Canonical Allele Identifier: CA349610724

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568742T>C , CM000664.2:g.178568742T>C GRCh38
NC_000002.11:g.179433469T>C , CM000664.1:g.179433469T>C GRCh37
NC_000002.10:g.179141715T>C NCBI36
NG_011618.3:g.267061A>G , LRG_391:g.267061A>G
NG_051363.1:g.50916T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.69686A>G (TTN) ENSP00000343764.6:p.Glu23229Gly
ENST00000342175.11:c.50771A>G (TTN) ENSP00000340554.6:p.Glu16924Gly
ENST00000359218.10:c.50570A>G (TTN) ENSP00000352154.5:p.Glu16857Gly
ENST00000342175.10:c.50771A>G (TTN) ENSP00000340554.6:p.Glu16924Gly
ENST00000342992.10:c.69686A>G (TTN) ENSP00000343764.6:p.Glu23229Gly
ENST00000359218.9:c.50570A>G (TTN) ENSP00000352154.5:p.Glu16857Gly
ENST00000460472.6:c.50195A>G (TTN) ENSP00000434586.1:p.Glu16732Gly
ENST00000589042.5:c.77390A>G (TTN) MANE Select ENSP00000467141.1:p.Glu25797Gly
ENST00000591111.5:c.72467A>G (TTN) ENSP00000465570.1:p.Glu24156Gly
ENST00000615779.4:c.72467A>G (TTN) ENSP00000483597.1:p.Glu24156Gly
NM_001256850.1:c.72467A>G (TTN) NP_001243779.1:p.Glu24156Gly
NM_001267550.2:c.77390A>G (TTN) MANE Select NP_001254479.2:p.Glu25797Gly
NM_003319.4:c.50195A>G (TTN) NP_003310.4:p.Glu16732Gly
NM_133378.4:c.69686A>G (TTN) NP_596869.4:p.Glu23229Gly
NM_133432.3:c.50570A>G (TTN) NP_597676.3:p.Glu16857Gly
NM_133437.4:c.50771A>G (TTN) NP_597681.4:p.Glu16924Gly
NR_038271.1:n.447-2558T>C (TTN-AS1)
NR_038272.1:n.2044-13830T>C (TTN-AS1)
XM_011511729.1:c.76487A>G (TTN) XP_011510031.1:p.Glu25496Gly
XM_011511730.1:c.50381A>G (TTN) XP_011510032.1:p.Glu16794Gly
XM_011511731.1:c.50240A>G (TTN) XP_011510033.1:p.Glu16747Gly
XM_017004819.1:c.76283A>G (TTN) XP_016860308.1:p.Glu25428Gly
XM_017004820.1:c.71681A>G (TTN) XP_016860309.1:p.Glu23894Gly
XM_017004821.1:c.71678A>G (TTN) XP_016860310.1:p.Glu23893Gly
XM_017004822.1:c.68720A>G (TTN) XP_016860311.1:p.Glu22907Gly
XM_017004823.1:c.50336A>G (TTN) XP_016860312.1:p.Glu16779Gly
XM_024453094.1:c.71831A>G (TTN) XP_024308862.1:p.Glu23944Gly
XM_024453095.1:c.71828A>G (TTN) XP_024308863.1:p.Glu23943Gly
XM_024453096.1:c.71261A>G (TTN) XP_024308864.1:p.Glu23754Gly
XM_024453097.1:c.68603A>G (TTN) XP_024308865.1:p.Glu22868Gly
XM_024453098.1:c.68522A>G (TTN) XP_024308866.1:p.Glu22841Gly
XM_024453099.1:c.50285A>G (TTN) XP_024308867.1:p.Glu16762Gly
XM_024453100.1:c.40139A>G (TTN) XP_024308868.1:p.Glu13380Gly