Canonical Allele Identifier: CA349496770

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593073A>C , CM000664.2:g.178593073A>C GRCh38
NC_000002.11:g.179457800A>C , CM000664.1:g.179457800A>C GRCh37
NC_000002.10:g.179166046A>C NCBI36
NG_011618.3:g.242730T>G , LRG_391:g.242730T>G
NG_051363.1:g.75247A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51342T>G (TTN) ENSP00000343764.6:p.Ser17114Arg
ENST00000342175.11:c.32427T>G (TTN) ENSP00000340554.6:p.Ser10809Arg
ENST00000359218.10:c.32226T>G (TTN) ENSP00000352154.5:p.Ser10742Arg
ENST00000342175.10:c.32427T>G (TTN) ENSP00000340554.6:p.Ser10809Arg
ENST00000342992.10:c.51342T>G (TTN) ENSP00000343764.6:p.Ser17114Arg
ENST00000359218.9:c.32226T>G (TTN) ENSP00000352154.5:p.Ser10742Arg
ENST00000460472.6:c.31851T>G (TTN) ENSP00000434586.1:p.Ser10617Arg
ENST00000589042.5:c.59046T>G (TTN) MANE Select ENSP00000467141.1:p.Ser19682Arg
ENST00000591111.5:c.54123T>G (TTN) ENSP00000465570.1:p.Ser18041Arg
ENST00000615779.4:c.54123T>G (TTN) ENSP00000483597.1:p.Ser18041Arg
NM_001256850.1:c.54123T>G (TTN) NP_001243779.1:p.Ser18041Arg
NM_001267550.2:c.59046T>G (TTN) MANE Select NP_001254479.2:p.Ser19682Arg
NM_003319.4:c.31851T>G (TTN) NP_003310.4:p.Ser10617Arg
NM_133378.4:c.51342T>G (TTN) NP_596869.4:p.Ser17114Arg
NM_133432.3:c.32226T>G (TTN) NP_597676.3:p.Ser10742Arg
NM_133437.4:c.32427T>G (TTN) NP_597681.4:p.Ser10809Arg
NR_038271.1:n.597-4523A>C (TTN-AS1)
NR_038272.1:n.3364+1759A>C (TTN-AS1)
XM_011511729.1:c.58143T>G (TTN) XP_011510031.1:p.Ser19381Arg
XM_011511730.1:c.32037T>G (TTN) XP_011510032.1:p.Ser10679Arg
XM_011511731.1:c.31896T>G (TTN) XP_011510033.1:p.Ser10632Arg
XM_017004819.1:c.57939T>G (TTN) XP_016860308.1:p.Ser19313Arg
XM_017004820.1:c.53337T>G (TTN) XP_016860309.1:p.Ser17779Arg
XM_017004821.1:c.53334T>G (TTN) XP_016860310.1:p.Ser17778Arg
XM_017004822.1:c.50376T>G (TTN) XP_016860311.1:p.Ser16792Arg
XM_017004823.1:c.31992T>G (TTN) XP_016860312.1:p.Ser10664Arg
XM_024453094.1:c.53487T>G (TTN) XP_024308862.1:p.Ser17829Arg
XM_024453095.1:c.53484T>G (TTN) XP_024308863.1:p.Ser17828Arg
XM_024453096.1:c.52917T>G (TTN) XP_024308864.1:p.Ser17639Arg
XM_024453097.1:c.50259T>G (TTN) XP_024308865.1:p.Ser16753Arg
XM_024453098.1:c.50178T>G (TTN) XP_024308866.1:p.Ser16726Arg
XM_024453099.1:c.31941T>G (TTN) XP_024308867.1:p.Ser10647Arg
XM_024453100.1:c.21795T>G (TTN) XP_024308868.1:p.Ser7265Arg