Canonical Allele Identifier: CA349512579

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552655A>G , CM000664.2:g.178552655A>G GRCh38
NC_000002.11:g.179417382A>G , CM000664.1:g.179417382A>G GRCh37
NC_000002.10:g.179125628A>G NCBI36
NG_011618.3:g.283148T>C , LRG_391:g.283148T>C
NG_051363.1:g.34829A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82541T>C (TTN) ENSP00000343764.6:p.Ile27514Thr
ENST00000342175.11:c.63626T>C (TTN) ENSP00000340554.6:p.Ile21209Thr
ENST00000359218.10:c.63425T>C (TTN) ENSP00000352154.5:p.Ile21142Thr
ENST00000342175.10:c.63626T>C (TTN) ENSP00000340554.6:p.Ile21209Thr
ENST00000342992.10:c.82541T>C (TTN) ENSP00000343764.6:p.Ile27514Thr
ENST00000359218.9:c.63425T>C (TTN) ENSP00000352154.5:p.Ile21142Thr
ENST00000460472.6:c.63050T>C (TTN) ENSP00000434586.1:p.Ile21017Thr
ENST00000589042.5:c.90245T>C (TTN) MANE Select ENSP00000467141.1:p.Ile30082Thr
ENST00000591111.5:c.85322T>C (TTN) ENSP00000465570.1:p.Ile28441Thr
ENST00000615779.4:c.85322T>C (TTN) ENSP00000483597.1:p.Ile28441Thr
NM_001256850.1:c.85322T>C (TTN) NP_001243779.1:p.Ile28441Thr
NM_001267550.2:c.90245T>C (TTN) MANE Select NP_001254479.2:p.Ile30082Thr
NM_003319.4:c.63050T>C (TTN) NP_003310.4:p.Ile21017Thr
NM_133378.4:c.82541T>C (TTN) NP_596869.4:p.Ile27514Thr
NM_133432.3:c.63425T>C (TTN) NP_597676.3:p.Ile21142Thr
NM_133437.4:c.63626T>C (TTN) NP_597681.4:p.Ile21209Thr
NR_038271.1:n.447-18645A>G (TTN-AS1)
NR_038272.1:n.2043+10294A>G (TTN-AS1)
XM_011511729.1:c.89342T>C (TTN) XP_011510031.1:p.Ile29781Thr
XM_011511730.1:c.63236T>C (TTN) XP_011510032.1:p.Ile21079Thr
XM_011511731.1:c.63095T>C (TTN) XP_011510033.1:p.Ile21032Thr
XM_017004819.1:c.89138T>C (TTN) XP_016860308.1:p.Ile29713Thr
XM_017004820.1:c.84536T>C (TTN) XP_016860309.1:p.Ile28179Thr
XM_017004821.1:c.84533T>C (TTN) XP_016860310.1:p.Ile28178Thr
XM_017004822.1:c.81575T>C (TTN) XP_016860311.1:p.Ile27192Thr
XM_017004823.1:c.63191T>C (TTN) XP_016860312.1:p.Ile21064Thr
XM_024453094.1:c.84686T>C (TTN) XP_024308862.1:p.Ile28229Thr
XM_024453095.1:c.84683T>C (TTN) XP_024308863.1:p.Ile28228Thr
XM_024453096.1:c.84116T>C (TTN) XP_024308864.1:p.Ile28039Thr
XM_024453097.1:c.81458T>C (TTN) XP_024308865.1:p.Ile27153Thr
XM_024453098.1:c.81377T>C (TTN) XP_024308866.1:p.Ile27126Thr
XM_024453099.1:c.63140T>C (TTN) XP_024308867.1:p.Ile21047Thr
XM_024453100.1:c.52994T>C (TTN) XP_024308868.1:p.Ile17665Thr