Canonical Allele Identifier: CA349423528

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579654C>A , CM000664.2:g.178579654C>A	GRCh38
NC_000002.11:g.179444381C>A , CM000664.1:g.179444381C>A	GRCh37
NC_000002.10:g.179152627C>A	NCBI36
NG_011618.3:g.256149G>T , LRG_391:g.256149G>T
NG_051363.1:g.61828C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.67543G>T (TTN) MANE Select	NP_001254479.2:p.Glu22515Ter
ENST00000589042.5:c.67543G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu22515Ter
NM_001256850.1:c.62620G>T (TTN)	NP_001243779.1:p.Glu20874Ter
NM_003319.4:c.40348G>T (TTN)	NP_003310.4:p.Glu13450Ter
NM_133378.4:c.59839G>T (TTN)	NP_596869.4:p.Glu19947Ter
NM_133432.3:c.40723G>T (TTN)	NP_597676.3:p.Glu13575Ter
NM_133437.4:c.40924G>T (TTN)	NP_597681.4:p.Glu13642Ter
NR_038271.1:n.596+8205C>A (TTN-AS1)
NR_038272.1:n.2044-2918C>A (TTN-AS1)
ENST00000342175.10:c.40924G>T (TTN)	ENSP00000340554.6:p.Glu13642Ter
ENST00000342175.11:c.40924G>T (TTN)	ENSP00000340554.6:p.Glu13642Ter
ENST00000342992.10:c.59839G>T (TTN)	ENSP00000343764.6:p.Glu19947Ter
ENST00000342992.11:c.59839G>T (TTN)	ENSP00000343764.6:p.Glu19947Ter
ENST00000359218.10:c.40723G>T (TTN)	ENSP00000352154.5:p.Glu13575Ter
ENST00000359218.9:c.40723G>T (TTN)	ENSP00000352154.5:p.Glu13575Ter
ENST00000460472.6:c.40348G>T (TTN)	ENSP00000434586.1:p.Glu13450Ter
ENST00000591111.5:c.62620G>T (TTN)	ENSP00000465570.1:p.Glu20874Ter
ENST00000615779.4:c.62620G>T (TTN)	ENSP00000483597.1:p.Glu20874Ter
XM_011511729.1:c.66640G>T (TTN)	XP_011510031.1:p.Glu22214Ter
XM_011511730.1:c.40534G>T (TTN)	XP_011510032.1:p.Glu13512Ter
XM_011511731.1:c.40393G>T (TTN)	XP_011510033.1:p.Glu13465Ter
XM_017004819.1:c.66436G>T (TTN)	XP_016860308.1:p.Glu22146Ter
XM_017004820.1:c.61834G>T (TTN)	XP_016860309.1:p.Glu20612Ter
XM_017004821.1:c.61831G>T (TTN)	XP_016860310.1:p.Glu20611Ter
XM_017004822.1:c.58873G>T (TTN)	XP_016860311.1:p.Glu19625Ter
XM_017004823.1:c.40489G>T (TTN)	XP_016860312.1:p.Glu13497Ter
XM_024453094.1:c.61984G>T (TTN)	XP_024308862.1:p.Glu20662Ter
XM_024453095.1:c.61981G>T (TTN)	XP_024308863.1:p.Glu20661Ter
XM_024453096.1:c.61414G>T (TTN)	XP_024308864.1:p.Glu20472Ter
XM_024453097.1:c.58756G>T (TTN)	XP_024308865.1:p.Glu19586Ter
XM_024453098.1:c.58675G>T (TTN)	XP_024308866.1:p.Glu19559Ter
XM_024453099.1:c.40438G>T (TTN)	XP_024308867.1:p.Glu13480Ter
XM_024453100.1:c.30292G>T (TTN)	XP_024308868.1:p.Glu10098Ter