Canonical Allele Identifier: CA349551949

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178560522A>C , CM000664.2:g.178560522A>C GRCh38
NC_000002.11:g.179425249A>C , CM000664.1:g.179425249A>C GRCh37
NC_000002.10:g.179133495A>C NCBI36
NG_011618.3:g.275281T>G , LRG_391:g.275281T>G
NG_051363.1:g.42696A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.77906T>G (TTN) ENSP00000343764.6:p.Leu25969Arg
ENST00000342175.11:c.58991T>G (TTN) ENSP00000340554.6:p.Leu19664Arg
ENST00000359218.10:c.58790T>G (TTN) ENSP00000352154.5:p.Leu19597Arg
ENST00000342175.10:c.58991T>G (TTN) ENSP00000340554.6:p.Leu19664Arg
ENST00000342992.10:c.77906T>G (TTN) ENSP00000343764.6:p.Leu25969Arg
ENST00000359218.9:c.58790T>G (TTN) ENSP00000352154.5:p.Leu19597Arg
ENST00000460472.6:c.58415T>G (TTN) ENSP00000434586.1:p.Leu19472Arg
ENST00000589042.5:c.85610T>G (TTN) MANE Select ENSP00000467141.1:p.Leu28537Arg
ENST00000591111.5:c.80687T>G (TTN) ENSP00000465570.1:p.Leu26896Arg
ENST00000615779.4:c.80687T>G (TTN) ENSP00000483597.1:p.Leu26896Arg
NM_001256850.1:c.80687T>G (TTN) NP_001243779.1:p.Leu26896Arg
NM_001267550.2:c.85610T>G (TTN) MANE Select NP_001254479.2:p.Leu28537Arg
NM_003319.4:c.58415T>G (TTN) NP_003310.4:p.Leu19472Arg
NM_133378.4:c.77906T>G (TTN) NP_596869.4:p.Leu25969Arg
NM_133432.3:c.58790T>G (TTN) NP_597676.3:p.Leu19597Arg
NM_133437.4:c.58991T>G (TTN) NP_597681.4:p.Leu19664Arg
NR_038271.1:n.447-10778A>C (TTN-AS1)
NR_038272.1:n.2043+18161A>C (TTN-AS1)
XM_011511729.1:c.84707T>G (TTN) XP_011510031.1:p.Leu28236Arg
XM_011511730.1:c.58601T>G (TTN) XP_011510032.1:p.Leu19534Arg
XM_011511731.1:c.58460T>G (TTN) XP_011510033.1:p.Leu19487Arg
XM_017004819.1:c.84503T>G (TTN) XP_016860308.1:p.Leu28168Arg
XM_017004820.1:c.79901T>G (TTN) XP_016860309.1:p.Leu26634Arg
XM_017004821.1:c.79898T>G (TTN) XP_016860310.1:p.Leu26633Arg
XM_017004822.1:c.76940T>G (TTN) XP_016860311.1:p.Leu25647Arg
XM_017004823.1:c.58556T>G (TTN) XP_016860312.1:p.Leu19519Arg
XM_024453094.1:c.80051T>G (TTN) XP_024308862.1:p.Leu26684Arg
XM_024453095.1:c.80048T>G (TTN) XP_024308863.1:p.Leu26683Arg
XM_024453096.1:c.79481T>G (TTN) XP_024308864.1:p.Leu26494Arg
XM_024453097.1:c.76823T>G (TTN) XP_024308865.1:p.Leu25608Arg
XM_024453098.1:c.76742T>G (TTN) XP_024308866.1:p.Leu25581Arg
XM_024453099.1:c.58505T>G (TTN) XP_024308867.1:p.Leu19502Arg
XM_024453100.1:c.48359T>G (TTN) XP_024308868.1:p.Leu16120Arg