Canonical Allele Identifier: CA349610595
Gene: TTN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178740487C>G , CM000664.2:g.178740487C>G GRCh38
NC_000002.11:g.179605214C>G , CM000664.1:g.179605214C>G GRCh37
NC_000002.10:g.179313459C>G NCBI36
NG_011618.3:g.95316G>C , LRG_391:g.95316G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.10361-2127G>C ENSP00000343764.6:n.10361-2127G>C
ENST00000342175.11:c.12233G>C ENSP00000340554.6:p.Arg4078Thr
ENST00000359218.10:c.12032G>C ENSP00000352154.5:p.Arg4011Thr
ENST00000342175.10:c.12233G>C ENSP00000340554.6:p.Arg4078Thr
ENST00000342992.10:c.10361-2127G>C ENSP00000343764.6:n.10361-2127G>C
ENST00000359218.9:c.12032G>C ENSP00000352154.5:p.Arg4011Thr
ENST00000460472.6:c.11657G>C ENSP00000434586.1:p.Arg3886Thr
ENST00000589042.5:c.12746G>C MANE Select ENSP00000467141.1:p.Arg4249Thr
ENST00000591111.5:c.11795G>C ENSP00000465570.1:p.Arg3932Thr
ENST00000615779.4:c.11795G>C ENSP00000483597.1:p.Arg3932Thr
NM_001256850.1:c.11795G>C NP_001243779.1:p.Arg3932Thr
NM_001267550.2:c.12746G>C MANE Select NP_001254479.2:p.Arg4249Thr
NM_003319.4:c.11657G>C NP_003310.4:p.Arg3886Thr
NM_133378.4:c.10361-2127G>C NP_596869.4:n.10361-2127G>C
NM_133432.3:c.12032G>C NP_597676.3:p.Arg4011Thr
NM_133437.4:c.12233G>C NP_597681.4:p.Arg4078Thr
XM_011511729.1:c.11843G>C XP_011510031.1:p.Arg3948Thr
XM_011511730.1:c.11843G>C XP_011510032.1:p.Arg3948Thr
XM_011511731.1:c.11702G>C XP_011510033.1:p.Arg3901Thr
XM_017004819.1:c.11798G>C XP_016860308.1:p.Arg3933Thr
XM_017004820.1:c.10364-2127G>C XP_016860309.1:n.10364-2127G>C
XM_017004821.1:c.10361-2127G>C XP_016860310.1:n.10361-2127G>C
XM_017004822.1:c.11798G>C XP_016860311.1:p.Arg3933Thr
XM_017004823.1:c.11798G>C XP_016860312.1:p.Arg3933Thr
XM_024453094.1:c.11798G>C XP_024308862.1:p.Arg3933Thr
XM_024453095.1:c.11798G>C XP_024308863.1:p.Arg3933Thr
XM_024453096.1:c.11798G>C XP_024308864.1:p.Arg3933Thr
XM_024453097.1:c.11798G>C XP_024308865.1:p.Arg3933Thr
XM_024453098.1:c.11798G>C XP_024308866.1:p.Arg3933Thr
XM_024453099.1:c.11798G>C XP_024308867.1:p.Arg3933Thr