Canonical Allele Identifier: CA349660551

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178575256C>A , CM000664.2:g.178575256C>A	GRCh38
NC_000002.11:g.179439983C>A , CM000664.1:g.179439983C>A	GRCh37
NC_000002.10:g.179148229C>A	NCBI36
NG_011618.3:g.260547G>T , LRG_391:g.260547G>T
NG_051363.1:g.57430C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.70876G>T (TTN) MANE Select	NP_001254479.2:p.Glu23626Ter
ENST00000589042.5:c.70876G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu23626Ter
NM_001256850.1:c.65953G>T (TTN)	NP_001243779.1:p.Glu21985Ter
NM_003319.4:c.43681G>T (TTN)	NP_003310.4:p.Glu14561Ter
NM_133378.4:c.63172G>T (TTN)	NP_596869.4:p.Glu21058Ter
NM_133432.3:c.44056G>T (TTN)	NP_597676.3:p.Glu14686Ter
NM_133437.4:c.44257G>T (TTN)	NP_597681.4:p.Glu14753Ter
NR_038271.1:n.596+3807C>A (TTN-AS1)
NR_038272.1:n.2044-7316C>A (TTN-AS1)
ENST00000342175.10:c.44257G>T (TTN)	ENSP00000340554.6:p.Glu14753Ter
ENST00000342175.11:c.44257G>T (TTN)	ENSP00000340554.6:p.Glu14753Ter
ENST00000342992.10:c.63172G>T (TTN)	ENSP00000343764.6:p.Glu21058Ter
ENST00000342992.11:c.63172G>T (TTN)	ENSP00000343764.6:p.Glu21058Ter
ENST00000359218.10:c.44056G>T (TTN)	ENSP00000352154.5:p.Glu14686Ter
ENST00000359218.9:c.44056G>T (TTN)	ENSP00000352154.5:p.Glu14686Ter
ENST00000460472.6:c.43681G>T (TTN)	ENSP00000434586.1:p.Glu14561Ter
ENST00000591111.5:c.65953G>T (TTN)	ENSP00000465570.1:p.Glu21985Ter
ENST00000615779.4:c.65953G>T (TTN)	ENSP00000483597.1:p.Glu21985Ter
XM_011511729.1:c.69973G>T (TTN)	XP_011510031.1:p.Glu23325Ter
XM_011511730.1:c.43867G>T (TTN)	XP_011510032.1:p.Glu14623Ter
XM_011511731.1:c.43726G>T (TTN)	XP_011510033.1:p.Glu14576Ter
XM_017004819.1:c.69769G>T (TTN)	XP_016860308.1:p.Glu23257Ter
XM_017004820.1:c.65167G>T (TTN)	XP_016860309.1:p.Glu21723Ter
XM_017004821.1:c.65164G>T (TTN)	XP_016860310.1:p.Glu21722Ter
XM_017004822.1:c.62206G>T (TTN)	XP_016860311.1:p.Glu20736Ter
XM_017004823.1:c.43822G>T (TTN)	XP_016860312.1:p.Glu14608Ter
XM_024453094.1:c.65317G>T (TTN)	XP_024308862.1:p.Glu21773Ter
XM_024453095.1:c.65314G>T (TTN)	XP_024308863.1:p.Glu21772Ter
XM_024453096.1:c.64747G>T (TTN)	XP_024308864.1:p.Glu21583Ter
XM_024453097.1:c.62089G>T (TTN)	XP_024308865.1:p.Glu20697Ter
XM_024453098.1:c.62008G>T (TTN)	XP_024308866.1:p.Glu20670Ter
XM_024453099.1:c.43771G>T (TTN)	XP_024308867.1:p.Glu14591Ter
XM_024453100.1:c.33625G>T (TTN)	XP_024308868.1:p.Glu11209Ter