Canonical Allele Identifier: CA349608962

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178615360A>T , CM000664.2:g.178615360A>T GRCh38
NC_000002.11:g.179480087A>T , CM000664.1:g.179480087A>T GRCh37
NC_000002.10:g.179188332A>T NCBI36
NG_011618.3:g.220443T>A , LRG_391:g.220443T>A
NG_051363.1:g.97534A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.40881T>A (TTN) ENSP00000343764.6:p.Cys13627Ter
ENST00000342175.11:c.21966T>A (TTN) ENSP00000340554.6:p.Cys7322Ter
ENST00000359218.10:c.21765T>A (TTN) ENSP00000352154.5:p.Cys7255Ter
ENST00000342175.10:c.21966T>A (TTN) ENSP00000340554.6:p.Cys7322Ter
ENST00000342992.10:c.40881T>A (TTN) ENSP00000343764.6:p.Cys13627Ter
ENST00000359218.9:c.21765T>A (TTN) ENSP00000352154.5:p.Cys7255Ter
ENST00000460472.6:c.21390T>A (TTN) ENSP00000434586.1:p.Cys7130Ter
ENST00000589042.5:c.48585T>A (TTN) MANE Select ENSP00000467141.1:p.Cys16195Ter
ENST00000591111.5:c.43662T>A (TTN) ENSP00000465570.1:p.Cys14554Ter
ENST00000615779.4:c.43662T>A (TTN) ENSP00000483597.1:p.Cys14554Ter
NM_001256850.1:c.43662T>A (TTN) NP_001243779.1:p.Cys14554Ter
NM_001267550.2:c.48585T>A (TTN) MANE Select NP_001254479.2:p.Cys16195Ter
NM_003319.4:c.21390T>A (TTN) NP_003310.4:p.Cys7130Ter
NM_133378.4:c.40881T>A (TTN) NP_596869.4:p.Cys13627Ter
NM_133432.3:c.21765T>A (TTN) NP_597676.3:p.Cys7255Ter
NM_133437.4:c.21966T>A (TTN) NP_597681.4:p.Cys7322Ter
NR_038271.1:n.1590A>T (TTN-AS1)
XM_011511729.1:c.47682T>A (TTN) XP_011510031.1:p.Cys15894Ter
XM_011511730.1:c.21576T>A (TTN) XP_011510032.1:p.Cys7192Ter
XM_011511731.1:c.21435T>A (TTN) XP_011510033.1:p.Cys7145Ter
XM_017004819.1:c.47478T>A (TTN) XP_016860308.1:p.Cys15826Ter
XM_017004820.1:c.42876T>A (TTN) XP_016860309.1:p.Cys14292Ter
XM_017004821.1:c.42873T>A (TTN) XP_016860310.1:p.Cys14291Ter
XM_017004822.1:c.39915T>A (TTN) XP_016860311.1:p.Cys13305Ter
XM_017004823.1:c.21531T>A (TTN) XP_016860312.1:p.Cys7177Ter
XM_024453094.1:c.43026T>A (TTN) XP_024308862.1:p.Cys14342Ter
XM_024453095.1:c.43023T>A (TTN) XP_024308863.1:p.Cys14341Ter
XM_024453096.1:c.42456T>A (TTN) XP_024308864.1:p.Cys14152Ter
XM_024453097.1:c.39798T>A (TTN) XP_024308865.1:p.Cys13266Ter
XM_024453098.1:c.39717T>A (TTN) XP_024308866.1:p.Cys13239Ter
XM_024453099.1:c.21480T>A (TTN) XP_024308867.1:p.Cys7160Ter
XM_024453100.1:c.11334T>A (TTN) XP_024308868.1:p.Cys3778Ter