Canonical Allele Identifier: CA349427897

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537620A>C , CM000664.2:g.178537620A>C GRCh38
NC_000002.11:g.179402347A>C , CM000664.1:g.179402347A>C GRCh37
NC_000002.10:g.179110593A>C NCBI36
NG_011618.3:g.298183T>G , LRG_391:g.298183T>G
NG_051363.1:g.19794A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.91883T>G (TTN) ENSP00000343764.6:p.Phe30628Cys
ENST00000342175.11:c.72968T>G (TTN) ENSP00000340554.6:p.Phe24323Cys
ENST00000359218.10:c.72767T>G (TTN) ENSP00000352154.5:p.Phe24256Cys
ENST00000342175.10:c.72968T>G (TTN) ENSP00000340554.6:p.Phe24323Cys
ENST00000342992.10:c.91883T>G (TTN) ENSP00000343764.6:p.Phe30628Cys
ENST00000359218.9:c.72767T>G (TTN) ENSP00000352154.5:p.Phe24256Cys
ENST00000460472.6:c.72392T>G (TTN) ENSP00000434586.1:p.Phe24131Cys
ENST00000589042.5:c.99587T>G (TTN) MANE Select ENSP00000467141.1:p.Phe33196Cys
ENST00000591111.5:c.94664T>G (TTN) ENSP00000465570.1:p.Phe31555Cys
ENST00000615779.4:c.94664T>G (TTN) ENSP00000483597.1:p.Phe31555Cys
NM_001256850.1:c.94664T>G (TTN) NP_001243779.1:p.Phe31555Cys
NM_001267550.2:c.99587T>G (TTN) MANE Select NP_001254479.2:p.Phe33196Cys
NM_003319.4:c.72392T>G (TTN) NP_003310.4:p.Phe24131Cys
NM_133378.4:c.91883T>G (TTN) NP_596869.4:p.Phe30628Cys
NM_133432.3:c.72767T>G (TTN) NP_597676.3:p.Phe24256Cys
NM_133437.4:c.72968T>G (TTN) NP_597681.4:p.Phe24323Cys
NR_038271.1:n.446+13984A>C (TTN-AS1)
NR_038272.1:n.576A>C (TTN-AS1)
XM_011511729.1:c.98684T>G (TTN) XP_011510031.1:p.Phe32895Cys
XM_011511730.1:c.72578T>G (TTN) XP_011510032.1:p.Phe24193Cys
XM_011511731.1:c.72437T>G (TTN) XP_011510033.1:p.Phe24146Cys
XM_017004819.1:c.98480T>G (TTN) XP_016860308.1:p.Phe32827Cys
XM_017004820.1:c.93878T>G (TTN) XP_016860309.1:p.Phe31293Cys
XM_017004821.1:c.93875T>G (TTN) XP_016860310.1:p.Phe31292Cys
XM_017004822.1:c.90917T>G (TTN) XP_016860311.1:p.Phe30306Cys
XM_017004823.1:c.72533T>G (TTN) XP_016860312.1:p.Phe24178Cys
XM_024453094.1:c.94028T>G (TTN) XP_024308862.1:p.Phe31343Cys
XM_024453095.1:c.94025T>G (TTN) XP_024308863.1:p.Phe31342Cys
XM_024453096.1:c.93458T>G (TTN) XP_024308864.1:p.Phe31153Cys
XM_024453097.1:c.90800T>G (TTN) XP_024308865.1:p.Phe30267Cys
XM_024453098.1:c.90719T>G (TTN) XP_024308866.1:p.Phe30240Cys
XM_024453099.1:c.72482T>G (TTN) XP_024308867.1:p.Phe24161Cys
XM_024453100.1:c.62336T>G (TTN) XP_024308868.1:p.Phe20779Cys