Canonical Allele Identifier: CA349479967

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591005A>C , CM000664.2:g.178591005A>C GRCh38
NC_000002.11:g.179455732A>C , CM000664.1:g.179455732A>C GRCh37
NC_000002.10:g.179163978A>C NCBI36
NG_011618.3:g.244798T>G , LRG_391:g.244798T>G
NG_051363.1:g.73179A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.53016T>G (TTN) ENSP00000343764.6:p.Cys17672Trp
ENST00000342175.11:c.34101T>G (TTN) ENSP00000340554.6:p.Cys11367Trp
ENST00000359218.10:c.33900T>G (TTN) ENSP00000352154.5:p.Cys11300Trp
ENST00000342175.10:c.34101T>G (TTN) ENSP00000340554.6:p.Cys11367Trp
ENST00000342992.10:c.53016T>G (TTN) ENSP00000343764.6:p.Cys17672Trp
ENST00000359218.9:c.33900T>G (TTN) ENSP00000352154.5:p.Cys11300Trp
ENST00000460472.6:c.33525T>G (TTN) ENSP00000434586.1:p.Cys11175Trp
ENST00000589042.5:c.60720T>G (TTN) MANE Select ENSP00000467141.1:p.Cys20240Trp
ENST00000591111.5:c.55797T>G (TTN) ENSP00000465570.1:p.Cys18599Trp
ENST00000615779.4:c.55797T>G (TTN) ENSP00000483597.1:p.Cys18599Trp
NM_001256850.1:c.55797T>G (TTN) NP_001243779.1:p.Cys18599Trp
NM_001267550.2:c.60720T>G (TTN) MANE Select NP_001254479.2:p.Cys20240Trp
NM_003319.4:c.33525T>G (TTN) NP_003310.4:p.Cys11175Trp
NM_133378.4:c.53016T>G (TTN) NP_596869.4:p.Cys17672Trp
NM_133432.3:c.33900T>G (TTN) NP_597676.3:p.Cys11300Trp
NM_133437.4:c.34101T>G (TTN) NP_597681.4:p.Cys11367Trp
NR_038271.1:n.597-6591A>C (TTN-AS1)
NR_038272.1:n.3189-134A>C (TTN-AS1)
XM_011511729.1:c.59817T>G (TTN) XP_011510031.1:p.Cys19939Trp
XM_011511730.1:c.33711T>G (TTN) XP_011510032.1:p.Cys11237Trp
XM_011511731.1:c.33570T>G (TTN) XP_011510033.1:p.Cys11190Trp
XM_017004819.1:c.59613T>G (TTN) XP_016860308.1:p.Cys19871Trp
XM_017004820.1:c.55011T>G (TTN) XP_016860309.1:p.Cys18337Trp
XM_017004821.1:c.55008T>G (TTN) XP_016860310.1:p.Cys18336Trp
XM_017004822.1:c.52050T>G (TTN) XP_016860311.1:p.Cys17350Trp
XM_017004823.1:c.33666T>G (TTN) XP_016860312.1:p.Cys11222Trp
XM_024453094.1:c.55161T>G (TTN) XP_024308862.1:p.Cys18387Trp
XM_024453095.1:c.55158T>G (TTN) XP_024308863.1:p.Cys18386Trp
XM_024453096.1:c.54591T>G (TTN) XP_024308864.1:p.Cys18197Trp
XM_024453097.1:c.51933T>G (TTN) XP_024308865.1:p.Cys17311Trp
XM_024453098.1:c.51852T>G (TTN) XP_024308866.1:p.Cys17284Trp
XM_024453099.1:c.33615T>G (TTN) XP_024308867.1:p.Cys11205Trp
XM_024453100.1:c.23469T>G (TTN) XP_024308868.1:p.Cys7823Trp