Canonical Allele Identifier: CA349507002

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552163C>T , CM000664.2:g.178552163C>T	GRCh38
NC_000002.11:g.179416890C>T , CM000664.1:g.179416890C>T	GRCh37
NC_000002.10:g.179125136C>T	NCBI36
NG_011618.3:g.283640G>A , LRG_391:g.283640G>A
NG_051363.1:g.34337C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.90737G>A (TTN) MANE Select	NP_001254479.2:p.Trp30246Ter
ENST00000589042.5:c.90737G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp30246Ter
NM_001256850.1:c.85814G>A (TTN)	NP_001243779.1:p.Trp28605Ter
NM_003319.4:c.63542G>A (TTN)	NP_003310.4:p.Trp21181Ter
NM_133378.4:c.83033G>A (TTN)	NP_596869.4:p.Trp27678Ter
NM_133432.3:c.63917G>A (TTN)	NP_597676.3:p.Trp21306Ter
NM_133437.4:c.64118G>A (TTN)	NP_597681.4:p.Trp21373Ter
NR_038271.1:n.447-19137C>T (TTN-AS1)
NR_038272.1:n.2043+9802C>T (TTN-AS1)
ENST00000342175.10:c.64118G>A (TTN)	ENSP00000340554.6:p.Trp21373Ter
ENST00000342175.11:c.64118G>A (TTN)	ENSP00000340554.6:p.Trp21373Ter
ENST00000342992.10:c.83033G>A (TTN)	ENSP00000343764.6:p.Trp27678Ter
ENST00000342992.11:c.83033G>A (TTN)	ENSP00000343764.6:p.Trp27678Ter
ENST00000359218.10:c.63917G>A (TTN)	ENSP00000352154.5:p.Trp21306Ter
ENST00000359218.9:c.63917G>A (TTN)	ENSP00000352154.5:p.Trp21306Ter
ENST00000460472.6:c.63542G>A (TTN)	ENSP00000434586.1:p.Trp21181Ter
ENST00000591111.5:c.85814G>A (TTN)	ENSP00000465570.1:p.Trp28605Ter
ENST00000615779.4:c.85814G>A (TTN)	ENSP00000483597.1:p.Trp28605Ter
XM_011511729.1:c.89834G>A (TTN)	XP_011510031.1:p.Trp29945Ter
XM_011511730.1:c.63728G>A (TTN)	XP_011510032.1:p.Trp21243Ter
XM_011511731.1:c.63587G>A (TTN)	XP_011510033.1:p.Trp21196Ter
XM_017004819.1:c.89630G>A (TTN)	XP_016860308.1:p.Trp29877Ter
XM_017004820.1:c.85028G>A (TTN)	XP_016860309.1:p.Trp28343Ter
XM_017004821.1:c.85025G>A (TTN)	XP_016860310.1:p.Trp28342Ter
XM_017004822.1:c.82067G>A (TTN)	XP_016860311.1:p.Trp27356Ter
XM_017004823.1:c.63683G>A (TTN)	XP_016860312.1:p.Trp21228Ter
XM_024453094.1:c.85178G>A (TTN)	XP_024308862.1:p.Trp28393Ter
XM_024453095.1:c.85175G>A (TTN)	XP_024308863.1:p.Trp28392Ter
XM_024453096.1:c.84608G>A (TTN)	XP_024308864.1:p.Trp28203Ter
XM_024453097.1:c.81950G>A (TTN)	XP_024308865.1:p.Trp27317Ter
XM_024453098.1:c.81869G>A (TTN)	XP_024308866.1:p.Trp27290Ter
XM_024453099.1:c.63632G>A (TTN)	XP_024308867.1:p.Trp21211Ter
XM_024453100.1:c.53486G>A (TTN)	XP_024308868.1:p.Trp17829Ter