Canonical Allele Identifier: CA349551963

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178604173T>A , CM000664.2:g.178604173T>A	GRCh38
NC_000002.11:g.179468900T>A , CM000664.1:g.179468900T>A	GRCh37
NC_000002.10:g.179177145T>A	NCBI36
NG_011618.3:g.231630A>T , LRG_391:g.231630A>T
NG_051363.1:g.86347T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.54514A>T (TTN) MANE Select	NP_001254479.2:p.Lys18172Ter
ENST00000589042.5:c.54514A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys18172Ter
NM_001256850.1:c.49591A>T (TTN)	NP_001243779.1:p.Lys16531Ter
NM_003319.4:c.27319A>T (TTN)	NP_003310.4:p.Lys9107Ter
NM_133378.4:c.46810A>T (TTN)	NP_596869.4:p.Lys15604Ter
NM_133432.3:c.27694A>T (TTN)	NP_597676.3:p.Lys9232Ter
NM_133437.4:c.27895A>T (TTN)	NP_597681.4:p.Lys9299Ter
NR_038271.1:n.683-3994T>A (TTN-AS1)
NR_038272.1:n.3918-558T>A (TTN-AS1)
ENST00000342175.10:c.27895A>T (TTN)	ENSP00000340554.6:p.Lys9299Ter
ENST00000342175.11:c.27895A>T (TTN)	ENSP00000340554.6:p.Lys9299Ter
ENST00000342992.10:c.46810A>T (TTN)	ENSP00000343764.6:p.Lys15604Ter
ENST00000342992.11:c.46810A>T (TTN)	ENSP00000343764.6:p.Lys15604Ter
ENST00000359218.10:c.27694A>T (TTN)	ENSP00000352154.5:p.Lys9232Ter
ENST00000359218.9:c.27694A>T (TTN)	ENSP00000352154.5:p.Lys9232Ter
ENST00000460472.6:c.27319A>T (TTN)	ENSP00000434586.1:p.Lys9107Ter
ENST00000591111.5:c.49591A>T (TTN)	ENSP00000465570.1:p.Lys16531Ter
ENST00000615779.4:c.49591A>T (TTN)	ENSP00000483597.1:p.Lys16531Ter
XM_011511729.1:c.53611A>T (TTN)	XP_011510031.1:p.Lys17871Ter
XM_011511730.1:c.27505A>T (TTN)	XP_011510032.1:p.Lys9169Ter
XM_011511731.1:c.27364A>T (TTN)	XP_011510033.1:p.Lys9122Ter
XM_017004819.1:c.53407A>T (TTN)	XP_016860308.1:p.Lys17803Ter
XM_017004820.1:c.48805A>T (TTN)	XP_016860309.1:p.Lys16269Ter
XM_017004821.1:c.48802A>T (TTN)	XP_016860310.1:p.Lys16268Ter
XM_017004822.1:c.45844A>T (TTN)	XP_016860311.1:p.Lys15282Ter
XM_017004823.1:c.27460A>T (TTN)	XP_016860312.1:p.Lys9154Ter
XM_024453094.1:c.48955A>T (TTN)	XP_024308862.1:p.Lys16319Ter
XM_024453095.1:c.48952A>T (TTN)	XP_024308863.1:p.Lys16318Ter
XM_024453096.1:c.48385A>T (TTN)	XP_024308864.1:p.Lys16129Ter
XM_024453097.1:c.45727A>T (TTN)	XP_024308865.1:p.Lys15243Ter
XM_024453098.1:c.45646A>T (TTN)	XP_024308866.1:p.Lys15216Ter
XM_024453099.1:c.27409A>T (TTN)	XP_024308867.1:p.Lys9137Ter
XM_024453100.1:c.17263A>T (TTN)	XP_024308868.1:p.Lys5755Ter