Canonical Allele Identifier: CA349446396

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178587178C>A , CM000664.2:g.178587178C>A	GRCh38
NC_000002.11:g.179451905C>A , CM000664.1:g.179451905C>A	GRCh37
NC_000002.10:g.179160151C>A	NCBI36
NG_011618.3:g.248625G>T , LRG_391:g.248625G>T
NG_051363.1:g.69352C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.64033G>T (TTN) MANE Select	NP_001254479.2:p.Glu21345Ter
ENST00000589042.5:c.64033G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu21345Ter
NM_001256850.1:c.59110G>T (TTN)	NP_001243779.1:p.Glu19704Ter
NM_003319.4:c.36838G>T (TTN)	NP_003310.4:p.Glu12280Ter
NM_133378.4:c.56329G>T (TTN)	NP_596869.4:p.Glu18777Ter
NM_133432.3:c.37213G>T (TTN)	NP_597676.3:p.Glu12405Ter
NM_133437.4:c.37414G>T (TTN)	NP_597681.4:p.Glu12472Ter
NR_038271.1:n.597-10418C>A (TTN-AS1)
NR_038272.1:n.3188+2185C>A (TTN-AS1)
ENST00000342175.10:c.37414G>T (TTN)	ENSP00000340554.6:p.Glu12472Ter
ENST00000342175.11:c.37414G>T (TTN)	ENSP00000340554.6:p.Glu12472Ter
ENST00000342992.10:c.56329G>T (TTN)	ENSP00000343764.6:p.Glu18777Ter
ENST00000342992.11:c.56329G>T (TTN)	ENSP00000343764.6:p.Glu18777Ter
ENST00000359218.10:c.37213G>T (TTN)	ENSP00000352154.5:p.Glu12405Ter
ENST00000359218.9:c.37213G>T (TTN)	ENSP00000352154.5:p.Glu12405Ter
ENST00000460472.6:c.36838G>T (TTN)	ENSP00000434586.1:p.Glu12280Ter
ENST00000591111.5:c.59110G>T (TTN)	ENSP00000465570.1:p.Glu19704Ter
ENST00000615779.4:c.59110G>T (TTN)	ENSP00000483597.1:p.Glu19704Ter
XM_011511729.1:c.63130G>T (TTN)	XP_011510031.1:p.Glu21044Ter
XM_011511730.1:c.37024G>T (TTN)	XP_011510032.1:p.Glu12342Ter
XM_011511731.1:c.36883G>T (TTN)	XP_011510033.1:p.Glu12295Ter
XM_017004819.1:c.62926G>T (TTN)	XP_016860308.1:p.Glu20976Ter
XM_017004820.1:c.58324G>T (TTN)	XP_016860309.1:p.Glu19442Ter
XM_017004821.1:c.58321G>T (TTN)	XP_016860310.1:p.Glu19441Ter
XM_017004822.1:c.55363G>T (TTN)	XP_016860311.1:p.Glu18455Ter
XM_017004823.1:c.36979G>T (TTN)	XP_016860312.1:p.Glu12327Ter
XM_024453094.1:c.58474G>T (TTN)	XP_024308862.1:p.Glu19492Ter
XM_024453095.1:c.58471G>T (TTN)	XP_024308863.1:p.Glu19491Ter
XM_024453096.1:c.57904G>T (TTN)	XP_024308864.1:p.Glu19302Ter
XM_024453097.1:c.55246G>T (TTN)	XP_024308865.1:p.Glu18416Ter
XM_024453098.1:c.55165G>T (TTN)	XP_024308866.1:p.Glu18389Ter
XM_024453099.1:c.36928G>T (TTN)	XP_024308867.1:p.Glu12310Ter
XM_024453100.1:c.26782G>T (TTN)	XP_024308868.1:p.Glu8928Ter