Canonical Allele Identifier: CA141618

Linked Data

ClinVar Variation Id: 47654
dbSNP Id: rs372716177

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533878C>T , CM000664.2:g.178533878C>T GRCh38
NC_000002.11:g.179398605C>T , CM000664.1:g.179398605C>T GRCh37
NC_000002.10:g.179106851C>T NCBI36
NG_011618.3:g.301925G>A , LRG_391:g.301925G>A
NG_051363.1:g.16052C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.95033G>A (TTN) ENSP00000343764.6:p.Arg31678His
ENST00000342175.11:c.76118G>A (TTN) ENSP00000340554.6:p.Arg25373His
ENST00000359218.10:c.75917G>A (TTN) ENSP00000352154.5:p.Arg25306His
ENST00000342175.10:c.76118G>A (TTN) ENSP00000340554.6:p.Arg25373His
ENST00000342992.10:c.95033G>A (TTN) ENSP00000343764.6:p.Arg31678His
ENST00000359218.9:c.75917G>A (TTN) ENSP00000352154.5:p.Arg25306His
ENST00000460472.6:c.75542G>A (TTN) ENSP00000434586.1:p.Arg25181His
ENST00000589042.5:c.102737G>A (TTN) MANE Select ENSP00000467141.1:p.Arg34246His
ENST00000591111.5:c.97814G>A (TTN) ENSP00000465570.1:p.Arg32605His
ENST00000615779.4:c.97814G>A (TTN) ENSP00000483597.1:p.Arg32605His
NM_001256850.1:c.97814G>A (TTN) NP_001243779.1:p.Arg32605His
NM_001267550.2:c.102737G>A (TTN) MANE Select NP_001254479.2:p.Arg34246His
NM_003319.4:c.75542G>A (TTN) NP_003310.4:p.Arg25181His
NM_133378.4:c.95033G>A (TTN) NP_596869.4:p.Arg31678His
NM_133432.3:c.75917G>A (TTN) NP_597676.3:p.Arg25306His
NM_133437.4:c.76118G>A (TTN) NP_597681.4:p.Arg25373His
NR_038271.1:n.446+10242C>T (TTN-AS1)
NR_038272.1:n.220-1854C>T (TTN-AS1)
XM_011511729.1:c.101834G>A (TTN) XP_011510031.1:p.Arg33945His
XM_011511730.1:c.75728G>A (TTN) XP_011510032.1:p.Arg25243His
XM_011511731.1:c.75587G>A (TTN) XP_011510033.1:p.Arg25196His
XM_017004819.1:c.101630G>A (TTN) XP_016860308.1:p.Arg33877His
XM_017004820.1:c.97028G>A (TTN) XP_016860309.1:p.Arg32343His
XM_017004821.1:c.97025G>A (TTN) XP_016860310.1:p.Arg32342His
XM_017004822.1:c.94067G>A (TTN) XP_016860311.1:p.Arg31356His
XM_017004823.1:c.75683G>A (TTN) XP_016860312.1:p.Arg25228His
XM_024453094.1:c.97178G>A (TTN) XP_024308862.1:p.Arg32393His
XM_024453095.1:c.97175G>A (TTN) XP_024308863.1:p.Arg32392His
XM_024453096.1:c.96608G>A (TTN) XP_024308864.1:p.Arg32203His
XM_024453097.1:c.93950G>A (TTN) XP_024308865.1:p.Arg31317His
XM_024453098.1:c.93869G>A (TTN) XP_024308866.1:p.Arg31290His
XM_024453099.1:c.75632G>A (TTN) XP_024308867.1:p.Arg25211His
XM_024453100.1:c.65486G>A (TTN) XP_024308868.1:p.Arg21829His