Canonical Allele Identifier: CA349609600

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178615668C>A , CM000664.2:g.178615668C>A	GRCh38
NC_000002.11:g.179480395C>A , CM000664.1:g.179480395C>A	GRCh37
NC_000002.10:g.179188640C>A	NCBI36
NG_011618.3:g.220135G>T , LRG_391:g.220135G>T
NG_051363.1:g.97842C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.48433G>T (TTN) MANE Select	NP_001254479.2:p.Glu16145Ter
ENST00000589042.5:c.48433G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu16145Ter
NM_001256850.1:c.43510G>T (TTN)	NP_001243779.1:p.Glu14504Ter
NM_003319.4:c.21238G>T (TTN)	NP_003310.4:p.Glu7080Ter
NM_133378.4:c.40729G>T (TTN)	NP_596869.4:p.Glu13577Ter
NM_133432.3:c.21613G>T (TTN)	NP_597676.3:p.Glu7205Ter
NM_133437.4:c.21814G>T (TTN)	NP_597681.4:p.Glu7272Ter
NR_038271.1:n.1604+294C>A (TTN-AS1)
ENST00000342175.10:c.21814G>T (TTN)	ENSP00000340554.6:p.Glu7272Ter
ENST00000342175.11:c.21814G>T (TTN)	ENSP00000340554.6:p.Glu7272Ter
ENST00000342992.10:c.40729G>T (TTN)	ENSP00000343764.6:p.Glu13577Ter
ENST00000342992.11:c.40729G>T (TTN)	ENSP00000343764.6:p.Glu13577Ter
ENST00000359218.10:c.21613G>T (TTN)	ENSP00000352154.5:p.Glu7205Ter
ENST00000359218.9:c.21613G>T (TTN)	ENSP00000352154.5:p.Glu7205Ter
ENST00000460472.6:c.21238G>T (TTN)	ENSP00000434586.1:p.Glu7080Ter
ENST00000591111.5:c.43510G>T (TTN)	ENSP00000465570.1:p.Glu14504Ter
ENST00000615779.4:c.43510G>T (TTN)	ENSP00000483597.1:p.Glu14504Ter
XM_011511729.1:c.47530G>T (TTN)	XP_011510031.1:p.Glu15844Ter
XM_011511730.1:c.21424G>T (TTN)	XP_011510032.1:p.Glu7142Ter
XM_011511731.1:c.21283G>T (TTN)	XP_011510033.1:p.Glu7095Ter
XM_017004819.1:c.47326G>T (TTN)	XP_016860308.1:p.Glu15776Ter
XM_017004820.1:c.42724G>T (TTN)	XP_016860309.1:p.Glu14242Ter
XM_017004821.1:c.42721G>T (TTN)	XP_016860310.1:p.Glu14241Ter
XM_017004822.1:c.39763G>T (TTN)	XP_016860311.1:p.Glu13255Ter
XM_017004823.1:c.21379G>T (TTN)	XP_016860312.1:p.Glu7127Ter
XM_024453094.1:c.42874G>T (TTN)	XP_024308862.1:p.Glu14292Ter
XM_024453095.1:c.42871G>T (TTN)	XP_024308863.1:p.Glu14291Ter
XM_024453096.1:c.42304G>T (TTN)	XP_024308864.1:p.Glu14102Ter
XM_024453097.1:c.39646G>T (TTN)	XP_024308865.1:p.Glu13216Ter
XM_024453098.1:c.39565G>T (TTN)	XP_024308866.1:p.Glu13189Ter
XM_024453099.1:c.21328G>T (TTN)	XP_024308867.1:p.Glu7110Ter
XM_024453100.1:c.11182G>T (TTN)	XP_024308868.1:p.Glu3728Ter