTN) ENSP00000465570.1:p.Phe29941Cys
ENST00000615779.4:c.89822T>G (TTN) ENSP00000483597.1:p.Phe29941Cys
NM_001256850.1:c.89822T>G (TTN) NP_001243779.1:p.Phe29941Cys
NM_001267550.2:c.94745T>G (TTN) MANE Select NP_001254479.2:p.Phe31582Cys
NM_003319.4:c.67550T>G (TTN) NP_003310.4:p.Phe22517Cys
NM_133378.4:c.87041T>G (TTN) NP_596869.4:p.Phe29014Cys
NM_133432.3:c.67925T>G (TTN) NP_597676.3:p.Phe22642Cys
NM_133437.4:c.68126T>G (TTN) NP_597681.4:p.Phe22709Cys
NR_038271.1:n.446+23047A>C (TTN-AS1)
NR_038272.1:n.2043+4322A>C (TTN-AS1)
XM_011511729.1:c.93842T>G (TTN) XP_011510031.1:p.Phe31281Cys
XM_011511730.1:c.67736T>G (TTN) XP_011510032.1:p.Phe22579Cys
XM_011511731.1:c.67595T>G (TTN) XP_011510033.1:p.Phe22532Cys
XM_017004819.1:c.93638T>G (TTN) XP_016860308.1:p.Phe31213Cys
XM_017004820.1:c.89036T>G (TTN) XP_016860309.1:p.Phe29679Cys
XM_017004821.1:c.89033T>G (TTN) XP_016860310.1:p.Phe29678Cys
XM_017004822.1:c.86075T>G (TTN) XP_016860311.1:p.Phe28692Cys
XM_017004823.1:c.67691T>G (TTN) XP_016860312.1:p.Phe22564Cys
XM_024453094.1:c.89186T>G (TTN) XP_024308862.1:p.Phe29729Cys
XM_024453095.1:c.89183T>G (TTN) XP_024308863.1:p.Phe29728Cys
XM_024453096.1:c.88616T>G (TTN) XP_024308864.1:p.Phe29539Cys
XM_024453097.1:c.85958T>G (TTN) XP_024308865.1:p.Phe28653Cys
XM_024453098.1:c.85877T>G (TTN) XP_024308866.1:p.Phe28626Cys
XM_024453099.1:c.67640T>G (TTN) XP_024308867.1:p.Phe22547Cys
XM_024453100.1:c.57494T>G (TTN) XP_024308868.1:p.Phe19165Cys