Canonical Allele Identifier: CA349502825

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551672G>T , CM000664.2:g.178551672G>T GRCh38
NC_000002.11:g.179416399G>T , CM000664.1:g.179416399G>T GRCh37
NC_000002.10:g.179124645G>T NCBI36
NG_011618.3:g.284131C>A , LRG_391:g.284131C>A
NG_051363.1:g.33846G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83524C>A (TTN) ENSP00000343764.6:p.Pro27842Thr
ENST00000342175.11:c.64609C>A (TTN) ENSP00000340554.6:p.Pro21537Thr
ENST00000359218.10:c.64408C>A (TTN) ENSP00000352154.5:p.Pro21470Thr
ENST00000342175.10:c.64609C>A (TTN) ENSP00000340554.6:p.Pro21537Thr
ENST00000342992.10:c.83524C>A (TTN) ENSP00000343764.6:p.Pro27842Thr
ENST00000359218.9:c.64408C>A (TTN) ENSP00000352154.5:p.Pro21470Thr
ENST00000460472.6:c.64033C>A (TTN) ENSP00000434586.1:p.Pro21345Thr
ENST00000589042.5:c.91228C>A (TTN) MANE Select ENSP00000467141.1:p.Pro30410Thr
ENST00000591111.5:c.86305C>A (TTN) ENSP00000465570.1:p.Pro28769Thr
ENST00000615779.4:c.86305C>A (TTN) ENSP00000483597.1:p.Pro28769Thr
NM_001256850.1:c.86305C>A (TTN) NP_001243779.1:p.Pro28769Thr
NM_001267550.2:c.91228C>A (TTN) MANE Select NP_001254479.2:p.Pro30410Thr
NM_003319.4:c.64033C>A (TTN) NP_003310.4:p.Pro21345Thr
NM_133378.4:c.83524C>A (TTN) NP_596869.4:p.Pro27842Thr
NM_133432.3:c.64408C>A (TTN) NP_597676.3:p.Pro21470Thr
NM_133437.4:c.64609C>A (TTN) NP_597681.4:p.Pro21537Thr
NR_038271.1:n.447-19628G>T (TTN-AS1)
NR_038272.1:n.2043+9311G>T (TTN-AS1)
XM_011511729.1:c.90325C>A (TTN) XP_011510031.1:p.Pro30109Thr
XM_011511730.1:c.64219C>A (TTN) XP_011510032.1:p.Pro21407Thr
XM_011511731.1:c.64078C>A (TTN) XP_011510033.1:p.Pro21360Thr
XM_017004819.1:c.90121C>A (TTN) XP_016860308.1:p.Pro30041Thr
XM_017004820.1:c.85519C>A (TTN) XP_016860309.1:p.Pro28507Thr
XM_017004821.1:c.85516C>A (TTN) XP_016860310.1:p.Pro28506Thr
XM_017004822.1:c.82558C>A (TTN) XP_016860311.1:p.Pro27520Thr
XM_017004823.1:c.64174C>A (TTN) XP_016860312.1:p.Pro21392Thr
XM_024453094.1:c.85669C>A (TTN) XP_024308862.1:p.Pro28557Thr
XM_024453095.1:c.85666C>A (TTN) XP_024308863.1:p.Pro28556Thr
XM_024453096.1:c.85099C>A (TTN) XP_024308864.1:p.Pro28367Thr
XM_024453097.1:c.82441C>A (TTN) XP_024308865.1:p.Pro27481Thr
XM_024453098.1:c.82360C>A (TTN) XP_024308866.1:p.Pro27454Thr
XM_024453099.1:c.64123C>A (TTN) XP_024308867.1:p.Pro21375Thr
XM_024453100.1:c.53977C>A (TTN) XP_024308868.1:p.Pro17993Thr