Canonical Allele Identifier: CA349622750

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178619620C>A , CM000664.2:g.178619620C>A	GRCh38
NC_000002.11:g.179484347C>A , CM000664.1:g.179484347C>A	GRCh37
NC_000002.10:g.179192592C>A	NCBI36
NG_011618.3:g.216183G>T , LRG_391:g.216183G>T
NG_051363.1:g.101794C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.46696+1G>T (TTN) MANE Select	NP_001254479.2:n.46696+1G>T
ENST00000589042.5:c.46696+1G>T (TTN) MANE Select	ENSP00000467141.1:n.46696+1G>T
NM_001256850.1:c.41773+1G>T (TTN)	NP_001243779.1:n.41773+1G>T
NM_003319.4:c.19501+1G>T (TTN)	NP_003310.4:n.19501+1G>T
NM_133378.4:c.38992+1G>T (TTN)	NP_596869.4:n.38992+1G>T
NM_133432.3:c.19876+1G>T (TTN)	NP_597676.3:n.19876+1G>T
NM_133437.4:c.20077+1G>T (TTN)	NP_597681.4:n.20077+1G>T
NR_038271.1:n.1605-133C>A (TTN-AS1)
ENST00000342175.10:c.20077+1G>T (TTN)	ENSP00000340554.6:n.20077+1G>T
ENST00000342175.11:c.20077+1G>T (TTN)	ENSP00000340554.6:n.20077+1G>T
ENST00000342992.10:c.38992+1G>T (TTN)	ENSP00000343764.6:n.38992+1G>T
ENST00000342992.11:c.38992+1G>T (TTN)	ENSP00000343764.6:n.38992+1G>T
ENST00000359218.10:c.19876+1G>T (TTN)	ENSP00000352154.5:n.19876+1G>T
ENST00000359218.9:c.19876+1G>T (TTN)	ENSP00000352154.5:n.19876+1G>T
ENST00000460472.6:c.19501+1G>T (TTN)	ENSP00000434586.1:n.19501+1G>T
ENST00000591111.5:c.41773+1G>T (TTN)	ENSP00000465570.1:n.41773+1G>T
ENST00000615779.4:c.41773+1G>T (TTN)	ENSP00000483597.1:n.41773+1G>T
XM_011511729.1:c.45793+1G>T (TTN)	XP_011510031.1:n.45793+1G>T
XM_011511730.1:c.19687+1G>T (TTN)	XP_011510032.1:n.19687+1G>T
XM_011511731.1:c.19546+1G>T (TTN)	XP_011510033.1:n.19546+1G>T
XM_017004819.1:c.45589+1G>T (TTN)	XP_016860308.1:n.45589+1G>T
XM_017004820.1:c.40987+1G>T (TTN)	XP_016860309.1:n.40987+1G>T
XM_017004821.1:c.40984+1G>T (TTN)	XP_016860310.1:n.40984+1G>T
XM_017004822.1:c.38026+1G>T (TTN)	XP_016860311.1:n.38026+1G>T
XM_017004823.1:c.19642+1G>T (TTN)	XP_016860312.1:n.19642+1G>T
XM_024453094.1:c.41137+1G>T (TTN)	XP_024308862.1:n.41137+1G>T
XM_024453095.1:c.41134+1G>T (TTN)	XP_024308863.1:n.41134+1G>T
XM_024453096.1:c.40567+1G>T (TTN)	XP_024308864.1:n.40567+1G>T
XM_024453097.1:c.37909+1G>T (TTN)	XP_024308865.1:n.37909+1G>T
XM_024453098.1:c.37828+1G>T (TTN)	XP_024308866.1:n.37828+1G>T
XM_024453099.1:c.19591+1G>T (TTN)	XP_024308867.1:n.19591+1G>T
XM_024453100.1:c.9445+1G>T (TTN)	XP_024308868.1:n.9445+1G>T