Canonical Allele Identifier: CA349545583

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178602366T>A , CM000664.2:g.178602366T>A	GRCh38
NC_000002.11:g.179467093T>A , CM000664.1:g.179467093T>A	GRCh37
NC_000002.10:g.179175338T>A	NCBI36
NG_011618.3:g.233437A>T , LRG_391:g.233437A>T
NG_051363.1:g.84540T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.55036A>T (TTN) MANE Select	NP_001254479.2:p.Arg18346Ter
ENST00000589042.5:c.55036A>T (TTN) MANE Select	ENSP00000467141.1:p.Arg18346Ter
NM_001256850.1:c.50113A>T (TTN)	NP_001243779.1:p.Arg16705Ter
NM_003319.4:c.27841A>T (TTN)	NP_003310.4:p.Arg9281Ter
NM_133378.4:c.47332A>T (TTN)	NP_596869.4:p.Arg15778Ter
NM_133432.3:c.28216A>T (TTN)	NP_597676.3:p.Arg9406Ter
NM_133437.4:c.28417A>T (TTN)	NP_597681.4:p.Arg9473Ter
NR_038271.1:n.682+4685T>A (TTN-AS1)
NR_038272.1:n.3917+1699T>A (TTN-AS1)
ENST00000342175.10:c.28417A>T (TTN)	ENSP00000340554.6:p.Arg9473Ter
ENST00000342175.11:c.28417A>T (TTN)	ENSP00000340554.6:p.Arg9473Ter
ENST00000342992.10:c.47332A>T (TTN)	ENSP00000343764.6:p.Arg15778Ter
ENST00000342992.11:c.47332A>T (TTN)	ENSP00000343764.6:p.Arg15778Ter
ENST00000359218.10:c.28216A>T (TTN)	ENSP00000352154.5:p.Arg9406Ter
ENST00000359218.9:c.28216A>T (TTN)	ENSP00000352154.5:p.Arg9406Ter
ENST00000460472.6:c.27841A>T (TTN)	ENSP00000434586.1:p.Arg9281Ter
ENST00000591111.5:c.50113A>T (TTN)	ENSP00000465570.1:p.Arg16705Ter
ENST00000615779.4:c.50113A>T (TTN)	ENSP00000483597.1:p.Arg16705Ter
XM_011511729.1:c.54133A>T (TTN)	XP_011510031.1:p.Arg18045Ter
XM_011511730.1:c.28027A>T (TTN)	XP_011510032.1:p.Arg9343Ter
XM_011511731.1:c.27886A>T (TTN)	XP_011510033.1:p.Arg9296Ter
XM_017004819.1:c.53929A>T (TTN)	XP_016860308.1:p.Arg17977Ter
XM_017004820.1:c.49327A>T (TTN)	XP_016860309.1:p.Arg16443Ter
XM_017004821.1:c.49324A>T (TTN)	XP_016860310.1:p.Arg16442Ter
XM_017004822.1:c.46366A>T (TTN)	XP_016860311.1:p.Arg15456Ter
XM_017004823.1:c.27982A>T (TTN)	XP_016860312.1:p.Arg9328Ter
XM_024453094.1:c.49477A>T (TTN)	XP_024308862.1:p.Arg16493Ter
XM_024453095.1:c.49474A>T (TTN)	XP_024308863.1:p.Arg16492Ter
XM_024453096.1:c.48907A>T (TTN)	XP_024308864.1:p.Arg16303Ter
XM_024453097.1:c.46249A>T (TTN)	XP_024308865.1:p.Arg15417Ter
XM_024453098.1:c.46168A>T (TTN)	XP_024308866.1:p.Arg15390Ter
XM_024453099.1:c.27931A>T (TTN)	XP_024308867.1:p.Arg9311Ter
XM_024453100.1:c.17785A>T (TTN)	XP_024308868.1:p.Arg5929Ter