Canonical Allele Identifier: CA349579233

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178609391C>A , CM000664.2:g.178609391C>A	GRCh38
NC_000002.11:g.179474118C>A , CM000664.1:g.179474118C>A	GRCh37
NC_000002.10:g.179182363C>A	NCBI36
NG_011618.3:g.226412G>T , LRG_391:g.226412G>T
NG_051363.1:g.91565C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.51919G>T (TTN) MANE Select	NP_001254479.2:p.Glu17307Ter
ENST00000589042.5:c.51919G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu17307Ter
NM_001256850.1:c.46996G>T (TTN)	NP_001243779.1:p.Glu15666Ter
NM_003319.4:c.24724G>T (TTN)	NP_003310.4:p.Glu8242Ter
NM_133378.4:c.44215G>T (TTN)	NP_596869.4:p.Glu14739Ter
NM_133432.3:c.25099G>T (TTN)	NP_597676.3:p.Glu8367Ter
NM_133437.4:c.25300G>T (TTN)	NP_597681.4:p.Glu8434Ter
NR_038271.1:n.782+1125C>A (TTN-AS1)
ENST00000342175.10:c.25300G>T (TTN)	ENSP00000340554.6:p.Glu8434Ter
ENST00000342175.11:c.25300G>T (TTN)	ENSP00000340554.6:p.Glu8434Ter
ENST00000342992.10:c.44215G>T (TTN)	ENSP00000343764.6:p.Glu14739Ter
ENST00000342992.11:c.44215G>T (TTN)	ENSP00000343764.6:p.Glu14739Ter
ENST00000359218.10:c.25099G>T (TTN)	ENSP00000352154.5:p.Glu8367Ter
ENST00000359218.9:c.25099G>T (TTN)	ENSP00000352154.5:p.Glu8367Ter
ENST00000460472.6:c.24724G>T (TTN)	ENSP00000434586.1:p.Glu8242Ter
ENST00000591111.5:c.46996G>T (TTN)	ENSP00000465570.1:p.Glu15666Ter
ENST00000615779.4:c.46996G>T (TTN)	ENSP00000483597.1:p.Glu15666Ter
XM_011511729.1:c.51016G>T (TTN)	XP_011510031.1:p.Glu17006Ter
XM_011511730.1:c.24910G>T (TTN)	XP_011510032.1:p.Glu8304Ter
XM_011511731.1:c.24769G>T (TTN)	XP_011510033.1:p.Glu8257Ter
XM_017004819.1:c.50812G>T (TTN)	XP_016860308.1:p.Glu16938Ter
XM_017004820.1:c.46210G>T (TTN)	XP_016860309.1:p.Glu15404Ter
XM_017004821.1:c.46207G>T (TTN)	XP_016860310.1:p.Glu15403Ter
XM_017004822.1:c.43249G>T (TTN)	XP_016860311.1:p.Glu14417Ter
XM_017004823.1:c.24865G>T (TTN)	XP_016860312.1:p.Glu8289Ter
XM_024453094.1:c.46360G>T (TTN)	XP_024308862.1:p.Glu15454Ter
XM_024453095.1:c.46357G>T (TTN)	XP_024308863.1:p.Glu15453Ter
XM_024453096.1:c.45790G>T (TTN)	XP_024308864.1:p.Glu15264Ter
XM_024453097.1:c.43132G>T (TTN)	XP_024308865.1:p.Glu14378Ter
XM_024453098.1:c.43051G>T (TTN)	XP_024308866.1:p.Glu14351Ter
XM_024453099.1:c.24814G>T (TTN)	XP_024308867.1:p.Glu8272Ter
XM_024453100.1:c.14668G>T (TTN)	XP_024308868.1:p.Glu4890Ter