Canonical Allele Identifier: CA349451021

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543903C>T , CM000664.2:g.178543903C>T GRCh38
NC_000002.11:g.179408630C>T , CM000664.1:g.179408630C>T GRCh37
NC_000002.10:g.179116876C>T NCBI36
NG_011618.3:g.291900G>A , LRG_391:g.291900G>A
NG_051363.1:g.26077C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88537G>A (TTN) ENSP00000343764.6:p.Gly29513Arg
ENST00000342175.11:c.69622G>A (TTN) ENSP00000340554.6:p.Gly23208Arg
ENST00000359218.10:c.69421G>A (TTN) ENSP00000352154.5:p.Gly23141Arg
ENST00000342175.10:c.69622G>A (TTN) ENSP00000340554.6:p.Gly23208Arg
ENST00000342992.10:c.88537G>A (TTN) ENSP00000343764.6:p.Gly29513Arg
ENST00000359218.9:c.69421G>A (TTN) ENSP00000352154.5:p.Gly23141Arg
ENST00000460472.6:c.69046G>A (TTN) ENSP00000434586.1:p.Gly23016Arg
ENST00000589042.5:c.96241G>A (TTN) MANE Select ENSP00000467141.1:p.Gly32081Arg
ENST00000591111.5:c.91318G>A (TTN) ENSP00000465570.1:p.Gly30440Arg
ENST00000615779.4:c.91318G>A (TTN) ENSP00000483597.1:p.Gly30440Arg
NM_001256850.1:c.91318G>A (TTN) NP_001243779.1:p.Gly30440Arg
NM_001267550.2:c.96241G>A (TTN) MANE Select NP_001254479.2:p.Gly32081Arg
NM_003319.4:c.69046G>A (TTN) NP_003310.4:p.Gly23016Arg
NM_133378.4:c.88537G>A (TTN) NP_596869.4:p.Gly29513Arg
NM_133432.3:c.69421G>A (TTN) NP_597676.3:p.Gly23141Arg
NM_133437.4:c.69622G>A (TTN) NP_597681.4:p.Gly23208Arg
NR_038271.1:n.446+20267C>T (TTN-AS1)
NR_038272.1:n.2043+1542C>T (TTN-AS1)
XM_011511729.1:c.95338G>A (TTN) XP_011510031.1:p.Gly31780Arg
XM_011511730.1:c.69232G>A (TTN) XP_011510032.1:p.Gly23078Arg
XM_011511731.1:c.69091G>A (TTN) XP_011510033.1:p.Gly23031Arg
XM_017004819.1:c.95134G>A (TTN) XP_016860308.1:p.Gly31712Arg
XM_017004820.1:c.90532G>A (TTN) XP_016860309.1:p.Gly30178Arg
XM_017004821.1:c.90529G>A (TTN) XP_016860310.1:p.Gly30177Arg
XM_017004822.1:c.87571G>A (TTN) XP_016860311.1:p.Gly29191Arg
XM_017004823.1:c.69187G>A (TTN) XP_016860312.1:p.Gly23063Arg
XM_024453094.1:c.90682G>A (TTN) XP_024308862.1:p.Gly30228Arg
XM_024453095.1:c.90679G>A (TTN) XP_024308863.1:p.Gly30227Arg
XM_024453096.1:c.90112G>A (TTN) XP_024308864.1:p.Gly30038Arg
XM_024453097.1:c.87454G>A (TTN) XP_024308865.1:p.Gly29152Arg
XM_024453098.1:c.87373G>A (TTN) XP_024308866.1:p.Gly29125Arg
XM_024453099.1:c.69136G>A (TTN) XP_024308867.1:p.Gly23046Arg
XM_024453100.1:c.58990G>A (TTN) XP_024308868.1:p.Gly19664Arg