Canonical Allele Identifier: CA349512733

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552673G>T , CM000664.2:g.178552673G>T GRCh38
NC_000002.11:g.179417400G>T , CM000664.1:g.179417400G>T GRCh37
NC_000002.10:g.179125646G>T NCBI36
NG_011618.3:g.283130C>A , LRG_391:g.283130C>A
NG_051363.1:g.34847G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82523C>A (TTN) ENSP00000343764.6:p.Thr27508Lys
ENST00000342175.11:c.63608C>A (TTN) ENSP00000340554.6:p.Thr21203Lys
ENST00000359218.10:c.63407C>A (TTN) ENSP00000352154.5:p.Thr21136Lys
ENST00000342175.10:c.63608C>A (TTN) ENSP00000340554.6:p.Thr21203Lys
ENST00000342992.10:c.82523C>A (TTN) ENSP00000343764.6:p.Thr27508Lys
ENST00000359218.9:c.63407C>A (TTN) ENSP00000352154.5:p.Thr21136Lys
ENST00000460472.6:c.63032C>A (TTN) ENSP00000434586.1:p.Thr21011Lys
ENST00000589042.5:c.90227C>A (TTN) MANE Select ENSP00000467141.1:p.Thr30076Lys
ENST00000591111.5:c.85304C>A (TTN) ENSP00000465570.1:p.Thr28435Lys
ENST00000615779.4:c.85304C>A (TTN) ENSP00000483597.1:p.Thr28435Lys
NM_001256850.1:c.85304C>A (TTN) NP_001243779.1:p.Thr28435Lys
NM_001267550.2:c.90227C>A (TTN) MANE Select NP_001254479.2:p.Thr30076Lys
NM_003319.4:c.63032C>A (TTN) NP_003310.4:p.Thr21011Lys
NM_133378.4:c.82523C>A (TTN) NP_596869.4:p.Thr27508Lys
NM_133432.3:c.63407C>A (TTN) NP_597676.3:p.Thr21136Lys
NM_133437.4:c.63608C>A (TTN) NP_597681.4:p.Thr21203Lys
NR_038271.1:n.447-18627G>T (TTN-AS1)
NR_038272.1:n.2043+10312G>T (TTN-AS1)
XM_011511729.1:c.89324C>A (TTN) XP_011510031.1:p.Thr29775Lys
XM_011511730.1:c.63218C>A (TTN) XP_011510032.1:p.Thr21073Lys
XM_011511731.1:c.63077C>A (TTN) XP_011510033.1:p.Thr21026Lys
XM_017004819.1:c.89120C>A (TTN) XP_016860308.1:p.Thr29707Lys
XM_017004820.1:c.84518C>A (TTN) XP_016860309.1:p.Thr28173Lys
XM_017004821.1:c.84515C>A (TTN) XP_016860310.1:p.Thr28172Lys
XM_017004822.1:c.81557C>A (TTN) XP_016860311.1:p.Thr27186Lys
XM_017004823.1:c.63173C>A (TTN) XP_016860312.1:p.Thr21058Lys
XM_024453094.1:c.84668C>A (TTN) XP_024308862.1:p.Thr28223Lys
XM_024453095.1:c.84665C>A (TTN) XP_024308863.1:p.Thr28222Lys
XM_024453096.1:c.84098C>A (TTN) XP_024308864.1:p.Thr28033Lys
XM_024453097.1:c.81440C>A (TTN) XP_024308865.1:p.Thr27147Lys
XM_024453098.1:c.81359C>A (TTN) XP_024308866.1:p.Thr27120Lys
XM_024453099.1:c.63122C>A (TTN) XP_024308867.1:p.Thr21041Lys
XM_024453100.1:c.52976C>A (TTN) XP_024308868.1:p.Thr17659Lys