Canonical Allele Identifier: CA349501146

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551060G>T , CM000664.2:g.178551060G>T GRCh38
NC_000002.11:g.179415787G>T , CM000664.1:g.179415787G>T GRCh37
NC_000002.10:g.179124033G>T NCBI36
NG_011618.3:g.284743C>A , LRG_391:g.284743C>A
NG_051363.1:g.33234G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.83767C>A (TTN) ENSP00000343764.6:p.Arg27923Ser
ENST00000342175.11:c.64852C>A (TTN) ENSP00000340554.6:p.Arg21618Ser
ENST00000359218.10:c.64651C>A (TTN) ENSP00000352154.5:p.Arg21551Ser
ENST00000342175.10:c.64852C>A (TTN) ENSP00000340554.6:p.Arg21618Ser
ENST00000342992.10:c.83767C>A (TTN) ENSP00000343764.6:p.Arg27923Ser
ENST00000359218.9:c.64651C>A (TTN) ENSP00000352154.5:p.Arg21551Ser
ENST00000460472.6:c.64276C>A (TTN) ENSP00000434586.1:p.Arg21426Ser
ENST00000589042.5:c.91471C>A (TTN) MANE Select ENSP00000467141.1:p.Arg30491Ser
ENST00000591111.5:c.86548C>A (TTN) ENSP00000465570.1:p.Arg28850Ser
ENST00000615779.4:c.86548C>A (TTN) ENSP00000483597.1:p.Arg28850Ser
NM_001256850.1:c.86548C>A (TTN) NP_001243779.1:p.Arg28850Ser
NM_001267550.2:c.91471C>A (TTN) MANE Select NP_001254479.2:p.Arg30491Ser
NM_003319.4:c.64276C>A (TTN) NP_003310.4:p.Arg21426Ser
NM_133378.4:c.83767C>A (TTN) NP_596869.4:p.Arg27923Ser
NM_133432.3:c.64651C>A (TTN) NP_597676.3:p.Arg21551Ser
NM_133437.4:c.64852C>A (TTN) NP_597681.4:p.Arg21618Ser
NR_038271.1:n.447-20240G>T (TTN-AS1)
NR_038272.1:n.2043+8699G>T (TTN-AS1)
XM_011511729.1:c.90568C>A (TTN) XP_011510031.1:p.Arg30190Ser
XM_011511730.1:c.64462C>A (TTN) XP_011510032.1:p.Arg21488Ser
XM_011511731.1:c.64321C>A (TTN) XP_011510033.1:p.Arg21441Ser
XM_017004819.1:c.90364C>A (TTN) XP_016860308.1:p.Arg30122Ser
XM_017004820.1:c.85762C>A (TTN) XP_016860309.1:p.Arg28588Ser
XM_017004821.1:c.85759C>A (TTN) XP_016860310.1:p.Arg28587Ser
XM_017004822.1:c.82801C>A (TTN) XP_016860311.1:p.Arg27601Ser
XM_017004823.1:c.64417C>A (TTN) XP_016860312.1:p.Arg21473Ser
XM_024453094.1:c.85912C>A (TTN) XP_024308862.1:p.Arg28638Ser
XM_024453095.1:c.85909C>A (TTN) XP_024308863.1:p.Arg28637Ser
XM_024453096.1:c.85342C>A (TTN) XP_024308864.1:p.Arg28448Ser
XM_024453097.1:c.82684C>A (TTN) XP_024308865.1:p.Arg27562Ser
XM_024453098.1:c.82603C>A (TTN) XP_024308866.1:p.Arg27535Ser
XM_024453099.1:c.64366C>A (TTN) XP_024308867.1:p.Arg21456Ser
XM_024453100.1:c.54220C>A (TTN) XP_024308868.1:p.Arg18074Ser