Canonical Allele Identifier: CA349483676

Linked Data

dbSNP Id: rs2050114744

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591132T>C , CM000664.2:g.178591132T>C GRCh38
NC_000002.11:g.179455859T>C , CM000664.1:g.179455859T>C GRCh37
NC_000002.10:g.179164105T>C NCBI36
NG_011618.3:g.244671A>G , LRG_391:g.244671A>G
NG_051363.1:g.73306T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52889A>G (TTN) ENSP00000343764.6:p.Asp17630Gly
ENST00000342175.11:c.33974A>G (TTN) ENSP00000340554.6:p.Asp11325Gly
ENST00000359218.10:c.33773A>G (TTN) ENSP00000352154.5:p.Asp11258Gly
ENST00000342175.10:c.33974A>G (TTN) ENSP00000340554.6:p.Asp11325Gly
ENST00000342992.10:c.52889A>G (TTN) ENSP00000343764.6:p.Asp17630Gly
ENST00000359218.9:c.33773A>G (TTN) ENSP00000352154.5:p.Asp11258Gly
ENST00000460472.6:c.33398A>G (TTN) ENSP00000434586.1:p.Asp11133Gly
ENST00000589042.5:c.60593A>G (TTN) MANE Select ENSP00000467141.1:p.Asp20198Gly
ENST00000591111.5:c.55670A>G (TTN) ENSP00000465570.1:p.Asp18557Gly
ENST00000615779.4:c.55670A>G (TTN) ENSP00000483597.1:p.Asp18557Gly
NM_001256850.1:c.55670A>G (TTN) NP_001243779.1:p.Asp18557Gly
NM_001267550.2:c.60593A>G (TTN) MANE Select NP_001254479.2:p.Asp20198Gly
NM_003319.4:c.33398A>G (TTN) NP_003310.4:p.Asp11133Gly
NM_133378.4:c.52889A>G (TTN) NP_596869.4:p.Asp17630Gly
NM_133432.3:c.33773A>G (TTN) NP_597676.3:p.Asp11258Gly
NM_133437.4:c.33974A>G (TTN) NP_597681.4:p.Asp11325Gly
NR_038271.1:n.597-6464T>C (TTN-AS1)
NR_038272.1:n.3189-7T>C (TTN-AS1)
XM_011511729.1:c.59690A>G (TTN) XP_011510031.1:p.Asp19897Gly
XM_011511730.1:c.33584A>G (TTN) XP_011510032.1:p.Asp11195Gly
XM_011511731.1:c.33443A>G (TTN) XP_011510033.1:p.Asp11148Gly
XM_017004819.1:c.59486A>G (TTN) XP_016860308.1:p.Asp19829Gly
XM_017004820.1:c.54884A>G (TTN) XP_016860309.1:p.Asp18295Gly
XM_017004821.1:c.54881A>G (TTN) XP_016860310.1:p.Asp18294Gly
XM_017004822.1:c.51923A>G (TTN) XP_016860311.1:p.Asp17308Gly
XM_017004823.1:c.33539A>G (TTN) XP_016860312.1:p.Asp11180Gly
XM_024453094.1:c.55034A>G (TTN) XP_024308862.1:p.Asp18345Gly
XM_024453095.1:c.55031A>G (TTN) XP_024308863.1:p.Asp18344Gly
XM_024453096.1:c.54464A>G (TTN) XP_024308864.1:p.Asp18155Gly
XM_024453097.1:c.51806A>G (TTN) XP_024308865.1:p.Asp17269Gly
XM_024453098.1:c.51725A>G (TTN) XP_024308866.1:p.Asp17242Gly
XM_024453099.1:c.33488A>G (TTN) XP_024308867.1:p.Asp11163Gly
XM_024453100.1:c.23342A>G (TTN) XP_024308868.1:p.Asp7781Gly