Canonical Allele Identifier: CA1993715
Community Standard Title: NM_001267550.2(TTN):c.53943A>T (p.Gly17981=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178605234T>A , CM000664.2:g.178605234T>A GRCh38
NC_000002.11:g.179469961T>A , CM000664.1:g.179469961T>A GRCh37
NC_000002.10:g.179178206T>A NCBI36
NG_011618.3:g.230569A>T , LRG_391:g.230569A>T
NG_051363.1:g.87408T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.53943A>T (TTN) MANE Select NP_001254479.2:p.Gly17981=
ENST00000589042.5:c.53943A>T (TTN) MANE Select ENSP00000467141.1:p.Gly17981=
NM_001256850.1:c.49020A>T (TTN) NP_001243779.1:p.Gly16340=
NM_003319.4:c.26748A>T (TTN) NP_003310.4:p.Gly8916=
NM_133378.4:c.46239A>T (TTN) NP_596869.4:p.Gly15413=
NM_133432.3:c.27123A>T (TTN) NP_597676.3:p.Gly9041=
NM_133437.4:c.27324A>T (TTN) NP_597681.4:p.Gly9108=
NR_038271.1:n.683-2933T>A (TTN-AS1)
NR_038272.1:n.4421T>A (TTN-AS1)
ENST00000342175.10:c.27324A>T (TTN) ENSP00000340554.6:p.Gly9108=
ENST00000342175.11:c.27324A>T (TTN) ENSP00000340554.6:p.Gly9108=
ENST00000342992.10:c.46239A>T (TTN) ENSP00000343764.6:p.Gly15413=
ENST00000342992.11:c.46239A>T (TTN) ENSP00000343764.6:p.Gly15413=
ENST00000359218.10:c.27123A>T (TTN) ENSP00000352154.5:p.Gly9041=
ENST00000359218.9:c.27123A>T (TTN) ENSP00000352154.5:p.Gly9041=
ENST00000460472.6:c.26748A>T (TTN) ENSP00000434586.1:p.Gly8916=
ENST00000591111.5:c.49020A>T (TTN) ENSP00000465570.1:p.Gly16340=
ENST00000615779.4:c.49020A>T (TTN) ENSP00000483597.1:p.Gly16340=
XM_011511729.1:c.53040A>T (TTN) XP_011510031.1:p.Gly17680=
XM_011511730.1:c.26934A>T (TTN) XP_011510032.1:p.Gly8978=
XM_011511731.1:c.26793A>T (TTN) XP_011510033.1:p.Gly8931=
XM_017004819.1:c.52836A>T (TTN) XP_016860308.1:p.Gly17612=
XM_017004820.1:c.48234A>T (TTN) XP_016860309.1:p.Gly16078=
XM_017004821.1:c.48231A>T (TTN) XP_016860310.1:p.Gly16077=
XM_017004822.1:c.45273A>T (TTN) XP_016860311.1:p.Gly15091=
XM_017004823.1:c.26889A>T (TTN) XP_016860312.1:p.Gly8963=
XM_024453094.1:c.48384A>T (TTN) XP_024308862.1:p.Gly16128=
XM_024453095.1:c.48381A>T (TTN) XP_024308863.1:p.Gly16127=
XM_024453096.1:c.47814A>T (TTN) XP_024308864.1:p.Gly15938=
XM_024453097.1:c.45156A>T (TTN) XP_024308865.1:p.Gly15052=
XM_024453098.1:c.45075A>T (TTN) XP_024308866.1:p.Gly15025=
XM_024453099.1:c.26838A>T (TTN) XP_024308867.1:p.Gly8946=
XM_024453100.1:c.16692A>T (TTN) XP_024308868.1:p.Gly5564=