Canonical Allele Identifier: CA349658745

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178574899T>G , CM000664.2:g.178574899T>G GRCh38
NC_000002.11:g.179439626T>G , CM000664.1:g.179439626T>G GRCh37
NC_000002.10:g.179147872T>G NCBI36
NG_011618.3:g.260904A>C , LRG_391:g.260904A>C
NG_051363.1:g.57073T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.63529A>C (TTN) ENSP00000343764.6:p.Thr21177Pro
ENST00000342175.11:c.44614A>C (TTN) ENSP00000340554.6:p.Thr14872Pro
ENST00000359218.10:c.44413A>C (TTN) ENSP00000352154.5:p.Thr14805Pro
ENST00000342175.10:c.44614A>C (TTN) ENSP00000340554.6:p.Thr14872Pro
ENST00000342992.10:c.63529A>C (TTN) ENSP00000343764.6:p.Thr21177Pro
ENST00000359218.9:c.44413A>C (TTN) ENSP00000352154.5:p.Thr14805Pro
ENST00000460472.6:c.44038A>C (TTN) ENSP00000434586.1:p.Thr14680Pro
ENST00000589042.5:c.71233A>C (TTN) MANE Select ENSP00000467141.1:p.Thr23745Pro
ENST00000591111.5:c.66310A>C (TTN) ENSP00000465570.1:p.Thr22104Pro
ENST00000615779.4:c.66310A>C (TTN) ENSP00000483597.1:p.Thr22104Pro
NM_001256850.1:c.66310A>C (TTN) NP_001243779.1:p.Thr22104Pro
NM_001267550.2:c.71233A>C (TTN) MANE Select NP_001254479.2:p.Thr23745Pro
NM_003319.4:c.44038A>C (TTN) NP_003310.4:p.Thr14680Pro
NM_133378.4:c.63529A>C (TTN) NP_596869.4:p.Thr21177Pro
NM_133432.3:c.44413A>C (TTN) NP_597676.3:p.Thr14805Pro
NM_133437.4:c.44614A>C (TTN) NP_597681.4:p.Thr14872Pro
NR_038271.1:n.596+3450T>G (TTN-AS1)
NR_038272.1:n.2044-7673T>G (TTN-AS1)
XM_011511729.1:c.70330A>C (TTN) XP_011510031.1:p.Thr23444Pro
XM_011511730.1:c.44224A>C (TTN) XP_011510032.1:p.Thr14742Pro
XM_011511731.1:c.44083A>C (TTN) XP_011510033.1:p.Thr14695Pro
XM_017004819.1:c.70126A>C (TTN) XP_016860308.1:p.Thr23376Pro
XM_017004820.1:c.65524A>C (TTN) XP_016860309.1:p.Thr21842Pro
XM_017004821.1:c.65521A>C (TTN) XP_016860310.1:p.Thr21841Pro
XM_017004822.1:c.62563A>C (TTN) XP_016860311.1:p.Thr20855Pro
XM_017004823.1:c.44179A>C (TTN) XP_016860312.1:p.Thr14727Pro
XM_024453094.1:c.65674A>C (TTN) XP_024308862.1:p.Thr21892Pro
XM_024453095.1:c.65671A>C (TTN) XP_024308863.1:p.Thr21891Pro
XM_024453096.1:c.65104A>C (TTN) XP_024308864.1:p.Thr21702Pro
XM_024453097.1:c.62446A>C (TTN) XP_024308865.1:p.Thr20816Pro
XM_024453098.1:c.62365A>C (TTN) XP_024308866.1:p.Thr20789Pro
XM_024453099.1:c.44128A>C (TTN) XP_024308867.1:p.Thr14710Pro
XM_024453100.1:c.33982A>C (TTN) XP_024308868.1:p.Thr11328Pro