Canonical Allele Identifier: CA430268925
Community Standard Title: NM_001267550.2(TTN):c.56118C>T (p.Ala18706=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178599783G>A , CM000664.2:g.178599783G>A GRCh38
NC_000002.11:g.179464510G>A , CM000664.1:g.179464510G>A GRCh37
NC_000002.10:g.179172755G>A NCBI36
NG_011618.3:g.236020C>T , LRG_391:g.236020C>T
NG_051363.1:g.81957G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.56118C>T (TTN) MANE Select NP_001254479.2:p.Ala18706=
ENST00000589042.5:c.56118C>T (TTN) MANE Select ENSP00000467141.1:p.Ala18706=
NM_001256850.1:c.51195C>T (TTN) NP_001243779.1:p.Ala17065=
NM_003319.4:c.28923C>T (TTN) NP_003310.4:p.Ala9641=
NM_133378.4:c.48414C>T (TTN) NP_596869.4:p.Ala16138=
NM_133432.3:c.29298C>T (TTN) NP_597676.3:p.Ala9766=
NM_133437.4:c.29499C>T (TTN) NP_597681.4:p.Ala9833=
NR_038271.1:n.682+2102G>A (TTN-AS1)
NR_038272.1:n.3725+33G>A (TTN-AS1)
ENST00000342175.10:c.29499C>T (TTN) ENSP00000340554.6:p.Ala9833=
ENST00000342175.11:c.29499C>T (TTN) ENSP00000340554.6:p.Ala9833=
ENST00000342992.10:c.48414C>T (TTN) ENSP00000343764.6:p.Ala16138=
ENST00000342992.11:c.48414C>T (TTN) ENSP00000343764.6:p.Ala16138=
ENST00000359218.10:c.29298C>T (TTN) ENSP00000352154.5:p.Ala9766=
ENST00000359218.9:c.29298C>T (TTN) ENSP00000352154.5:p.Ala9766=
ENST00000460472.6:c.28923C>T (TTN) ENSP00000434586.1:p.Ala9641=
ENST00000591111.5:c.51195C>T (TTN) ENSP00000465570.1:p.Ala17065=
ENST00000615779.4:c.51195C>T (TTN) ENSP00000483597.1:p.Ala17065=
XM_011511729.1:c.55215C>T (TTN) XP_011510031.1:p.Ala18405=
XM_011511730.1:c.29109C>T (TTN) XP_011510032.1:p.Ala9703=
XM_011511731.1:c.28968C>T (TTN) XP_011510033.1:p.Ala9656=
XM_017004819.1:c.55011C>T (TTN) XP_016860308.1:p.Ala18337=
XM_017004820.1:c.50409C>T (TTN) XP_016860309.1:p.Ala16803=
XM_017004821.1:c.50406C>T (TTN) XP_016860310.1:p.Ala16802=
XM_017004822.1:c.47448C>T (TTN) XP_016860311.1:p.Ala15816=
XM_017004823.1:c.29064C>T (TTN) XP_016860312.1:p.Ala9688=
XM_024453094.1:c.50559C>T (TTN) XP_024308862.1:p.Ala16853=
XM_024453095.1:c.50556C>T (TTN) XP_024308863.1:p.Ala16852=
XM_024453096.1:c.49989C>T (TTN) XP_024308864.1:p.Ala16663=
XM_024453097.1:c.47331C>T (TTN) XP_024308865.1:p.Ala15777=
XM_024453098.1:c.47250C>T (TTN) XP_024308866.1:p.Ala15750=
XM_024453099.1:c.29013C>T (TTN) XP_024308867.1:p.Ala9671=
XM_024453100.1:c.18867C>T (TTN) XP_024308868.1:p.Ala6289=