Canonical Allele Identifier: CA349585629

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178609971G>C , CM000664.2:g.178609971G>C GRCh38
NC_000002.11:g.179474698G>C , CM000664.1:g.179474698G>C GRCh37
NC_000002.10:g.179182943G>C NCBI36
NG_011618.3:g.225832C>G , LRG_391:g.225832C>G
NG_051363.1:g.92145G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.43748C>G (TTN) ENSP00000343764.6:p.Pro14583Arg
ENST00000342175.11:c.24833C>G (TTN) ENSP00000340554.6:p.Pro8278Arg
ENST00000359218.10:c.24632C>G (TTN) ENSP00000352154.5:p.Pro8211Arg
ENST00000342175.10:c.24833C>G (TTN) ENSP00000340554.6:p.Pro8278Arg
ENST00000342992.10:c.43748C>G (TTN) ENSP00000343764.6:p.Pro14583Arg
ENST00000359218.9:c.24632C>G (TTN) ENSP00000352154.5:p.Pro8211Arg
ENST00000460472.6:c.24257C>G (TTN) ENSP00000434586.1:p.Pro8086Arg
ENST00000589042.5:c.51452C>G (TTN) MANE Select ENSP00000467141.1:p.Pro17151Arg
ENST00000591111.5:c.46529C>G (TTN) ENSP00000465570.1:p.Pro15510Arg
ENST00000615779.4:c.46529C>G (TTN) ENSP00000483597.1:p.Pro15510Arg
NM_001256850.1:c.46529C>G (TTN) NP_001243779.1:p.Pro15510Arg
NM_001267550.2:c.51452C>G (TTN) MANE Select NP_001254479.2:p.Pro17151Arg
NM_003319.4:c.24257C>G (TTN) NP_003310.4:p.Pro8086Arg
NM_133378.4:c.43748C>G (TTN) NP_596869.4:p.Pro14583Arg
NM_133432.3:c.24632C>G (TTN) NP_597676.3:p.Pro8211Arg
NM_133437.4:c.24833C>G (TTN) NP_597681.4:p.Pro8278Arg
NR_038271.1:n.782+1705G>C (TTN-AS1)
XM_011511729.1:c.50549C>G (TTN) XP_011510031.1:p.Pro16850Arg
XM_011511730.1:c.24443C>G (TTN) XP_011510032.1:p.Pro8148Arg
XM_011511731.1:c.24302C>G (TTN) XP_011510033.1:p.Pro8101Arg
XM_017004819.1:c.50345C>G (TTN) XP_016860308.1:p.Pro16782Arg
XM_017004820.1:c.45743C>G (TTN) XP_016860309.1:p.Pro15248Arg
XM_017004821.1:c.45740C>G (TTN) XP_016860310.1:p.Pro15247Arg
XM_017004822.1:c.42782C>G (TTN) XP_016860311.1:p.Pro14261Arg
XM_017004823.1:c.24398C>G (TTN) XP_016860312.1:p.Pro8133Arg
XM_024453094.1:c.45893C>G (TTN) XP_024308862.1:p.Pro15298Arg
XM_024453095.1:c.45890C>G (TTN) XP_024308863.1:p.Pro15297Arg
XM_024453096.1:c.45323C>G (TTN) XP_024308864.1:p.Pro15108Arg
XM_024453097.1:c.42665C>G (TTN) XP_024308865.1:p.Pro14222Arg
XM_024453098.1:c.42584C>G (TTN) XP_024308866.1:p.Pro14195Arg
XM_024453099.1:c.24347C>G (TTN) XP_024308867.1:p.Pro8116Arg
XM_024453100.1:c.14201C>G (TTN) XP_024308868.1:p.Pro4734Arg