Canonical Allele Identifier: CA141648

Linked Data

ClinVar Variation Id: 47664
dbSNP Id: rs397517788

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532669C>T , CM000664.2:g.178532669C>T GRCh38
NC_000002.11:g.179397396C>T , CM000664.1:g.179397396C>T GRCh37
NC_000002.10:g.179105642C>T NCBI36
NG_011618.3:g.303134G>A , LRG_391:g.303134G>A
NG_051363.1:g.14843C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96242G>A (TTN) ENSP00000343764.6:p.Arg32081Gln
ENST00000342175.11:c.77327G>A (TTN) ENSP00000340554.6:p.Arg25776Gln
ENST00000359218.10:c.77126G>A (TTN) ENSP00000352154.5:p.Arg25709Gln
ENST00000342175.10:c.77327G>A (TTN) ENSP00000340554.6:p.Arg25776Gln
ENST00000342992.10:c.96242G>A (TTN) ENSP00000343764.6:p.Arg32081Gln
ENST00000359218.9:c.77126G>A (TTN) ENSP00000352154.5:p.Arg25709Gln
ENST00000460472.6:c.76751G>A (TTN) ENSP00000434586.1:p.Arg25584Gln
ENST00000589042.5:c.103946G>A (TTN) MANE Select ENSP00000467141.1:p.Arg34649Gln
ENST00000591111.5:c.99023G>A (TTN) ENSP00000465570.1:p.Arg33008Gln
ENST00000615779.4:c.99023G>A (TTN) ENSP00000483597.1:p.Arg33008Gln
NM_001256850.1:c.99023G>A (TTN) NP_001243779.1:p.Arg33008Gln
NM_001267550.2:c.103946G>A (TTN) MANE Select NP_001254479.2:p.Arg34649Gln
NM_003319.4:c.76751G>A (TTN) NP_003310.4:p.Arg25584Gln
NM_133378.4:c.96242G>A (TTN) NP_596869.4:p.Arg32081Gln
NM_133432.3:c.77126G>A (TTN) NP_597676.3:p.Arg25709Gln
NM_133437.4:c.77327G>A (TTN) NP_597681.4:p.Arg25776Gln
NR_038271.1:n.446+9033C>T (TTN-AS1)
NR_038272.1:n.220-3063C>T (TTN-AS1)
XM_011511729.1:c.103043G>A (TTN) XP_011510031.1:p.Arg34348Gln
XM_011511730.1:c.76937G>A (TTN) XP_011510032.1:p.Arg25646Gln
XM_011511731.1:c.76796G>A (TTN) XP_011510033.1:p.Arg25599Gln
XM_017004819.1:c.102839G>A (TTN) XP_016860308.1:p.Arg34280Gln
XM_017004820.1:c.98237G>A (TTN) XP_016860309.1:p.Arg32746Gln
XM_017004821.1:c.98234G>A (TTN) XP_016860310.1:p.Arg32745Gln
XM_017004822.1:c.95276G>A (TTN) XP_016860311.1:p.Arg31759Gln
XM_017004823.1:c.76892G>A (TTN) XP_016860312.1:p.Arg25631Gln
XM_024453094.1:c.98387G>A (TTN) XP_024308862.1:p.Arg32796Gln
XM_024453095.1:c.98384G>A (TTN) XP_024308863.1:p.Arg32795Gln
XM_024453096.1:c.97817G>A (TTN) XP_024308864.1:p.Arg32606Gln
XM_024453097.1:c.95159G>A (TTN) XP_024308865.1:p.Arg31720Gln
XM_024453098.1:c.95078G>A (TTN) XP_024308866.1:p.Arg31693Gln
XM_024453099.1:c.76841G>A (TTN) XP_024308867.1:p.Arg25614Gln
XM_024453100.1:c.66695G>A (TTN) XP_024308868.1:p.Arg22232Gln