Canonical Allele Identifier: CA349521123

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178597704C>T , CM000664.2:g.178597704C>T	GRCh38
NC_000002.11:g.179462431C>T , CM000664.1:g.179462431C>T	GRCh37
NC_000002.10:g.179170676C>T	NCBI36
NG_011618.3:g.238099G>A , LRG_391:g.238099G>A
NG_051363.1:g.79878C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.57378G>A (TTN) MANE Select	NP_001254479.2:p.Trp19126Ter
ENST00000589042.5:c.57378G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp19126Ter
NM_001256850.1:c.52455G>A (TTN)	NP_001243779.1:p.Trp17485Ter
NM_003319.4:c.30183G>A (TTN)	NP_003310.4:p.Trp10061Ter
NM_133378.4:c.49674G>A (TTN)	NP_596869.4:p.Trp16558Ter
NM_133432.3:c.30558G>A (TTN)	NP_597676.3:p.Trp10186Ter
NM_133437.4:c.30759G>A (TTN)	NP_597681.4:p.Trp10253Ter
NR_038271.1:n.682+23C>T (TTN-AS1)
NR_038272.1:n.3450+23C>T (TTN-AS1)
ENST00000342175.10:c.30759G>A (TTN)	ENSP00000340554.6:p.Trp10253Ter
ENST00000342175.11:c.30759G>A (TTN)	ENSP00000340554.6:p.Trp10253Ter
ENST00000342992.10:c.49674G>A (TTN)	ENSP00000343764.6:p.Trp16558Ter
ENST00000342992.11:c.49674G>A (TTN)	ENSP00000343764.6:p.Trp16558Ter
ENST00000359218.10:c.30558G>A (TTN)	ENSP00000352154.5:p.Trp10186Ter
ENST00000359218.9:c.30558G>A (TTN)	ENSP00000352154.5:p.Trp10186Ter
ENST00000460472.6:c.30183G>A (TTN)	ENSP00000434586.1:p.Trp10061Ter
ENST00000591111.5:c.52455G>A (TTN)	ENSP00000465570.1:p.Trp17485Ter
ENST00000615779.4:c.52455G>A (TTN)	ENSP00000483597.1:p.Trp17485Ter
XM_011511729.1:c.56475G>A (TTN)	XP_011510031.1:p.Trp18825Ter
XM_011511730.1:c.30369G>A (TTN)	XP_011510032.1:p.Trp10123Ter
XM_011511731.1:c.30228G>A (TTN)	XP_011510033.1:p.Trp10076Ter
XM_017004819.1:c.56271G>A (TTN)	XP_016860308.1:p.Trp18757Ter
XM_017004820.1:c.51669G>A (TTN)	XP_016860309.1:p.Trp17223Ter
XM_017004821.1:c.51666G>A (TTN)	XP_016860310.1:p.Trp17222Ter
XM_017004822.1:c.48708G>A (TTN)	XP_016860311.1:p.Trp16236Ter
XM_017004823.1:c.30324G>A (TTN)	XP_016860312.1:p.Trp10108Ter
XM_024453094.1:c.51819G>A (TTN)	XP_024308862.1:p.Trp17273Ter
XM_024453095.1:c.51816G>A (TTN)	XP_024308863.1:p.Trp17272Ter
XM_024453096.1:c.51249G>A (TTN)	XP_024308864.1:p.Trp17083Ter
XM_024453097.1:c.48591G>A (TTN)	XP_024308865.1:p.Trp16197Ter
XM_024453098.1:c.48510G>A (TTN)	XP_024308866.1:p.Trp16170Ter
XM_024453099.1:c.30273G>A (TTN)	XP_024308867.1:p.Trp10091Ter
XM_024453100.1:c.20127G>A (TTN)	XP_024308868.1:p.Trp6709Ter