Canonical Allele Identifier: CA349541415

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178601657C>A , CM000664.2:g.178601657C>A	GRCh38
NC_000002.11:g.179466384C>A , CM000664.1:g.179466384C>A	GRCh37
NC_000002.10:g.179174629C>A	NCBI36
NG_011618.3:g.234146G>T , LRG_391:g.234146G>T
NG_051363.1:g.83831C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.55432+1G>T (TTN) MANE Select	NP_001254479.2:n.55432+1G>T
ENST00000589042.5:c.55432+1G>T (TTN) MANE Select	ENSP00000467141.1:n.55432+1G>T
NM_001256850.1:c.50509+1G>T (TTN)	NP_001243779.1:n.50509+1G>T
NM_003319.4:c.28237+1G>T (TTN)	NP_003310.4:n.28237+1G>T
NM_133378.4:c.47728+1G>T (TTN)	NP_596869.4:n.47728+1G>T
NM_133432.3:c.28612+1G>T (TTN)	NP_597676.3:n.28612+1G>T
NM_133437.4:c.28813+1G>T (TTN)	NP_597681.4:n.28813+1G>T
NR_038271.1:n.682+3976C>A (TTN-AS1)
NR_038272.1:n.3917+990C>A (TTN-AS1)
ENST00000342175.10:c.28813+1G>T (TTN)	ENSP00000340554.6:n.28813+1G>T
ENST00000342175.11:c.28813+1G>T (TTN)	ENSP00000340554.6:n.28813+1G>T
ENST00000342992.10:c.47728+1G>T (TTN)	ENSP00000343764.6:n.47728+1G>T
ENST00000342992.11:c.47728+1G>T (TTN)	ENSP00000343764.6:n.47728+1G>T
ENST00000359218.10:c.28612+1G>T (TTN)	ENSP00000352154.5:n.28612+1G>T
ENST00000359218.9:c.28612+1G>T (TTN)	ENSP00000352154.5:n.28612+1G>T
ENST00000460472.6:c.28237+1G>T (TTN)	ENSP00000434586.1:n.28237+1G>T
ENST00000591111.5:c.50509+1G>T (TTN)	ENSP00000465570.1:n.50509+1G>T
ENST00000615779.4:c.50509+1G>T (TTN)	ENSP00000483597.1:n.50509+1G>T
XM_011511729.1:c.54529+1G>T (TTN)	XP_011510031.1:n.54529+1G>T
XM_011511730.1:c.28423+1G>T (TTN)	XP_011510032.1:n.28423+1G>T
XM_011511731.1:c.28282+1G>T (TTN)	XP_011510033.1:n.28282+1G>T
XM_017004819.1:c.54325+1G>T (TTN)	XP_016860308.1:n.54325+1G>T
XM_017004820.1:c.49723+1G>T (TTN)	XP_016860309.1:n.49723+1G>T
XM_017004821.1:c.49720+1G>T (TTN)	XP_016860310.1:n.49720+1G>T
XM_017004822.1:c.46762+1G>T (TTN)	XP_016860311.1:n.46762+1G>T
XM_017004823.1:c.28378+1G>T (TTN)	XP_016860312.1:n.28378+1G>T
XM_024453094.1:c.49873+1G>T (TTN)	XP_024308862.1:n.49873+1G>T
XM_024453095.1:c.49870+1G>T (TTN)	XP_024308863.1:n.49870+1G>T
XM_024453096.1:c.49303+1G>T (TTN)	XP_024308864.1:n.49303+1G>T
XM_024453097.1:c.46645+1G>T (TTN)	XP_024308865.1:n.46645+1G>T
XM_024453098.1:c.46564+1G>T (TTN)	XP_024308866.1:n.46564+1G>T
XM_024453099.1:c.28327+1G>T (TTN)	XP_024308867.1:n.28327+1G>T
XM_024453100.1:c.18181+1G>T (TTN)	XP_024308868.1:n.18181+1G>T