Canonical Allele Identifier: CA349488479

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591883C>G , CM000664.2:g.178591883C>G GRCh38
NC_000002.11:g.179456610C>G , CM000664.1:g.179456610C>G GRCh37
NC_000002.10:g.179164856C>G NCBI36
NG_011618.3:g.243920G>C , LRG_391:g.243920G>C
NG_051363.1:g.74057C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52232G>C (TTN) ENSP00000343764.6:p.Gly17411Ala
ENST00000342175.11:c.33317G>C (TTN) ENSP00000340554.6:p.Gly11106Ala
ENST00000359218.10:c.33116G>C (TTN) ENSP00000352154.5:p.Gly11039Ala
ENST00000342175.10:c.33317G>C (TTN) ENSP00000340554.6:p.Gly11106Ala
ENST00000342992.10:c.52232G>C (TTN) ENSP00000343764.6:p.Gly17411Ala
ENST00000359218.9:c.33116G>C (TTN) ENSP00000352154.5:p.Gly11039Ala
ENST00000460472.6:c.32741G>C (TTN) ENSP00000434586.1:p.Gly10914Ala
ENST00000589042.5:c.59936G>C (TTN) MANE Select ENSP00000467141.1:p.Gly19979Ala
ENST00000591111.5:c.55013G>C (TTN) ENSP00000465570.1:p.Gly18338Ala
ENST00000615779.4:c.55013G>C (TTN) ENSP00000483597.1:p.Gly18338Ala
NM_001256850.1:c.55013G>C (TTN) NP_001243779.1:p.Gly18338Ala
NM_001267550.2:c.59936G>C (TTN) MANE Select NP_001254479.2:p.Gly19979Ala
NM_003319.4:c.32741G>C (TTN) NP_003310.4:p.Gly10914Ala
NM_133378.4:c.52232G>C (TTN) NP_596869.4:p.Gly17411Ala
NM_133432.3:c.33116G>C (TTN) NP_597676.3:p.Gly11039Ala
NM_133437.4:c.33317G>C (TTN) NP_597681.4:p.Gly11106Ala
NR_038271.1:n.597-5713C>G (TTN-AS1)
NR_038272.1:n.3364+569C>G (TTN-AS1)
XM_011511729.1:c.59033G>C (TTN) XP_011510031.1:p.Gly19678Ala
XM_011511730.1:c.32927G>C (TTN) XP_011510032.1:p.Gly10976Ala
XM_011511731.1:c.32786G>C (TTN) XP_011510033.1:p.Gly10929Ala
XM_017004819.1:c.58829G>C (TTN) XP_016860308.1:p.Gly19610Ala
XM_017004820.1:c.54227G>C (TTN) XP_016860309.1:p.Gly18076Ala
XM_017004821.1:c.54224G>C (TTN) XP_016860310.1:p.Gly18075Ala
XM_017004822.1:c.51266G>C (TTN) XP_016860311.1:p.Gly17089Ala
XM_017004823.1:c.32882G>C (TTN) XP_016860312.1:p.Gly10961Ala
XM_024453094.1:c.54377G>C (TTN) XP_024308862.1:p.Gly18126Ala
XM_024453095.1:c.54374G>C (TTN) XP_024308863.1:p.Gly18125Ala
XM_024453096.1:c.53807G>C (TTN) XP_024308864.1:p.Gly17936Ala
XM_024453097.1:c.51149G>C (TTN) XP_024308865.1:p.Gly17050Ala
XM_024453098.1:c.51068G>C (TTN) XP_024308866.1:p.Gly17023Ala
XM_024453099.1:c.32831G>C (TTN) XP_024308867.1:p.Gly10944Ala
XM_024453100.1:c.22685G>C (TTN) XP_024308868.1:p.Gly7562Ala