Canonical Allele Identifier: CA349621001

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178570452T>C , CM000664.2:g.178570452T>C GRCh38
NC_000002.11:g.179435179T>C , CM000664.1:g.179435179T>C GRCh37
NC_000002.10:g.179143425T>C NCBI36
NG_011618.3:g.265351A>G , LRG_391:g.265351A>G
NG_051363.1:g.52626T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.67976A>G (TTN) ENSP00000343764.6:p.Lys22659Arg
ENST00000342175.11:c.49061A>G (TTN) ENSP00000340554.6:p.Lys16354Arg
ENST00000359218.10:c.48860A>G (TTN) ENSP00000352154.5:p.Lys16287Arg
ENST00000342175.10:c.49061A>G (TTN) ENSP00000340554.6:p.Lys16354Arg
ENST00000342992.10:c.67976A>G (TTN) ENSP00000343764.6:p.Lys22659Arg
ENST00000359218.9:c.48860A>G (TTN) ENSP00000352154.5:p.Lys16287Arg
ENST00000460472.6:c.48485A>G (TTN) ENSP00000434586.1:p.Lys16162Arg
ENST00000589042.5:c.75680A>G (TTN) MANE Select ENSP00000467141.1:p.Lys25227Arg
ENST00000591111.5:c.70757A>G (TTN) ENSP00000465570.1:p.Lys23586Arg
ENST00000615779.4:c.70757A>G (TTN) ENSP00000483597.1:p.Lys23586Arg
NM_001256850.1:c.70757A>G (TTN) NP_001243779.1:p.Lys23586Arg
NM_001267550.2:c.75680A>G (TTN) MANE Select NP_001254479.2:p.Lys25227Arg
NM_003319.4:c.48485A>G (TTN) NP_003310.4:p.Lys16162Arg
NM_133378.4:c.67976A>G (TTN) NP_596869.4:p.Lys22659Arg
NM_133432.3:c.48860A>G (TTN) NP_597676.3:p.Lys16287Arg
NM_133437.4:c.49061A>G (TTN) NP_597681.4:p.Lys16354Arg
NR_038271.1:n.447-848T>C (TTN-AS1)
NR_038272.1:n.2044-12120T>C (TTN-AS1)
XM_011511729.1:c.74777A>G (TTN) XP_011510031.1:p.Lys24926Arg
XM_011511730.1:c.48671A>G (TTN) XP_011510032.1:p.Lys16224Arg
XM_011511731.1:c.48530A>G (TTN) XP_011510033.1:p.Lys16177Arg
XM_017004819.1:c.74573A>G (TTN) XP_016860308.1:p.Lys24858Arg
XM_017004820.1:c.69971A>G (TTN) XP_016860309.1:p.Lys23324Arg
XM_017004821.1:c.69968A>G (TTN) XP_016860310.1:p.Lys23323Arg
XM_017004822.1:c.67010A>G (TTN) XP_016860311.1:p.Lys22337Arg
XM_017004823.1:c.48626A>G (TTN) XP_016860312.1:p.Lys16209Arg
XM_024453094.1:c.70121A>G (TTN) XP_024308862.1:p.Lys23374Arg
XM_024453095.1:c.70118A>G (TTN) XP_024308863.1:p.Lys23373Arg
XM_024453096.1:c.69551A>G (TTN) XP_024308864.1:p.Lys23184Arg
XM_024453097.1:c.66893A>G (TTN) XP_024308865.1:p.Lys22298Arg
XM_024453098.1:c.66812A>G (TTN) XP_024308866.1:p.Lys22271Arg
XM_024453099.1:c.48575A>G (TTN) XP_024308867.1:p.Lys16192Arg
XM_024453100.1:c.38429A>G (TTN) XP_024308868.1:p.Lys12810Arg