Canonical Allele Identifier: CA349411585

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532129G>T , CM000664.2:g.178532129G>T GRCh38
NC_000002.11:g.179396856G>T , CM000664.1:g.179396856G>T GRCh37
NC_000002.10:g.179105102G>T NCBI36
NG_011618.3:g.303674C>A , LRG_391:g.303674C>A
NG_051363.1:g.14303G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96782C>A (TTN) ENSP00000343764.6:p.Ser32261Ter
ENST00000342175.11:c.77867C>A (TTN) ENSP00000340554.6:p.Ser25956Ter
ENST00000359218.10:c.77666C>A (TTN) ENSP00000352154.5:p.Ser25889Ter
ENST00000342175.10:c.77867C>A (TTN) ENSP00000340554.6:p.Ser25956Ter
ENST00000342992.10:c.96782C>A (TTN) ENSP00000343764.6:p.Ser32261Ter
ENST00000359218.9:c.77666C>A (TTN) ENSP00000352154.5:p.Ser25889Ter
ENST00000460472.6:c.77291C>A (TTN) ENSP00000434586.1:p.Ser25764Ter
ENST00000589042.5:c.104486C>A (TTN) MANE Select ENSP00000467141.1:p.Ser34829Ter
ENST00000591111.5:c.99563C>A (TTN) ENSP00000465570.1:p.Ser33188Ter
ENST00000615779.4:c.99563C>A (TTN) ENSP00000483597.1:p.Ser33188Ter
NM_001256850.1:c.99563C>A (TTN) NP_001243779.1:p.Ser33188Ter
NM_001267550.2:c.104486C>A (TTN) MANE Select NP_001254479.2:p.Ser34829Ter
NM_003319.4:c.77291C>A (TTN) NP_003310.4:p.Ser25764Ter
NM_133378.4:c.96782C>A (TTN) NP_596869.4:p.Ser32261Ter
NM_133432.3:c.77666C>A (TTN) NP_597676.3:p.Ser25889Ter
NM_133437.4:c.77867C>A (TTN) NP_597681.4:p.Ser25956Ter
NR_038271.1:n.446+8493G>T (TTN-AS1)
NR_038272.1:n.220-3603G>T (TTN-AS1)
XM_011511729.1:c.103583C>A (TTN) XP_011510031.1:p.Ser34528Ter
XM_011511730.1:c.77477C>A (TTN) XP_011510032.1:p.Ser25826Ter
XM_011511731.1:c.77336C>A (TTN) XP_011510033.1:p.Ser25779Ter
XM_017004819.1:c.103379C>A (TTN) XP_016860308.1:p.Ser34460Ter
XM_017004820.1:c.98777C>A (TTN) XP_016860309.1:p.Ser32926Ter
XM_017004821.1:c.98774C>A (TTN) XP_016860310.1:p.Ser32925Ter
XM_017004822.1:c.95816C>A (TTN) XP_016860311.1:p.Ser31939Ter
XM_017004823.1:c.77432C>A (TTN) XP_016860312.1:p.Ser25811Ter
XM_024453094.1:c.98927C>A (TTN) XP_024308862.1:p.Ser32976Ter
XM_024453095.1:c.98924C>A (TTN) XP_024308863.1:p.Ser32975Ter
XM_024453096.1:c.98357C>A (TTN) XP_024308864.1:p.Ser32786Ter
XM_024453097.1:c.95699C>A (TTN) XP_024308865.1:p.Ser31900Ter
XM_024453098.1:c.95618C>A (TTN) XP_024308866.1:p.Ser31873Ter
XM_024453099.1:c.77381C>A (TTN) XP_024308867.1:p.Ser25794Ter
XM_024453100.1:c.67235C>A (TTN) XP_024308868.1:p.Ser22412Ter