Canonical Allele Identifier: CA349481035

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178547854C>A , CM000664.2:g.178547854C>A	GRCh38
NC_000002.11:g.179412581C>A , CM000664.1:g.179412581C>A	GRCh37
NC_000002.10:g.179120827C>A	NCBI36
NG_011618.3:g.287949G>T , LRG_391:g.287949G>T
NG_051363.1:g.30028C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.93772G>T (TTN) MANE Select	NP_001254479.2:p.Glu31258Ter
ENST00000589042.5:c.93772G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu31258Ter
NM_001256850.1:c.88849G>T (TTN)	NP_001243779.1:p.Glu29617Ter
NM_003319.4:c.66577G>T (TTN)	NP_003310.4:p.Glu22193Ter
NM_133378.4:c.86068G>T (TTN)	NP_596869.4:p.Glu28690Ter
NM_133432.3:c.66952G>T (TTN)	NP_597676.3:p.Glu22318Ter
NM_133437.4:c.67153G>T (TTN)	NP_597681.4:p.Glu22385Ter
NR_038271.1:n.447-23446C>A (TTN-AS1)
NR_038272.1:n.2043+5493C>A (TTN-AS1)
ENST00000342175.10:c.67153G>T (TTN)	ENSP00000340554.6:p.Glu22385Ter
ENST00000342175.11:c.67153G>T (TTN)	ENSP00000340554.6:p.Glu22385Ter
ENST00000342992.10:c.86068G>T (TTN)	ENSP00000343764.6:p.Glu28690Ter
ENST00000342992.11:c.86068G>T (TTN)	ENSP00000343764.6:p.Glu28690Ter
ENST00000359218.10:c.66952G>T (TTN)	ENSP00000352154.5:p.Glu22318Ter
ENST00000359218.9:c.66952G>T (TTN)	ENSP00000352154.5:p.Glu22318Ter
ENST00000460472.6:c.66577G>T (TTN)	ENSP00000434586.1:p.Glu22193Ter
ENST00000591111.5:c.88849G>T (TTN)	ENSP00000465570.1:p.Glu29617Ter
ENST00000615779.4:c.88849G>T (TTN)	ENSP00000483597.1:p.Glu29617Ter
XM_011511729.1:c.92869G>T (TTN)	XP_011510031.1:p.Glu30957Ter
XM_011511730.1:c.66763G>T (TTN)	XP_011510032.1:p.Glu22255Ter
XM_011511731.1:c.66622G>T (TTN)	XP_011510033.1:p.Glu22208Ter
XM_017004819.1:c.92665G>T (TTN)	XP_016860308.1:p.Glu30889Ter
XM_017004820.1:c.88063G>T (TTN)	XP_016860309.1:p.Glu29355Ter
XM_017004821.1:c.88060G>T (TTN)	XP_016860310.1:p.Glu29354Ter
XM_017004822.1:c.85102G>T (TTN)	XP_016860311.1:p.Glu28368Ter
XM_017004823.1:c.66718G>T (TTN)	XP_016860312.1:p.Glu22240Ter
XM_024453094.1:c.88213G>T (TTN)	XP_024308862.1:p.Glu29405Ter
XM_024453095.1:c.88210G>T (TTN)	XP_024308863.1:p.Glu29404Ter
XM_024453096.1:c.87643G>T (TTN)	XP_024308864.1:p.Glu29215Ter
XM_024453097.1:c.84985G>T (TTN)	XP_024308865.1:p.Glu28329Ter
XM_024453098.1:c.84904G>T (TTN)	XP_024308866.1:p.Glu28302Ter
XM_024453099.1:c.66667G>T (TTN)	XP_024308867.1:p.Glu22223Ter
XM_024453100.1:c.56521G>T (TTN)	XP_024308868.1:p.Glu18841Ter