Canonical Allele Identifier: CA349490137

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178548768G>T , CM000664.2:g.178548768G>T GRCh38
NC_000002.11:g.179413495G>T , CM000664.1:g.179413495G>T GRCh37
NC_000002.10:g.179121741G>T NCBI36
NG_011618.3:g.287035C>A , LRG_391:g.287035C>A
NG_051363.1:g.30942G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.85154C>A (TTN) ENSP00000343764.6:p.Pro28385His
ENST00000342175.11:c.66239C>A (TTN) ENSP00000340554.6:p.Pro22080His
ENST00000359218.10:c.66038C>A (TTN) ENSP00000352154.5:p.Pro22013His
ENST00000342175.10:c.66239C>A (TTN) ENSP00000340554.6:p.Pro22080His
ENST00000342992.10:c.85154C>A (TTN) ENSP00000343764.6:p.Pro28385His
ENST00000359218.9:c.66038C>A (TTN) ENSP00000352154.5:p.Pro22013His
ENST00000460472.6:c.65663C>A (TTN) ENSP00000434586.1:p.Pro21888His
ENST00000589042.5:c.92858C>A (TTN) MANE Select ENSP00000467141.1:p.Pro30953His
ENST00000591111.5:c.87935C>A (TTN) ENSP00000465570.1:p.Pro29312His
ENST00000615779.4:c.87935C>A (TTN) ENSP00000483597.1:p.Pro29312His
NM_001256850.1:c.87935C>A (TTN) NP_001243779.1:p.Pro29312His
NM_001267550.2:c.92858C>A (TTN) MANE Select NP_001254479.2:p.Pro30953His
NM_003319.4:c.65663C>A (TTN) NP_003310.4:p.Pro21888His
NM_133378.4:c.85154C>A (TTN) NP_596869.4:p.Pro28385His
NM_133432.3:c.66038C>A (TTN) NP_597676.3:p.Pro22013His
NM_133437.4:c.66239C>A (TTN) NP_597681.4:p.Pro22080His
NR_038271.1:n.447-22532G>T (TTN-AS1)
NR_038272.1:n.2043+6407G>T (TTN-AS1)
XM_011511729.1:c.91955C>A (TTN) XP_011510031.1:p.Pro30652His
XM_011511730.1:c.65849C>A (TTN) XP_011510032.1:p.Pro21950His
XM_011511731.1:c.65708C>A (TTN) XP_011510033.1:p.Pro21903His
XM_017004819.1:c.91751C>A (TTN) XP_016860308.1:p.Pro30584His
XM_017004820.1:c.87149C>A (TTN) XP_016860309.1:p.Pro29050His
XM_017004821.1:c.87146C>A (TTN) XP_016860310.1:p.Pro29049His
XM_017004822.1:c.84188C>A (TTN) XP_016860311.1:p.Pro28063His
XM_017004823.1:c.65804C>A (TTN) XP_016860312.1:p.Pro21935His
XM_024453094.1:c.87299C>A (TTN) XP_024308862.1:p.Pro29100His
XM_024453095.1:c.87296C>A (TTN) XP_024308863.1:p.Pro29099His
XM_024453096.1:c.86729C>A (TTN) XP_024308864.1:p.Pro28910His
XM_024453097.1:c.84071C>A (TTN) XP_024308865.1:p.Pro28024His
XM_024453098.1:c.83990C>A (TTN) XP_024308866.1:p.Pro27997His
XM_024453099.1:c.65753C>A (TTN) XP_024308867.1:p.Pro21918His
XM_024453100.1:c.55607C>A (TTN) XP_024308868.1:p.Pro18536His