Canonical Allele Identifier: CA349450267

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543842T>C , CM000664.2:g.178543842T>C GRCh38
NC_000002.11:g.179408569T>C , CM000664.1:g.179408569T>C GRCh37
NC_000002.10:g.179116815T>C NCBI36
NG_011618.3:g.291961A>G , LRG_391:g.291961A>G
NG_051363.1:g.26016T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88598A>G (TTN) ENSP00000343764.6:p.Lys29533Arg
ENST00000342175.11:c.69683A>G (TTN) ENSP00000340554.6:p.Lys23228Arg
ENST00000359218.10:c.69482A>G (TTN) ENSP00000352154.5:p.Lys23161Arg
ENST00000342175.10:c.69683A>G (TTN) ENSP00000340554.6:p.Lys23228Arg
ENST00000342992.10:c.88598A>G (TTN) ENSP00000343764.6:p.Lys29533Arg
ENST00000359218.9:c.69482A>G (TTN) ENSP00000352154.5:p.Lys23161Arg
ENST00000460472.6:c.69107A>G (TTN) ENSP00000434586.1:p.Lys23036Arg
ENST00000589042.5:c.96302A>G (TTN) MANE Select ENSP00000467141.1:p.Lys32101Arg
ENST00000591111.5:c.91379A>G (TTN) ENSP00000465570.1:p.Lys30460Arg
ENST00000615779.4:c.91379A>G (TTN) ENSP00000483597.1:p.Lys30460Arg
NM_001256850.1:c.91379A>G (TTN) NP_001243779.1:p.Lys30460Arg
NM_001267550.2:c.96302A>G (TTN) MANE Select NP_001254479.2:p.Lys32101Arg
NM_003319.4:c.69107A>G (TTN) NP_003310.4:p.Lys23036Arg
NM_133378.4:c.88598A>G (TTN) NP_596869.4:p.Lys29533Arg
NM_133432.3:c.69482A>G (TTN) NP_597676.3:p.Lys23161Arg
NM_133437.4:c.69683A>G (TTN) NP_597681.4:p.Lys23228Arg
NR_038271.1:n.446+20206T>C (TTN-AS1)
NR_038272.1:n.2043+1481T>C (TTN-AS1)
XM_011511729.1:c.95399A>G (TTN) XP_011510031.1:p.Lys31800Arg
XM_011511730.1:c.69293A>G (TTN) XP_011510032.1:p.Lys23098Arg
XM_011511731.1:c.69152A>G (TTN) XP_011510033.1:p.Lys23051Arg
XM_017004819.1:c.95195A>G (TTN) XP_016860308.1:p.Lys31732Arg
XM_017004820.1:c.90593A>G (TTN) XP_016860309.1:p.Lys30198Arg
XM_017004821.1:c.90590A>G (TTN) XP_016860310.1:p.Lys30197Arg
XM_017004822.1:c.87632A>G (TTN) XP_016860311.1:p.Lys29211Arg
XM_017004823.1:c.69248A>G (TTN) XP_016860312.1:p.Lys23083Arg
XM_024453094.1:c.90743A>G (TTN) XP_024308862.1:p.Lys30248Arg
XM_024453095.1:c.90740A>G (TTN) XP_024308863.1:p.Lys30247Arg
XM_024453096.1:c.90173A>G (TTN) XP_024308864.1:p.Lys30058Arg
XM_024453097.1:c.87515A>G (TTN) XP_024308865.1:p.Lys29172Arg
XM_024453098.1:c.87434A>G (TTN) XP_024308866.1:p.Lys29145Arg
XM_024453099.1:c.69197A>G (TTN) XP_024308867.1:p.Lys23066Arg
XM_024453100.1:c.59051A>G (TTN) XP_024308868.1:p.Lys19684Arg