Canonical Allele Identifier: CA349593128
Gene: TTN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178733845C>G , CM000664.2:g.178733845C>G GRCh38
NC_000002.11:g.179598572C>G , CM000664.1:g.179598572C>G GRCh37
NC_000002.10:g.179306817C>G NCBI36
NG_011618.3:g.101958G>C , LRG_391:g.101958G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.11812G>C ENSP00000343764.6:p.Gly3938Arg
ENST00000342175.11:c.13858+4237G>C ENSP00000340554.6:n.13858+4237G>C
ENST00000359218.10:c.13657+4237G>C ENSP00000352154.5:n.13657+4237G>C
ENST00000342175.10:c.13858+4237G>C ENSP00000340554.6:n.13858+4237G>C
ENST00000342992.10:c.11812G>C ENSP00000343764.6:p.Gly3938Arg
ENST00000359218.9:c.13657+4237G>C ENSP00000352154.5:n.13657+4237G>C
ENST00000460472.6:c.13282+4237G>C ENSP00000434586.1:n.13282+4237G>C
ENST00000589042.5:c.15544G>C MANE Select ENSP00000467141.1:p.Gly5182Arg
ENST00000591111.5:c.14593G>C ENSP00000465570.1:p.Gly4865Arg
ENST00000615779.4:c.14593G>C ENSP00000483597.1:p.Gly4865Arg
NM_001256850.1:c.14593G>C NP_001243779.1:p.Gly4865Arg
NM_001267550.2:c.15544G>C MANE Select NP_001254479.2:p.Gly5182Arg
NM_003319.4:c.13282+4237G>C NP_003310.4:n.13282+4237G>C
NM_133378.4:c.11812G>C NP_596869.4:p.Gly3938Arg
NM_133432.3:c.13657+4237G>C NP_597676.3:n.13657+4237G>C
NM_133437.4:c.13858+4237G>C NP_597681.4:n.13858+4237G>C
XM_011511729.1:c.14641G>C XP_011510031.1:p.Gly4881Arg
XM_011511730.1:c.13468+4237G>C XP_011510032.1:n.13468+4237G>C
XM_011511731.1:c.13327+4237G>C XP_011510033.1:n.13327+4237G>C
XM_017004819.1:c.14596G>C XP_016860308.1:p.Gly4866Arg
XM_017004820.1:c.11815G>C XP_016860309.1:p.Gly3939Arg
XM_017004821.1:c.11812G>C XP_016860310.1:p.Gly3938Arg
XM_017004822.1:c.14596G>C XP_016860311.1:p.Gly4866Arg
XM_017004823.1:c.13423+4237G>C XP_016860312.1:n.13423+4237G>C
XM_024453094.1:c.14596G>C XP_024308862.1:p.Gly4866Arg
XM_024453095.1:c.14596G>C XP_024308863.1:p.Gly4866Arg
XM_024453096.1:c.14596G>C XP_024308864.1:p.Gly4866Arg
XM_024453097.1:c.14596G>C XP_024308865.1:p.Gly4866Arg
XM_024453098.1:c.14596G>C XP_024308866.1:p.Gly4866Arg
XM_024453099.1:c.13423+4237G>C XP_024308867.1:n.13423+4237G>C