Canonical Allele Identifier: CA349406787

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98470A>G (TTN) ENSP00000343764.6:p.Thr32824Ala
ENST00000342175.11:c.79555A>G (TTN) ENSP00000340554.6:p.Thr26519Ala
ENST00000359218.10:c.79354A>G (TTN) ENSP00000352154.5:p.Thr26452Ala
ENST00000342175.10:c.79555A>G (TTN) ENSP00000340554.6:p.Thr26519Ala
ENST00000342992.10:c.98470A>G (TTN) ENSP00000343764.6:p.Thr32824Ala
ENST00000359218.9:c.79354A>G (TTN) ENSP00000352154.5:p.Thr26452Ala
ENST00000460472.6:c.78979A>G (TTN) ENSP00000434586.1:p.Thr26327Ala
ENST00000589042.5:c.106174A>G (TTN) MANE Select ENSP00000467141.1:p.Thr35392Ala
ENST00000591111.5:c.101251A>G (TTN) ENSP00000465570.1:p.Thr33751Ala
ENST00000615779.4:c.101251A>G (TTN) ENSP00000483597.1:p.Thr33751Ala
NM_001256850.1:c.101251A>G (TTN) NP_001243779.1:p.Thr33751Ala
NM_001267550.2:c.106174A>G (TTN) MANE Select NP_001254479.2:p.Thr35392Ala
NM_003319.4:c.78979A>G (TTN) NP_003310.4:p.Thr26327Ala
NM_133378.4:c.98470A>G (TTN) NP_596869.4:p.Thr32824Ala
NM_133432.3:c.79354A>G (TTN) NP_597676.3:p.Thr26452Ala
NM_133437.4:c.79555A>G (TTN) NP_597681.4:p.Thr26519Ala
NR_038271.1:n.446+6805T>C (TTN-AS1)
NR_038272.1:n.220-5291T>C (TTN-AS1)
XM_011511729.1:c.105271A>G (TTN) XP_011510031.1:p.Thr35091Ala
XM_011511730.1:c.79165A>G (TTN) XP_011510032.1:p.Thr26389Ala
XM_011511731.1:c.79024A>G (TTN) XP_011510033.1:p.Thr26342Ala
XM_017004819.1:c.105067A>G (TTN) XP_016860308.1:p.Thr35023Ala
XM_017004820.1:c.100465A>G (TTN) XP_016860309.1:p.Thr33489Ala
XM_017004821.1:c.100462A>G (TTN) XP_016860310.1:p.Thr33488Ala
XM_017004822.1:c.97504A>G (TTN) XP_016860311.1:p.Thr32502Ala
XM_017004823.1:c.79120A>G (TTN) XP_016860312.1:p.Thr26374Ala
XM_024453094.1:c.100615A>G (TTN) XP_024308862.1:p.Thr33539Ala
XM_024453095.1:c.100612A>G (TTN) XP_024308863.1:p.Thr33538Ala
XM_024453096.1:c.100045A>G (TTN) XP_024308864.1:p.Thr33349Ala
XM_024453097.1:c.97387A>G (TTN) XP_024308865.1:p.Thr32463Ala
XM_024453098.1:c.97306A>G (TTN) XP_024308866.1:p.Thr32436Ala
XM_024453099.1:c.79069A>G (TTN) XP_024308867.1:p.Thr26357Ala
XM_024453100.1:c.68923A>G (TTN) XP_024308868.1:p.Thr22975Ala