Canonical Allele Identifier: CA349421173

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178578833C>A , CM000664.2:g.178578833C>A	GRCh38
NC_000002.11:g.179443560C>A , CM000664.1:g.179443560C>A	GRCh37
NC_000002.10:g.179151806C>A	NCBI36
NG_011618.3:g.256970G>T , LRG_391:g.256970G>T
NG_051363.1:g.61007C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.68197G>T (TTN) MANE Select	NP_001254479.2:p.Glu22733Ter
ENST00000589042.5:c.68197G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu22733Ter
NM_001256850.1:c.63274G>T (TTN)	NP_001243779.1:p.Glu21092Ter
NM_003319.4:c.41002G>T (TTN)	NP_003310.4:p.Glu13668Ter
NM_133378.4:c.60493G>T (TTN)	NP_596869.4:p.Glu20165Ter
NM_133432.3:c.41377G>T (TTN)	NP_597676.3:p.Glu13793Ter
NM_133437.4:c.41578G>T (TTN)	NP_597681.4:p.Glu13860Ter
NR_038271.1:n.596+7384C>A (TTN-AS1)
NR_038272.1:n.2044-3739C>A (TTN-AS1)
ENST00000342175.10:c.41578G>T (TTN)	ENSP00000340554.6:p.Glu13860Ter
ENST00000342175.11:c.41578G>T (TTN)	ENSP00000340554.6:p.Glu13860Ter
ENST00000342992.10:c.60493G>T (TTN)	ENSP00000343764.6:p.Glu20165Ter
ENST00000342992.11:c.60493G>T (TTN)	ENSP00000343764.6:p.Glu20165Ter
ENST00000359218.10:c.41377G>T (TTN)	ENSP00000352154.5:p.Glu13793Ter
ENST00000359218.9:c.41377G>T (TTN)	ENSP00000352154.5:p.Glu13793Ter
ENST00000460472.6:c.41002G>T (TTN)	ENSP00000434586.1:p.Glu13668Ter
ENST00000591111.5:c.63274G>T (TTN)	ENSP00000465570.1:p.Glu21092Ter
ENST00000615779.4:c.63274G>T (TTN)	ENSP00000483597.1:p.Glu21092Ter
XM_011511729.1:c.67294G>T (TTN)	XP_011510031.1:p.Glu22432Ter
XM_011511730.1:c.41188G>T (TTN)	XP_011510032.1:p.Glu13730Ter
XM_011511731.1:c.41047G>T (TTN)	XP_011510033.1:p.Glu13683Ter
XM_017004819.1:c.67090G>T (TTN)	XP_016860308.1:p.Glu22364Ter
XM_017004820.1:c.62488G>T (TTN)	XP_016860309.1:p.Glu20830Ter
XM_017004821.1:c.62485G>T (TTN)	XP_016860310.1:p.Glu20829Ter
XM_017004822.1:c.59527G>T (TTN)	XP_016860311.1:p.Glu19843Ter
XM_017004823.1:c.41143G>T (TTN)	XP_016860312.1:p.Glu13715Ter
XM_024453094.1:c.62638G>T (TTN)	XP_024308862.1:p.Glu20880Ter
XM_024453095.1:c.62635G>T (TTN)	XP_024308863.1:p.Glu20879Ter
XM_024453096.1:c.62068G>T (TTN)	XP_024308864.1:p.Glu20690Ter
XM_024453097.1:c.59410G>T (TTN)	XP_024308865.1:p.Glu19804Ter
XM_024453098.1:c.59329G>T (TTN)	XP_024308866.1:p.Glu19777Ter
XM_024453099.1:c.41092G>T (TTN)	XP_024308867.1:p.Glu13698Ter
XM_024453100.1:c.30946G>T (TTN)	XP_024308868.1:p.Glu10316Ter