Canonical Allele Identifier: CA178623

Linked Data

ClinVar Variation Id: 165907
dbSNP Id: rs374727686

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178587944G>A , CM000664.2:g.178587944G>A GRCh38
NC_000002.11:g.179452671G>A , CM000664.1:g.179452671G>A GRCh37
NC_000002.10:g.179160917G>A NCBI36
NG_011618.3:g.247859C>T , LRG_391:g.247859C>T
NG_051363.1:g.70118G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.55759C>T (TTN) ENSP00000343764.6:p.Arg18587Cys
ENST00000342175.11:c.36844C>T (TTN) ENSP00000340554.6:p.Arg12282Cys
ENST00000359218.10:c.36643C>T (TTN) ENSP00000352154.5:p.Arg12215Cys
ENST00000342175.10:c.36844C>T (TTN) ENSP00000340554.6:p.Arg12282Cys
ENST00000342992.10:c.55759C>T (TTN) ENSP00000343764.6:p.Arg18587Cys
ENST00000359218.9:c.36643C>T (TTN) ENSP00000352154.5:p.Arg12215Cys
ENST00000460472.6:c.36268C>T (TTN) ENSP00000434586.1:p.Arg12090Cys
ENST00000589042.5:c.63463C>T (TTN) MANE Select ENSP00000467141.1:p.Arg21155Cys
ENST00000591111.5:c.58540C>T (TTN) ENSP00000465570.1:p.Arg19514Cys
ENST00000615779.4:c.58540C>T (TTN) ENSP00000483597.1:p.Arg19514Cys
NM_001256850.1:c.58540C>T (TTN) NP_001243779.1:p.Arg19514Cys
NM_001267550.2:c.63463C>T (TTN) MANE Select NP_001254479.2:p.Arg21155Cys
NM_003319.4:c.36268C>T (TTN) NP_003310.4:p.Arg12090Cys
NM_133378.4:c.55759C>T (TTN) NP_596869.4:p.Arg18587Cys
NM_133432.3:c.36643C>T (TTN) NP_597676.3:p.Arg12215Cys
NM_133437.4:c.36844C>T (TTN) NP_597681.4:p.Arg12282Cys
NR_038271.1:n.597-9652G>A (TTN-AS1)
NR_038272.1:n.3188+2951G>A (TTN-AS1)
XM_011511729.1:c.62560C>T (TTN) XP_011510031.1:p.Arg20854Cys
XM_011511730.1:c.36454C>T (TTN) XP_011510032.1:p.Arg12152Cys
XM_011511731.1:c.36313C>T (TTN) XP_011510033.1:p.Arg12105Cys
XM_017004819.1:c.62356C>T (TTN) XP_016860308.1:p.Arg20786Cys
XM_017004820.1:c.57754C>T (TTN) XP_016860309.1:p.Arg19252Cys
XM_017004821.1:c.57751C>T (TTN) XP_016860310.1:p.Arg19251Cys
XM_017004822.1:c.54793C>T (TTN) XP_016860311.1:p.Arg18265Cys
XM_017004823.1:c.36409C>T (TTN) XP_016860312.1:p.Arg12137Cys
XM_024453094.1:c.57904C>T (TTN) XP_024308862.1:p.Arg19302Cys
XM_024453095.1:c.57901C>T (TTN) XP_024308863.1:p.Arg19301Cys
XM_024453096.1:c.57334C>T (TTN) XP_024308864.1:p.Arg19112Cys
XM_024453097.1:c.54676C>T (TTN) XP_024308865.1:p.Arg18226Cys
XM_024453098.1:c.54595C>T (TTN) XP_024308866.1:p.Arg18199Cys
XM_024453099.1:c.36358C>T (TTN) XP_024308867.1:p.Arg12120Cys
XM_024453100.1:c.26212C>T (TTN) XP_024308868.1:p.Arg8738Cys