Canonical Allele Identifier: CA349502818

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83524C>T (TTN) ENSP00000343764.6:p.Pro27842Ser
ENST00000342175.11:c.64609C>T (TTN) ENSP00000340554.6:p.Pro21537Ser
ENST00000359218.10:c.64408C>T (TTN) ENSP00000352154.5:p.Pro21470Ser
ENST00000342175.10:c.64609C>T (TTN) ENSP00000340554.6:p.Pro21537Ser
ENST00000342992.10:c.83524C>T (TTN) ENSP00000343764.6:p.Pro27842Ser
ENST00000359218.9:c.64408C>T (TTN) ENSP00000352154.5:p.Pro21470Ser
ENST00000460472.6:c.64033C>T (TTN) ENSP00000434586.1:p.Pro21345Ser
ENST00000589042.5:c.91228C>T (TTN) MANE Select ENSP00000467141.1:p.Pro30410Ser
ENST00000591111.5:c.86305C>T (TTN) ENSP00000465570.1:p.Pro28769Ser
ENST00000615779.4:c.86305C>T (TTN) ENSP00000483597.1:p.Pro28769Ser
NM_001256850.1:c.86305C>T (TTN) NP_001243779.1:p.Pro28769Ser
NM_001267550.2:c.91228C>T (TTN) MANE Select NP_001254479.2:p.Pro30410Ser
NM_003319.4:c.64033C>T (TTN) NP_003310.4:p.Pro21345Ser
NM_133378.4:c.83524C>T (TTN) NP_596869.4:p.Pro27842Ser
NM_133432.3:c.64408C>T (TTN) NP_597676.3:p.Pro21470Ser
NM_133437.4:c.64609C>T (TTN) NP_597681.4:p.Pro21537Ser
NR_038271.1:n.447-19628G>A (TTN-AS1)
NR_038272.1:n.2043+9311G>A (TTN-AS1)
XM_011511729.1:c.90325C>T (TTN) XP_011510031.1:p.Pro30109Ser
XM_011511730.1:c.64219C>T (TTN) XP_011510032.1:p.Pro21407Ser
XM_011511731.1:c.64078C>T (TTN) XP_011510033.1:p.Pro21360Ser
XM_017004819.1:c.90121C>T (TTN) XP_016860308.1:p.Pro30041Ser
XM_017004820.1:c.85519C>T (TTN) XP_016860309.1:p.Pro28507Ser
XM_017004821.1:c.85516C>T (TTN) XP_016860310.1:p.Pro28506Ser
XM_017004822.1:c.82558C>T (TTN) XP_016860311.1:p.Pro27520Ser
XM_017004823.1:c.64174C>T (TTN) XP_016860312.1:p.Pro21392Ser
XM_024453094.1:c.85669C>T (TTN) XP_024308862.1:p.Pro28557Ser
XM_024453095.1:c.85666C>T (TTN) XP_024308863.1:p.Pro28556Ser
XM_024453096.1:c.85099C>T (TTN) XP_024308864.1:p.Pro28367Ser
XM_024453097.1:c.82441C>T (TTN) XP_024308865.1:p.Pro27481Ser
XM_024453098.1:c.82360C>T (TTN) XP_024308866.1:p.Pro27454Ser
XM_024453099.1:c.64123C>T (TTN) XP_024308867.1:p.Pro21375Ser
XM_024453100.1:c.53977C>T (TTN) XP_024308868.1:p.Pro17993Ser