Canonical Allele Identifier: CA349600902

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567290A>C , CM000664.2:g.178567290A>C GRCh38
NC_000002.11:g.179432017A>C , CM000664.1:g.179432017A>C GRCh37
NC_000002.10:g.179140263A>C NCBI36
NG_011618.3:g.268513T>G , LRG_391:g.268513T>G
NG_051363.1:g.49464A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71138T>G (TTN) ENSP00000343764.6:p.Val23713Gly
ENST00000342175.11:c.52223T>G (TTN) ENSP00000340554.6:p.Val17408Gly
ENST00000359218.10:c.52022T>G (TTN) ENSP00000352154.5:p.Val17341Gly
ENST00000342175.10:c.52223T>G (TTN) ENSP00000340554.6:p.Val17408Gly
ENST00000342992.10:c.71138T>G (TTN) ENSP00000343764.6:p.Val23713Gly
ENST00000359218.9:c.52022T>G (TTN) ENSP00000352154.5:p.Val17341Gly
ENST00000460472.6:c.51647T>G (TTN) ENSP00000434586.1:p.Val17216Gly
ENST00000589042.5:c.78842T>G (TTN) MANE Select ENSP00000467141.1:p.Val26281Gly
ENST00000591111.5:c.73919T>G (TTN) ENSP00000465570.1:p.Val24640Gly
ENST00000615779.4:c.73919T>G (TTN) ENSP00000483597.1:p.Val24640Gly
NM_001256850.1:c.73919T>G (TTN) NP_001243779.1:p.Val24640Gly
NM_001267550.2:c.78842T>G (TTN) MANE Select NP_001254479.2:p.Val26281Gly
NM_003319.4:c.51647T>G (TTN) NP_003310.4:p.Val17216Gly
NM_133378.4:c.71138T>G (TTN) NP_596869.4:p.Val23713Gly
NM_133432.3:c.52022T>G (TTN) NP_597676.3:p.Val17341Gly
NM_133437.4:c.52223T>G (TTN) NP_597681.4:p.Val17408Gly
NR_038271.1:n.447-4010A>C (TTN-AS1)
NR_038272.1:n.2044-15282A>C (TTN-AS1)
XM_011511729.1:c.77939T>G (TTN) XP_011510031.1:p.Val25980Gly
XM_011511730.1:c.51833T>G (TTN) XP_011510032.1:p.Val17278Gly
XM_011511731.1:c.51692T>G (TTN) XP_011510033.1:p.Val17231Gly
XM_017004819.1:c.77735T>G (TTN) XP_016860308.1:p.Val25912Gly
XM_017004820.1:c.73133T>G (TTN) XP_016860309.1:p.Val24378Gly
XM_017004821.1:c.73130T>G (TTN) XP_016860310.1:p.Val24377Gly
XM_017004822.1:c.70172T>G (TTN) XP_016860311.1:p.Val23391Gly
XM_017004823.1:c.51788T>G (TTN) XP_016860312.1:p.Val17263Gly
XM_024453094.1:c.73283T>G (TTN) XP_024308862.1:p.Val24428Gly
XM_024453095.1:c.73280T>G (TTN) XP_024308863.1:p.Val24427Gly
XM_024453096.1:c.72713T>G (TTN) XP_024308864.1:p.Val24238Gly
XM_024453097.1:c.70055T>G (TTN) XP_024308865.1:p.Val23352Gly
XM_024453098.1:c.69974T>G (TTN) XP_024308866.1:p.Val23325Gly
XM_024453099.1:c.51737T>G (TTN) XP_024308867.1:p.Val17246Gly
XM_024453100.1:c.41591T>G (TTN) XP_024308868.1:p.Val13864Gly