Canonical Allele Identifier: CA310899

Linked Data

ClinVar Variation Id: 202987
dbSNP Id: rs780476250

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549839C>T , CM000664.2:g.178549839C>T GRCh38
NC_000002.11:g.179414566C>T , CM000664.1:g.179414566C>T GRCh37
NC_000002.10:g.179122812C>T NCBI36
NG_011618.3:g.285964G>A , LRG_391:g.285964G>A
NG_051363.1:g.32013C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84179G>A (TTN) ENSP00000343764.6:p.Arg28060Lys
ENST00000342175.11:c.65264G>A (TTN) ENSP00000340554.6:p.Arg21755Lys
ENST00000359218.10:c.65063G>A (TTN) ENSP00000352154.5:p.Arg21688Lys
ENST00000342175.10:c.65264G>A (TTN) ENSP00000340554.6:p.Arg21755Lys
ENST00000342992.10:c.84179G>A (TTN) ENSP00000343764.6:p.Arg28060Lys
ENST00000359218.9:c.65063G>A (TTN) ENSP00000352154.5:p.Arg21688Lys
ENST00000460472.6:c.64688G>A (TTN) ENSP00000434586.1:p.Arg21563Lys
ENST00000589042.5:c.91883G>A (TTN) MANE Select ENSP00000467141.1:p.Arg30628Lys
ENST00000591111.5:c.86960G>A (TTN) ENSP00000465570.1:p.Arg28987Lys
ENST00000615779.4:c.86960G>A (TTN) ENSP00000483597.1:p.Arg28987Lys
NM_001256850.1:c.86960G>A (TTN) NP_001243779.1:p.Arg28987Lys
NM_001267550.2:c.91883G>A (TTN) MANE Select NP_001254479.2:p.Arg30628Lys
NM_003319.4:c.64688G>A (TTN) NP_003310.4:p.Arg21563Lys
NM_133378.4:c.84179G>A (TTN) NP_596869.4:p.Arg28060Lys
NM_133432.3:c.65063G>A (TTN) NP_597676.3:p.Arg21688Lys
NM_133437.4:c.65264G>A (TTN) NP_597681.4:p.Arg21755Lys
NR_038271.1:n.447-21461C>T (TTN-AS1)
NR_038272.1:n.2043+7478C>T (TTN-AS1)
XM_011511729.1:c.90980G>A (TTN) XP_011510031.1:p.Arg30327Lys
XM_011511730.1:c.64874G>A (TTN) XP_011510032.1:p.Arg21625Lys
XM_011511731.1:c.64733G>A (TTN) XP_011510033.1:p.Arg21578Lys
XM_017004819.1:c.90776G>A (TTN) XP_016860308.1:p.Arg30259Lys
XM_017004820.1:c.86174G>A (TTN) XP_016860309.1:p.Arg28725Lys
XM_017004821.1:c.86171G>A (TTN) XP_016860310.1:p.Arg28724Lys
XM_017004822.1:c.83213G>A (TTN) XP_016860311.1:p.Arg27738Lys
XM_017004823.1:c.64829G>A (TTN) XP_016860312.1:p.Arg21610Lys
XM_024453094.1:c.86324G>A (TTN) XP_024308862.1:p.Arg28775Lys
XM_024453095.1:c.86321G>A (TTN) XP_024308863.1:p.Arg28774Lys
XM_024453096.1:c.85754G>A (TTN) XP_024308864.1:p.Arg28585Lys
XM_024453097.1:c.83096G>A (TTN) XP_024308865.1:p.Arg27699Lys
XM_024453098.1:c.83015G>A (TTN) XP_024308866.1:p.Arg27672Lys
XM_024453099.1:c.64778G>A (TTN) XP_024308867.1:p.Arg21593Lys
XM_024453100.1:c.54632G>A (TTN) XP_024308868.1:p.Arg18211Lys