Canonical Allele Identifier: CA349495552

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549771G>T , CM000664.2:g.178549771G>T GRCh38
NC_000002.11:g.179414498G>T , CM000664.1:g.179414498G>T GRCh37
NC_000002.10:g.179122744G>T NCBI36
NG_011618.3:g.286032C>A , LRG_391:g.286032C>A
NG_051363.1:g.31945G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.84247C>A (TTN) ENSP00000343764.6:p.Pro28083Thr
ENST00000342175.11:c.65332C>A (TTN) ENSP00000340554.6:p.Pro21778Thr
ENST00000359218.10:c.65131C>A (TTN) ENSP00000352154.5:p.Pro21711Thr
ENST00000342175.10:c.65332C>A (TTN) ENSP00000340554.6:p.Pro21778Thr
ENST00000342992.10:c.84247C>A (TTN) ENSP00000343764.6:p.Pro28083Thr
ENST00000359218.9:c.65131C>A (TTN) ENSP00000352154.5:p.Pro21711Thr
ENST00000460472.6:c.64756C>A (TTN) ENSP00000434586.1:p.Pro21586Thr
ENST00000589042.5:c.91951C>A (TTN) MANE Select ENSP00000467141.1:p.Pro30651Thr
ENST00000591111.5:c.87028C>A (TTN) ENSP00000465570.1:p.Pro29010Thr
ENST00000615779.4:c.87028C>A (TTN) ENSP00000483597.1:p.Pro29010Thr
NM_001256850.1:c.87028C>A (TTN) NP_001243779.1:p.Pro29010Thr
NM_001267550.2:c.91951C>A (TTN) MANE Select NP_001254479.2:p.Pro30651Thr
NM_003319.4:c.64756C>A (TTN) NP_003310.4:p.Pro21586Thr
NM_133378.4:c.84247C>A (TTN) NP_596869.4:p.Pro28083Thr
NM_133432.3:c.65131C>A (TTN) NP_597676.3:p.Pro21711Thr
NM_133437.4:c.65332C>A (TTN) NP_597681.4:p.Pro21778Thr
NR_038271.1:n.447-21529G>T (TTN-AS1)
NR_038272.1:n.2043+7410G>T (TTN-AS1)
XM_011511729.1:c.91048C>A (TTN) XP_011510031.1:p.Pro30350Thr
XM_011511730.1:c.64942C>A (TTN) XP_011510032.1:p.Pro21648Thr
XM_011511731.1:c.64801C>A (TTN) XP_011510033.1:p.Pro21601Thr
XM_017004819.1:c.90844C>A (TTN) XP_016860308.1:p.Pro30282Thr
XM_017004820.1:c.86242C>A (TTN) XP_016860309.1:p.Pro28748Thr
XM_017004821.1:c.86239C>A (TTN) XP_016860310.1:p.Pro28747Thr
XM_017004822.1:c.83281C>A (TTN) XP_016860311.1:p.Pro27761Thr
XM_017004823.1:c.64897C>A (TTN) XP_016860312.1:p.Pro21633Thr
XM_024453094.1:c.86392C>A (TTN) XP_024308862.1:p.Pro28798Thr
XM_024453095.1:c.86389C>A (TTN) XP_024308863.1:p.Pro28797Thr
XM_024453096.1:c.85822C>A (TTN) XP_024308864.1:p.Pro28608Thr
XM_024453097.1:c.83164C>A (TTN) XP_024308865.1:p.Pro27722Thr
XM_024453098.1:c.83083C>A (TTN) XP_024308866.1:p.Pro27695Thr
XM_024453099.1:c.64846C>A (TTN) XP_024308867.1:p.Pro21616Thr
XM_024453100.1:c.54700C>A (TTN) XP_024308868.1:p.Pro18234Thr