Canonical Allele Identifier: CA349658778

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178574904A>C , CM000664.2:g.178574904A>C GRCh38
NC_000002.11:g.179439631A>C , CM000664.1:g.179439631A>C GRCh37
NC_000002.10:g.179147877A>C NCBI36
NG_011618.3:g.260899T>G , LRG_391:g.260899T>G
NG_051363.1:g.57078A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.63524T>G (TTN) ENSP00000343764.6:p.Phe21175Cys
ENST00000342175.11:c.44609T>G (TTN) ENSP00000340554.6:p.Phe14870Cys
ENST00000359218.10:c.44408T>G (TTN) ENSP00000352154.5:p.Phe14803Cys
ENST00000342175.10:c.44609T>G (TTN) ENSP00000340554.6:p.Phe14870Cys
ENST00000342992.10:c.63524T>G (TTN) ENSP00000343764.6:p.Phe21175Cys
ENST00000359218.9:c.44408T>G (TTN) ENSP00000352154.5:p.Phe14803Cys
ENST00000460472.6:c.44033T>G (TTN) ENSP00000434586.1:p.Phe14678Cys
ENST00000589042.5:c.71228T>G (TTN) MANE Select ENSP00000467141.1:p.Phe23743Cys
ENST00000591111.5:c.66305T>G (TTN) ENSP00000465570.1:p.Phe22102Cys
ENST00000615779.4:c.66305T>G (TTN) ENSP00000483597.1:p.Phe22102Cys
NM_001256850.1:c.66305T>G (TTN) NP_001243779.1:p.Phe22102Cys
NM_001267550.2:c.71228T>G (TTN) MANE Select NP_001254479.2:p.Phe23743Cys
NM_003319.4:c.44033T>G (TTN) NP_003310.4:p.Phe14678Cys
NM_133378.4:c.63524T>G (TTN) NP_596869.4:p.Phe21175Cys
NM_133432.3:c.44408T>G (TTN) NP_597676.3:p.Phe14803Cys
NM_133437.4:c.44609T>G (TTN) NP_597681.4:p.Phe14870Cys
NR_038271.1:n.596+3455A>C (TTN-AS1)
NR_038272.1:n.2044-7668A>C (TTN-AS1)
XM_011511729.1:c.70325T>G (TTN) XP_011510031.1:p.Phe23442Cys
XM_011511730.1:c.44219T>G (TTN) XP_011510032.1:p.Phe14740Cys
XM_011511731.1:c.44078T>G (TTN) XP_011510033.1:p.Phe14693Cys
XM_017004819.1:c.70121T>G (TTN) XP_016860308.1:p.Phe23374Cys
XM_017004820.1:c.65519T>G (TTN) XP_016860309.1:p.Phe21840Cys
XM_017004821.1:c.65516T>G (TTN) XP_016860310.1:p.Phe21839Cys
XM_017004822.1:c.62558T>G (TTN) XP_016860311.1:p.Phe20853Cys
XM_017004823.1:c.44174T>G (TTN) XP_016860312.1:p.Phe14725Cys
XM_024453094.1:c.65669T>G (TTN) XP_024308862.1:p.Phe21890Cys
XM_024453095.1:c.65666T>G (TTN) XP_024308863.1:p.Phe21889Cys
XM_024453096.1:c.65099T>G (TTN) XP_024308864.1:p.Phe21700Cys
XM_024453097.1:c.62441T>G (TTN) XP_024308865.1:p.Phe20814Cys
XM_024453098.1:c.62360T>G (TTN) XP_024308866.1:p.Phe20787Cys
XM_024453099.1:c.44123T>G (TTN) XP_024308867.1:p.Phe14708Cys
XM_024453100.1:c.33977T>G (TTN) XP_024308868.1:p.Phe11326Cys