Canonical Allele Identifier: CA349560468

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178605471C>A , CM000664.2:g.178605471C>A	GRCh38
NC_000002.11:g.179470198C>A , CM000664.1:g.179470198C>A	GRCh37
NC_000002.10:g.179178443C>A	NCBI36
NG_011618.3:g.230332G>T , LRG_391:g.230332G>T
NG_051363.1:g.87645C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.53824G>T (TTN) MANE Select	NP_001254479.2:p.Glu17942Ter
ENST00000589042.5:c.53824G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu17942Ter
NM_001256850.1:c.48901G>T (TTN)	NP_001243779.1:p.Glu16301Ter
NM_003319.4:c.26629G>T (TTN)	NP_003310.4:p.Glu8877Ter
NM_133378.4:c.46120G>T (TTN)	NP_596869.4:p.Glu15374Ter
NM_133432.3:c.27004G>T (TTN)	NP_597676.3:p.Glu9002Ter
NM_133437.4:c.27205G>T (TTN)	NP_597681.4:p.Glu9069Ter
NR_038271.1:n.683-2696C>A (TTN-AS1)
ENST00000342175.10:c.27205G>T (TTN)	ENSP00000340554.6:p.Glu9069Ter
ENST00000342175.11:c.27205G>T (TTN)	ENSP00000340554.6:p.Glu9069Ter
ENST00000342992.10:c.46120G>T (TTN)	ENSP00000343764.6:p.Glu15374Ter
ENST00000342992.11:c.46120G>T (TTN)	ENSP00000343764.6:p.Glu15374Ter
ENST00000359218.10:c.27004G>T (TTN)	ENSP00000352154.5:p.Glu9002Ter
ENST00000359218.9:c.27004G>T (TTN)	ENSP00000352154.5:p.Glu9002Ter
ENST00000460472.6:c.26629G>T (TTN)	ENSP00000434586.1:p.Glu8877Ter
ENST00000591111.5:c.48901G>T (TTN)	ENSP00000465570.1:p.Glu16301Ter
ENST00000615779.4:c.48901G>T (TTN)	ENSP00000483597.1:p.Glu16301Ter
XM_011511729.1:c.52921G>T (TTN)	XP_011510031.1:p.Glu17641Ter
XM_011511730.1:c.26815G>T (TTN)	XP_011510032.1:p.Glu8939Ter
XM_011511731.1:c.26674G>T (TTN)	XP_011510033.1:p.Glu8892Ter
XM_017004819.1:c.52717G>T (TTN)	XP_016860308.1:p.Glu17573Ter
XM_017004820.1:c.48115G>T (TTN)	XP_016860309.1:p.Glu16039Ter
XM_017004821.1:c.48112G>T (TTN)	XP_016860310.1:p.Glu16038Ter
XM_017004822.1:c.45154G>T (TTN)	XP_016860311.1:p.Glu15052Ter
XM_017004823.1:c.26770G>T (TTN)	XP_016860312.1:p.Glu8924Ter
XM_024453094.1:c.48265G>T (TTN)	XP_024308862.1:p.Glu16089Ter
XM_024453095.1:c.48262G>T (TTN)	XP_024308863.1:p.Glu16088Ter
XM_024453096.1:c.47695G>T (TTN)	XP_024308864.1:p.Glu15899Ter
XM_024453097.1:c.45037G>T (TTN)	XP_024308865.1:p.Glu15013Ter
XM_024453098.1:c.44956G>T (TTN)	XP_024308866.1:p.Glu14986Ter
XM_024453099.1:c.26719G>T (TTN)	XP_024308867.1:p.Glu8907Ter
XM_024453100.1:c.16573G>T (TTN)	XP_024308868.1:p.Glu5525Ter