Canonical Allele Identifier: CA349451191

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543923T>C , CM000664.2:g.178543923T>C GRCh38
NC_000002.11:g.179408650T>C , CM000664.1:g.179408650T>C GRCh37
NC_000002.10:g.179116896T>C NCBI36
NG_011618.3:g.291880A>G , LRG_391:g.291880A>G
NG_051363.1:g.26097T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88517A>G (TTN) ENSP00000343764.6:p.Lys29506Arg
ENST00000342175.11:c.69602A>G (TTN) ENSP00000340554.6:p.Lys23201Arg
ENST00000359218.10:c.69401A>G (TTN) ENSP00000352154.5:p.Lys23134Arg
ENST00000342175.10:c.69602A>G (TTN) ENSP00000340554.6:p.Lys23201Arg
ENST00000342992.10:c.88517A>G (TTN) ENSP00000343764.6:p.Lys29506Arg
ENST00000359218.9:c.69401A>G (TTN) ENSP00000352154.5:p.Lys23134Arg
ENST00000460472.6:c.69026A>G (TTN) ENSP00000434586.1:p.Lys23009Arg
ENST00000589042.5:c.96221A>G (TTN) MANE Select ENSP00000467141.1:p.Lys32074Arg
ENST00000591111.5:c.91298A>G (TTN) ENSP00000465570.1:p.Lys30433Arg
ENST00000615779.4:c.91298A>G (TTN) ENSP00000483597.1:p.Lys30433Arg
NM_001256850.1:c.91298A>G (TTN) NP_001243779.1:p.Lys30433Arg
NM_001267550.2:c.96221A>G (TTN) MANE Select NP_001254479.2:p.Lys32074Arg
NM_003319.4:c.69026A>G (TTN) NP_003310.4:p.Lys23009Arg
NM_133378.4:c.88517A>G (TTN) NP_596869.4:p.Lys29506Arg
NM_133432.3:c.69401A>G (TTN) NP_597676.3:p.Lys23134Arg
NM_133437.4:c.69602A>G (TTN) NP_597681.4:p.Lys23201Arg
NR_038271.1:n.446+20287T>C (TTN-AS1)
NR_038272.1:n.2043+1562T>C (TTN-AS1)
XM_011511729.1:c.95318A>G (TTN) XP_011510031.1:p.Lys31773Arg
XM_011511730.1:c.69212A>G (TTN) XP_011510032.1:p.Lys23071Arg
XM_011511731.1:c.69071A>G (TTN) XP_011510033.1:p.Lys23024Arg
XM_017004819.1:c.95114A>G (TTN) XP_016860308.1:p.Lys31705Arg
XM_017004820.1:c.90512A>G (TTN) XP_016860309.1:p.Lys30171Arg
XM_017004821.1:c.90509A>G (TTN) XP_016860310.1:p.Lys30170Arg
XM_017004822.1:c.87551A>G (TTN) XP_016860311.1:p.Lys29184Arg
XM_017004823.1:c.69167A>G (TTN) XP_016860312.1:p.Lys23056Arg
XM_024453094.1:c.90662A>G (TTN) XP_024308862.1:p.Lys30221Arg
XM_024453095.1:c.90659A>G (TTN) XP_024308863.1:p.Lys30220Arg
XM_024453096.1:c.90092A>G (TTN) XP_024308864.1:p.Lys30031Arg
XM_024453097.1:c.87434A>G (TTN) XP_024308865.1:p.Lys29145Arg
XM_024453098.1:c.87353A>G (TTN) XP_024308866.1:p.Lys29118Arg
XM_024453099.1:c.69116A>G (TTN) XP_024308867.1:p.Lys23039Arg
XM_024453100.1:c.58970A>G (TTN) XP_024308868.1:p.Lys19657Arg