Canonical Allele Identifier: CA349479353

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178590917T>A , CM000664.2:g.178590917T>A GRCh38
NC_000002.11:g.179455644T>A , CM000664.1:g.179455644T>A GRCh37
NC_000002.10:g.179163890T>A NCBI36
NG_011618.3:g.244886A>T , LRG_391:g.244886A>T
NG_051363.1:g.73091T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.53104A>T (TTN) ENSP00000343764.6:p.Ser17702Cys
ENST00000342175.11:c.34189A>T (TTN) ENSP00000340554.6:p.Ser11397Cys
ENST00000359218.10:c.33988A>T (TTN) ENSP00000352154.5:p.Ser11330Cys
ENST00000342175.10:c.34189A>T (TTN) ENSP00000340554.6:p.Ser11397Cys
ENST00000342992.10:c.53104A>T (TTN) ENSP00000343764.6:p.Ser17702Cys
ENST00000359218.9:c.33988A>T (TTN) ENSP00000352154.5:p.Ser11330Cys
ENST00000460472.6:c.33613A>T (TTN) ENSP00000434586.1:p.Ser11205Cys
ENST00000589042.5:c.60808A>T (TTN) MANE Select ENSP00000467141.1:p.Ser20270Cys
ENST00000591111.5:c.55885A>T (TTN) ENSP00000465570.1:p.Ser18629Cys
ENST00000615779.4:c.55885A>T (TTN) ENSP00000483597.1:p.Ser18629Cys
NM_001256850.1:c.55885A>T (TTN) NP_001243779.1:p.Ser18629Cys
NM_001267550.2:c.60808A>T (TTN) MANE Select NP_001254479.2:p.Ser20270Cys
NM_003319.4:c.33613A>T (TTN) NP_003310.4:p.Ser11205Cys
NM_133378.4:c.53104A>T (TTN) NP_596869.4:p.Ser17702Cys
NM_133432.3:c.33988A>T (TTN) NP_597676.3:p.Ser11330Cys
NM_133437.4:c.34189A>T (TTN) NP_597681.4:p.Ser11397Cys
NR_038271.1:n.597-6679T>A (TTN-AS1)
NR_038272.1:n.3189-222T>A (TTN-AS1)
XM_011511729.1:c.59905A>T (TTN) XP_011510031.1:p.Ser19969Cys
XM_011511730.1:c.33799A>T (TTN) XP_011510032.1:p.Ser11267Cys
XM_011511731.1:c.33658A>T (TTN) XP_011510033.1:p.Ser11220Cys
XM_017004819.1:c.59701A>T (TTN) XP_016860308.1:p.Ser19901Cys
XM_017004820.1:c.55099A>T (TTN) XP_016860309.1:p.Ser18367Cys
XM_017004821.1:c.55096A>T (TTN) XP_016860310.1:p.Ser18366Cys
XM_017004822.1:c.52138A>T (TTN) XP_016860311.1:p.Ser17380Cys
XM_017004823.1:c.33754A>T (TTN) XP_016860312.1:p.Ser11252Cys
XM_024453094.1:c.55249A>T (TTN) XP_024308862.1:p.Ser18417Cys
XM_024453095.1:c.55246A>T (TTN) XP_024308863.1:p.Ser18416Cys
XM_024453096.1:c.54679A>T (TTN) XP_024308864.1:p.Ser18227Cys
XM_024453097.1:c.52021A>T (TTN) XP_024308865.1:p.Ser17341Cys
XM_024453098.1:c.51940A>T (TTN) XP_024308866.1:p.Ser17314Cys
XM_024453099.1:c.33703A>T (TTN) XP_024308867.1:p.Ser11235Cys
XM_024453100.1:c.23557A>T (TTN) XP_024308868.1:p.Ser7853Cys