Canonical Allele Identifier: CA349406785

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530441T>A , CM000664.2:g.178530441T>A GRCh38
NC_000002.11:g.179395168T>A , CM000664.1:g.179395168T>A GRCh37
NC_000002.10:g.179103414T>A NCBI36
NG_011618.3:g.305362A>T , LRG_391:g.305362A>T
NG_051363.1:g.12615T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98470A>T (TTN) ENSP00000343764.6:p.Thr32824Ser
ENST00000342175.11:c.79555A>T (TTN) ENSP00000340554.6:p.Thr26519Ser
ENST00000359218.10:c.79354A>T (TTN) ENSP00000352154.5:p.Thr26452Ser
ENST00000342175.10:c.79555A>T (TTN) ENSP00000340554.6:p.Thr26519Ser
ENST00000342992.10:c.98470A>T (TTN) ENSP00000343764.6:p.Thr32824Ser
ENST00000359218.9:c.79354A>T (TTN) ENSP00000352154.5:p.Thr26452Ser
ENST00000460472.6:c.78979A>T (TTN) ENSP00000434586.1:p.Thr26327Ser
ENST00000589042.5:c.106174A>T (TTN) MANE Select ENSP00000467141.1:p.Thr35392Ser
ENST00000591111.5:c.101251A>T (TTN) ENSP00000465570.1:p.Thr33751Ser
ENST00000615779.4:c.101251A>T (TTN) ENSP00000483597.1:p.Thr33751Ser
NM_001256850.1:c.101251A>T (TTN) NP_001243779.1:p.Thr33751Ser
NM_001267550.2:c.106174A>T (TTN) MANE Select NP_001254479.2:p.Thr35392Ser
NM_003319.4:c.78979A>T (TTN) NP_003310.4:p.Thr26327Ser
NM_133378.4:c.98470A>T (TTN) NP_596869.4:p.Thr32824Ser
NM_133432.3:c.79354A>T (TTN) NP_597676.3:p.Thr26452Ser
NM_133437.4:c.79555A>T (TTN) NP_597681.4:p.Thr26519Ser
NR_038271.1:n.446+6805T>A (TTN-AS1)
NR_038272.1:n.220-5291T>A (TTN-AS1)
XM_011511729.1:c.105271A>T (TTN) XP_011510031.1:p.Thr35091Ser
XM_011511730.1:c.79165A>T (TTN) XP_011510032.1:p.Thr26389Ser
XM_011511731.1:c.79024A>T (TTN) XP_011510033.1:p.Thr26342Ser
XM_017004819.1:c.105067A>T (TTN) XP_016860308.1:p.Thr35023Ser
XM_017004820.1:c.100465A>T (TTN) XP_016860309.1:p.Thr33489Ser
XM_017004821.1:c.100462A>T (TTN) XP_016860310.1:p.Thr33488Ser
XM_017004822.1:c.97504A>T (TTN) XP_016860311.1:p.Thr32502Ser
XM_017004823.1:c.79120A>T (TTN) XP_016860312.1:p.Thr26374Ser
XM_024453094.1:c.100615A>T (TTN) XP_024308862.1:p.Thr33539Ser
XM_024453095.1:c.100612A>T (TTN) XP_024308863.1:p.Thr33538Ser
XM_024453096.1:c.100045A>T (TTN) XP_024308864.1:p.Thr33349Ser
XM_024453097.1:c.97387A>T (TTN) XP_024308865.1:p.Thr32463Ser
XM_024453098.1:c.97306A>T (TTN) XP_024308866.1:p.Thr32436Ser
XM_024453099.1:c.79069A>T (TTN) XP_024308867.1:p.Thr26357Ser
XM_024453100.1:c.68923A>T (TTN) XP_024308868.1:p.Thr22975Ser