Canonical Allele Identifier: CA1994149

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178609756G>A , CM000664.2:g.178609756G>A	GRCh38
NC_000002.11:g.179474483G>A , CM000664.1:g.179474483G>A	GRCh37
NC_000002.10:g.179182728G>A	NCBI36
NG_011618.3:g.226047C>T , LRG_391:g.226047C>T
NG_051363.1:g.91930G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.51667C>T (TTN) MANE Select	NP_001254479.2:p.Arg17223Ter
ENST00000589042.5:c.51667C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg17223Ter
NM_001256850.1:c.46744C>T (TTN)	NP_001243779.1:p.Arg15582Ter
NM_003319.4:c.24472C>T (TTN)	NP_003310.4:p.Arg8158Ter
NM_133378.4:c.43963C>T (TTN)	NP_596869.4:p.Arg14655Ter
NM_133432.3:c.24847C>T (TTN)	NP_597676.3:p.Arg8283Ter
NM_133437.4:c.25048C>T (TTN)	NP_597681.4:p.Arg8350Ter
NR_038271.1:n.782+1490G>A (TTN-AS1)
ENST00000342175.10:c.25048C>T (TTN)	ENSP00000340554.6:p.Arg8350Ter
ENST00000342175.11:c.25048C>T (TTN)	ENSP00000340554.6:p.Arg8350Ter
ENST00000342992.10:c.43963C>T (TTN)	ENSP00000343764.6:p.Arg14655Ter
ENST00000342992.11:c.43963C>T (TTN)	ENSP00000343764.6:p.Arg14655Ter
ENST00000359218.10:c.24847C>T (TTN)	ENSP00000352154.5:p.Arg8283Ter
ENST00000359218.9:c.24847C>T (TTN)	ENSP00000352154.5:p.Arg8283Ter
ENST00000460472.6:c.24472C>T (TTN)	ENSP00000434586.1:p.Arg8158Ter
ENST00000591111.5:c.46744C>T (TTN)	ENSP00000465570.1:p.Arg15582Ter
ENST00000615779.4:c.46744C>T (TTN)	ENSP00000483597.1:p.Arg15582Ter
XM_011511729.1:c.50764C>T (TTN)	XP_011510031.1:p.Arg16922Ter
XM_011511730.1:c.24658C>T (TTN)	XP_011510032.1:p.Arg8220Ter
XM_011511731.1:c.24517C>T (TTN)	XP_011510033.1:p.Arg8173Ter
XM_017004819.1:c.50560C>T (TTN)	XP_016860308.1:p.Arg16854Ter
XM_017004820.1:c.45958C>T (TTN)	XP_016860309.1:p.Arg15320Ter
XM_017004821.1:c.45955C>T (TTN)	XP_016860310.1:p.Arg15319Ter
XM_017004822.1:c.42997C>T (TTN)	XP_016860311.1:p.Arg14333Ter
XM_017004823.1:c.24613C>T (TTN)	XP_016860312.1:p.Arg8205Ter
XM_024453094.1:c.46108C>T (TTN)	XP_024308862.1:p.Arg15370Ter
XM_024453095.1:c.46105C>T (TTN)	XP_024308863.1:p.Arg15369Ter
XM_024453096.1:c.45538C>T (TTN)	XP_024308864.1:p.Arg15180Ter
XM_024453097.1:c.42880C>T (TTN)	XP_024308865.1:p.Arg14294Ter
XM_024453098.1:c.42799C>T (TTN)	XP_024308866.1:p.Arg14267Ter
XM_024453099.1:c.24562C>T (TTN)	XP_024308867.1:p.Arg8188Ter
XM_024453100.1:c.14416C>T (TTN)	XP_024308868.1:p.Arg4806Ter